Kazuma Ohshima, Satoru Torii, Shigeomi Shimizu: Presence of Gut Microbiota Worsens D-Galactosamine and Lipopolysaccharide-Induced Hepatic Injury in Mice. Genes Cells. 2025.01; 30 (1): e13183. ( PubMed , DOI )

Kohjin Suzuki, Naoki Watanabe, Satoru Torii, Satoko Arakawa, Kiyosumi Ochi, Shun Tsuchiya, Kazuhiro Yamada, Yoko Kawamura, Sadao Ota, Norio Komatsu, Shigeomi Shimizu, Miki Ando, Tomoiku Takaku: BCR::ABL1-induced mitochondrial morphological alterations as a potential clinical biomarker in chronic myeloid leukemia. Cancer Science. 2024.12; ( PubMed , DOI )

Yanagi, T; Kikuchi, H; Takeuchi, K; Susa, K; Mori, T; Chiga, M; Yamamoto, K; Furukawa, A; Kanazawa, T; Kato, Y; Takahashi, N; Suzuki, T; Mori, Y; Carter, BC; Mori, M; Nakano, Y; Fujiki, T; Hara, Y; Suzuki, S; Ando, F; Mandai, S; Honda, S; Torii, S; Shimizu, S; Tanaka, H; Fujii, Y; Rai, T; Uchida, S; Sohara, E: ULK1-regulated AMP sensing by AMPK and its application for the treatment of chronic kidney disease KIDNEY INTERNATIONAL. 2024.11; 106 (5): 887-906. ( PubMed , DOI )

Dan Tomomasa, Kay Tanita, Yuriko Hiruma, Akihiro Hoshino, Ko Kudo, Shohei Azumi, Mitsutaka Shiota, Masayoshi Yamaoka, Katsuhide Eguchi, Masataka Ishimura, Yuka Tanaka, Keiji Iwatsuki, Keisuke Okuno, Asahito Hama, Ken-Ichi Sakamoto, Takashi Taga, Kimitoshi Goto, Haruka Ota, Akihiro Ichiki, Kaori Kanda, Takako Miyamura, Saori Endo, Hidenori Ohnishi, Yoji Sasahara, Ayako Arai, Benjamin Fornier, Ken-Ichi Imadome, Tomohiro Morio, Sylvain Latour, Hirokazu Kanegane: Highly sensitive detection of Epstein-Barr virus-infected cells by EBER flow FISH. Int J Hematol. 2024.08; 120 (2): 241-251. ( PubMed , DOI )

Hasegawa T, Nakashima M, Torii S, Honda S and Shimizu S: Photo-protective role of alternative autophagy in human keratinocytes Autophagy Reports. 2024.08;

Toru Kanamori, Tomohiro Udagawa, Takayuki Fujii, Hiroyoshi Matsukura, Yuka Iwaya, Motoshi Sonoda, Keisuke Sugimoto, Masahiro Takeguchi, Atsunori Yoshino, I-Feng Wang, Daw-Yang Hwang, Harry W Schroeder, Masaki Shimizu, Hans D Ochs, Tomohiro Morio, Hirokazu Kanegane: Discordant Phenotypes of Nephritis in Patients with X-linked Agammaglobulinemia. J Clin Immunol. 2024.07; 44 (7): 164. ( PubMed , DOI )

Takahiro Tomoda, Akira Nishimura, Takahiro Kamiya, Kumi Inoue, Harutaka Katano, Shun Iida, Akihiro Hoshino, Takeshi Isoda, Kohsuke Imai, Michiko Kajiwara, Masatoshi Takagi, Hirokazu Kanegane, Nozomu Hanaoka, Tomohiro Morio: Immune reconstitution and cidofovir administration rescue human adenovirus hepatitis after allogeneic hematopoietic cell transplantation. Transpl Immunol. 2024.07; 102093. ( PubMed , DOI )

Shuya Kaneko, Asami Shimbo, Hitoshi Irabu, Maho Hatano, Kei Takasawa, Takahiro Kamiya, Keiji Akamine, Takayuki Tanaka, Toshinori Minato, Makoto Ono, Koji Yokoyama, Atsuko Arisaka, Takahiro Yasumi, Kazuyuki Ueno, Shuhei Fujita, Yumi Tanaka, Daisuke Hayashi, Hiroki Nishikawa, Yuji Fujita, Yuki Yuza, Masaaki Mori, Tomohiro Morio, Masaki Shimizu: Pathogenic role and diagnostic utility of interferon-α in histiocytic necrotizing lymphadenitis. Clin Immunol. 2024.07; 266 110324. ( PubMed , DOI )

Susumu Yamazaki, Masaki Shimizu, Ayane Yakabe, Eisuke Inage, Keisuke Jimbo, Mitsuyoshi Suzuki, Futaba Miyaoka, Shuya Kaneko, Hitoshi Irabu, Asami Shimbo, Yoshiyuki Ohtomo, Masaaki Mori, Tomohiro Morio, Toshiaki Shimizu: Successful treatment with tofacitinib for anti-melanoma differentiation-associated gene 5 antibody-positive juvenile dermatomyositis: case reports and review of the literature. Immunol Med. 2024.06; 47 (2): 110-117. ( PubMed , DOI )

Dan Tomomasa, Beom Hee Lee, Yuki Hirata, Yuzaburo Inoue, Hidetaka Majima, Yusuke Imanaka, Takaki Asano, Takashi Katakami, Jina Lee, Atsushi Hijikata, Wittawin Worakitchanon, Xi Yang, Xiaowen Wang, Akira Watanabe, Katsuhiko Kamei, Yasufumi Kageyama, Go Hun Seo, Akihiro Fujimoto, Jean-Laurent Casanova, Anne Puel, Tomohiro Morio, Satoshi Okada, Hirokazu Kanegane: Inherited CARD9 Deficiency Due to a Founder Effect in East Asia. J Clin Immunol. 2024.05; 44 (5): 121. ( PubMed , DOI )

Ishii T, Nawa N, Hosokawa S, Morio T, Fujiwara T: Exploring viral infections' role in Kawasaki disease onset: A study during the COVID-19 pandemic. Journal of medical virology. 2024.05; 96 (5): e29660. ( PubMed , DOI )

Yuri Hayashida, Maho Hatano, Kazuyuki Ito, Manabu Sugie, Junko Kunieda, Masaki Shimizu, Tomohiro Morio, Chikako Morioka: Case Report: A neonatal case of cryopyrin-associated periodic syndrome with severe funisitis and neonatal asphyxia. Front Pediatr. 2024.05; 12 1397412. ( PubMed , DOI )

Yuichi Nagamatsu, Takeshi Isoda, Motoki Inaji, Jun Oyama, Daiki Niizato, Dan Tomomasa, Noriko Mitsuiki, Motoi Yamashita, Takahiro Kamiya, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Masatoshi Takagi: Intracranial residual lesions following early intensification in a patient with T-cell acute lymphoblastic leukemia: a case report. BMC Pediatr. 2024.05; 24 (1): 304. ( PubMed , DOI )

Naotaka Tamai, Masayoshi Shinjoh, Hiroyuki Oikawa, Riku Hamada, Tomohiro Morio, Goro Koinuma, Takao Takahashi: serotype 24B in an immunocompetent child. Radiol Case Rep. 2024.04; 19 (4): 1642-1645. ( PubMed , DOI )

Huan-Ting Lin, Masatoshi Takagi, Kenji Kubara, Kazuto Yamazaki, Fumiko Michikawa, Takashi Okumura, Takuya Naruto, Tomohiro Morio, Koji Miyazaki, Hideki Taniguchi, Makoto Otsu: Monoallelic KRAS (G13C) mutation triggers dysregulated expansion in induced pluripotent stem cell-derived hematopoietic progenitor cells. Stem Cell Res Ther. 2024.04; 15 (1): 106. ( PubMed , DOI )

Marie Materna, Ottavia M Delmonte, Marita Bosticardo, Mana Momenilandi, Peyton E Conrey, Bénédicte Charmeteau-De Muylder, Clotilde Bravetti, Rebecca Bellworthy, Axel Cederholm, Frederik Staels, Christian A Ganoza, Samuel Darko, Samir Sayed, Corentin Le Floc'h, Masato Ogishi, Darawan Rinchai, Andrea Guenoun, Alexandre Bolze, Taushif Khan, Adrian Gervais, Renate Krüger, Mirjam Völler, Boaz Palterer, Mahnaz Sadeghi-Shabestari, Anne Langlois de Septenville, Chaim A Schramm, Sanjana Shah, John J Tello-Cajiao, Francesca Pala, Kayla Amini, Jose S Campos, Noemia Santana Lima, Daniel Eriksson, Romain Lévy, Yoann Seeleuthner, Soma Jyonouchi, Manar Ata, Fatima Al Ali, Caroline Deswarte, Anaïs Pereira, Jérôme Mégret, Tom Le Voyer, Paul Bastard, Laureline Berteloot, Michaël Dussiot, Natasha Vladikine, Paula P Cardenas, Emmanuelle Jouanguy, Mashael Alqahtani, Amal Hasan, Thangavel Alphonse Thanaraj, Jérémie Rosain, Fahd Al Qureshah, Vito Sabato, Marie Alexandra Alyanakian, Marianne Leruez-Ville, Flore Rozenberg, Elie Haddad, Jose R Regueiro, Maria L Toribio, Judith R Kelsen, Mansoor Salehi, Shahram Nasiri, Mehdi Torabizadeh, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Nasimeh Vatandoost, Hossein Moravej, Seyed Mohammad Akrami, Mohsen Mazloomrezaei, Aurélie Cobat, Isabelle Meyts, Etsushi Toyofuku, Madoka Nishimura, Kunihiko Moriya, Tomoyuki Mizukami, Kohsuke Imai, Laurent Abel, Bernard Malissen, Fahd Al-Mulla, Fowzan Sami Alkuraya, Nima Parvaneh, Horst von Bernuth, Christian Beetz, Frédéric Davi, Daniel C Douek, Rémi Cheynier, David Langlais, Nils Landegren, Nico Marr, Tomohiro Morio, Mohammad Shahrooei, Rik Schrijvers, Sarah E Henrickson, Hervé Luche, Luigi D Notarangelo, Jean-Laurent Casanova, Vivien Béziat: The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants. Science. 2024.03; 383 (6686): eadh4059. ( PubMed , DOI )

Tatsuya Hasegawa, Saori Noguchi, Masaya Nakashima, Masashi Miyai, Makiko Goto, Yuko Matsumoto, Satoru Torii, Shinya Honda, Shigeomi Shimizu: Alternative autophagy dampens UVB-induced NLRP3 inflammasome activation in human keratinocytes. J Biol Chem. 2024.03; 107173. ( PubMed , DOI )

Öner Özdemir, Ümmügülsüm Dikici, Murat Hakkı Yarar, Motoi Yamashita, Tomohiro Morio: A Rare AIOLOS N160S Variant Causing IEI in Human. J Clin Immunol. 2024.02; 44 (2): 57. ( PubMed , DOI )

Di Wang, Shinya Honda, Min Kyoung Shin, Kei Watase, Hidehiro Mizusawa, Kinya Ishikawa, Shigeomi Shimizu: Subcellular localization and ER-mediated cytotoxic function of α1A and α1ACT in spinocerebellar ataxia type 6. Biochem Biophys Res Commun. 2024.02; 695 149481. ( PubMed , DOI )

Eriko Adachi, Ryuichi Nakagawa, Atsumi Tsuji-Hosokawa, Maki Gau, Shizuka Kirino, Analia Yogi, Hisae Nakatani, Kei Takasawa, Tomomi Yamaguchi, Tomoki Kosho, Masanori Murakami, Toshihiro Tajima, Tomonobu Hasegawa, Tetsuya Yamada, Tomohiro Morio, Osamu Ohara, Kenichi Kashimada: A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency. J Clin Endocrinol Metab. 2024.02; 109 (3): 750-760. ( PubMed , DOI )

Paul Bastard, Adrian Gervais, Maki Taniguchi, Liisa Saare, Karita Särekannu, Tom Le Voyer, Quentin Philippot, Jérémie Rosain, Lucy Bizien, Takaki Asano, Marina Garcia-Prat, Alba Parra-Martínez, Mélanie Migaud, Miyuki Tsumura, Francesca Conti, Alexandre Belot, Jacques G Rivière, Tomohiro Morio, Junko Tanaka, Etienne Javouhey, Filomeen Haerynck, Sotirija Duvlis, Tayfun Ozcelik, Sevgi Keles, Yacine Tandjaoui-Lambiotte, Simon Escoda, Maya Husain, Qiang Pan-Hammarström, Lennart Hammarström, Gloria Ahlijah, Anthony Abi Haidar, Camille Soudee, Vincent Arseguel, Hassan Abolhassani, Sabina Sahanic, Ivan Tancevski, Yoko Nukui, Seiichi Hayakawa, George P Chrousos, Athanasios Michos, Elizabeth-Barbara Tatsi, Filippos Filippatos, Agusti Rodriguez-Palmero, Jesus Troya, Imran Tipu, Isabelle Meyts, Lucie Roussel, Sisse Rye Ostrowski, Laire Schidlowski, Carolina Prando, Antonio Condino-Neto, Nathalie Cheikh, Ahmed A Bousfiha, Jalila El Bakkouri, , , , Pärt Peterson, Aurora Pujol, Romain Lévy, Pierre Quartier, Donald C Vinh, Bertrand Boisson, Vivien Béziat, Shen-Ying Zhang, Alessandro Borghesi, Andrea Pession, Evangelos Andreakos, Nico Marr, Alexios-Fotios A Mentis, Trine H Mogensen, Carlos Rodríguez-Gallego, Pere Soler-Palacin, Roger Colobran, Vallo Tillmann, Bénédicte Neven, Sophie Trouillet-Assant, Petter Brodin, Laurent Abel, Emmanuelle Jouanguy, Qian Zhang, Federico Martinón-Torres, Antonio Salas, Alberto Gómez-Carballa, Luis I Gonzalez-Granado, Kai Kisand, Satoshi Okada, Anne Puel, Aurélie Cobat, Jean-Laurent Casanova: Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children. J Exp Med. 2024.02; 221 (2): e20231353. ( PubMed , DOI )

Tomoyo Yoshida, Tadashi Yokoi, Taku Tanaka, Emiko Matsuzaka, Yuki Saida, Sachiko Nishina, Shuji Takada, Shigeomi Shimizu, Noriyuki Azuma: Modeling of Retina and Optic Nerve Ischemia-Reperfusion Injury through Hypoxia-Reoxygenation in Human Induced Pluripotent Stem Cell-Derived Retinal Ganglion Cells. Cells. 2024.01; 13 (2): ( PubMed , DOI )

Yuki Hitomi, Kazuko Ueno, Yoshihiro Aiba, Nao Nishida, Yosuke Kawai, Minae Kawashima, Seik-Soon Khor, Sanami Takada, Chisato Iwabuchi, Masao Nagasaki, Katsushi Tokunaga, Minoru Nakamura: rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseases HUMAN GENETICS. 2024.01; 143 (1): 19-33. ( PubMed , DOI )

Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia 2024.01; ( DOI )

Risa Konishi, Yuki Ichimura, Ryota Tanaka, Hanako Miyahara, Mari Okune, Masahide Miyamoto, Monami Hara, Atsushi Iwabuchi, Hidetoshi Takada, Yasuo Nakagishi, Mao Mizuta, Shuya Kaneko, Masaki Shimizu, Tomohiro Morio, Ichizo Nishino, Toshifumi Nomura, Naoko Okiyama: Possible correlation between serum interleukin-8 levels and the activity of myositis in anti-NXP2 antibody-positive dermatomyositis. Immunol Med. 2024.01; 1-6. ( PubMed , DOI )

Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M Allende, Rebeca Alonso-Arias, Andrés Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T Bryceson, Ingrid G Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E Covill, Ottavia M Delmonte, Loubna El Zein, Carlos Flores, Peter K Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M Alsohime, Hagit Baris-Feldman, Manish J Butte, Stefan N Constantinescu, Megan A Cooper, Clifton L Dalgard, Jacques Fellay, James R Heath, Yu-Lung Lau, Richard P Lifton, Tom Maniatis, Trine H Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, , , , , , , , , Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D Notarangelo, Stephanie Boisson-Dupuis, Helen C Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobat: Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19. Genome Med. 2024.01; 16 (1): 6. ( PubMed , DOI )

Kazuaki Matsumoto, Kazuki Okuyama, Tom Sidwell, Motoi Yamashita, Takaho Endo, Naoko Satoh-Takayama, Hiroshi Ohno, Tomohiro Morio, Ellen V Rothenberg, Ichiro Taniuchi: A Bcl11b N797K variant isolated from an immunodeficient patient inhibits early thymocyte development in mice. Front Immunol. 2024; 15 1363704. ( PubMed , DOI )

Kei Takasawa, Ryosei Iemura, Ryuta Orimoto, Haruki Yamano, Shizuka Kirino, Eriko Adachi, Yoko Saito, Kurara Yamamoto, Nozomi Matsuda, Shigeru Takishima, Kumi Shuno, Hanako Tajima, Manabu Sugie, Yuki Mizuno, Akito Sutani, Kentaro Okamoto, Michiya Masue, Tomohiro Morio, Kenichi Kashimada: Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experience. Clin Pediatr Endocrinol. 2024; 33 (3): 187-194. ( PubMed , DOI )

Shichen Chang, Satoru Torii, Jun Inamo, Kinya Ishikawa, Yuta Kochi, Shigeomi Shimizu: Uncovering the Localization and Function of a Novel Read-Through Transcript ' TOMM40-APOE' Cells. 2023.12; 13 (1): ( PubMed , DOI )

Kenichi Asano, Kenta Kikuchi, Miki Takehara, Manami Ogasawara, Yuki Yoshioka, Kie Ohnishi, Ayaka Iwata, Shigeomi Shimizu, Masato Tanaka: Identification of small compounds that inhibit multiple myeloma proliferation by targeting c-Maf transcriptional activity. Biochem Biophys Res Commun. 2023.12; 684 149135. ( PubMed , DOI )

Hajime Tajima Sakurai, Satoko Arakawa, Hirofumi Yamaguchi, Satoru Torii, Shinya Honda, Shigeomi Shimizu: An Overview of Golgi Membrane-Associated Degradation (GOMED) and Its Detection Methods. Cells. 2023.12; 12 (24): ( PubMed , DOI )

Shuya Kaneko, Yusuke Noguchi, Maho Hatano, Asami Shimbo, Hitoshi Irabu, Kenji Furuno, Naomi Iwata, Junya Fujimura, Keiji Akamine, Anna Kobayashi, Takuya Endo, Tomohiro Morio, Masaki Shimizu: Clinical usefulness of T-Cell Receptor Vβ Repertoire analysis for differentiating multisystem inflammatory syndrome in Japanese children from Toxic Shock Syndrome and Kawasaki Disease. Pediatr Infect Dis J. 2023.12; ( PubMed , DOI )

Kunihiko Moriya, Kanako Mitsui-Sekinaka, Yujin Sekinaka, Akifumi Endo, Hirokazu Kanegane, Tomohiro Morio, Kohsuke Imai, Shigeaki Nonoyama: Clinical practice guideline for activated phosphatidyl inositol 3-kinase-delta syndrome in Japan. Immunol Med. 2023.12; 46 (4): 153-157. ( PubMed , DOI )

Takuro Nishikawa, Takahiro Tomoda, Aki Nakamura, Jun Nagahama, Akihito Tanaka, Shuji Kanmura, Mari Kirishima, Akihide Tanimoto, Tsubasa Okano, Takahiro Kamiya, Kentaro Okamoto, Susumu Kirimura, Tomohiro Morio, Yasuhiro Okamoto, Hirokazu Kanegane: Case Report: The leopard sign as a potential characteristic of chronic granulomatous disease-associated colitis, unrelated to colitis severity. Front Immunol. 2023.12; 14 1208590. ( PubMed , DOI )

Yamashita M, Tomoda T, Mizuo A, Isoda T, Egawa M, Yoshida M, Toki T, Kudo K, Terui K, Ito E, Morio T, Takagi M: Transient erythroblastopenia due to a GATA1 variant in an infant female. Pediatric blood & cancer. 2023.12; e30834. ( PubMed , DOI )

Akira Nishimura, Kazuaki Yokoyama, Takuya Naruto, Chika Yamagishi, Toshihiko Imamura, Hiroto Nakazono, Shunsuke Kimura, Mieko Ito, Maiko Sagisaka, Yukie Tanaka, Jinhua Piao, Yui Namikawa, Masakatsu Yanagimachi, Takeshi Isoda, Akinori Kanai, Hirotaka Matsui, Tomoya Isobe, Aiko Sato-Otsubo, Naoko Higuchi, Akiko Takada, Haruna Okuno, Shoji Saito, Shuhei Karakawa, Shogo Kobayashi, Daisuke Hasegawa, Hiroyuki Fujisaki, Daiichiro Hasegawa, Kazutoshi Koike, Takashi Koike, Shinya Rai, Katsutsugu Umeda, Hideki Sano, Yujin Sekinaka, Atsushi Ogawa, Akitoshi Kinoshita, Norio Shiba, Mizuka Miki, Fumihiko Kimura, Hideki Nakayama, Yozo Nakazawa, Takashi Taga, Tomohiko Taki, Souichi Adachi, Atsushi Manabe, Katsuyoshi Koh, Yasushi Ishida, Junko Takita, Fumihiko Ishikawa, Hiroaki Goto, Tomohiro Morio, Shuki Mizutani, Arinobu Tojo, Masatoshi Takagi: Myeloid/natural killer (NK) cell precursor acute leukemia as a distinct leukemia type. Sci Adv. 2023.12; 9 (50): eadj4407. ( PubMed , DOI )

Akira Nishimura, Ramya Uppuluri, Revathi Raj, Venkateswaran Vellaichamy Swaminathan, Yifei Cheng, Rolla F Abu-Arja, Bin Fu, Alexandra Laberko, Michael H Albert, Fabian Hauck, Giorgia Bucciol, Venetia Bigley, Suzanne Elcombe, Gaurav Kharya, Cornelis Jan H Pronk, Claudia Wehr, Bénédicte Neven, Klaus Warnatz, Isabelle Meyts, Tomohiro Morio, Andrew R Gennery, Hirokazu Kanegane: An International Survey of Allogeneic Hematopoietic Cell Transplantation for X-Linked Agammaglobulinemia. J Clin Immunol. 2023.11; 43 (8): 1827-1839. ( PubMed , DOI )

Shuya Kaneko, Fumiaki Sakura, Kay Tanita, Asami Shimbo, Ryusuke Nambu, Masashi Yoshida, Shuichiro Umetsu, Ayano Inui, Chizuru Okada, Miyuki Tsumura, Mamiko Yamada, Hisato Suzuki, Kenjiro Kosaki, Osamu Ohara, Masaki Shimizu, Tomohiro Morio, Satoshi Okada, Hirokazu Kanegane: Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function. Immunotherapy Advances. 2023.11;

Masatoshi Takagi, Akihiro Hoshino, Kristine Bousset, Jule Röddecke, Hanna Luisa Martin, Iulia Folcut, Dan Tomomasa, Xi Yang, Junya Kobayashi, Naoki Sakata, Kenichi Yoshida, Satoru Miyano, Seishi Ogawa, Seiji Kojima, Tomohiro Morio, Thilo Dörk, Hirokazu Kanegane: Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants. J Clin Immunol. 2023.11; 43 (8): 2136-2145. ( PubMed , DOI )

Tomoko Mizuno, Tadashi Kanouchi, Yumie Tamura, Ko Hirata, Runa Emoto, Tomonori Suzuki, Kenichi Kashimada, Tomohiro Morio: Changes in electrophysiological findings of spinal muscular atrophy type I after the administration of nusinersen and onasemnogene abeparvovec: two case reports. BMC Neurol. 2023.10; 23 (1): 392. ( PubMed , DOI )

Susumu Yamazaki, Asami Shimbo, Yuko Akutsu, Hiroshi Takase, Tomohiro Morio, Masaaki Mori: Correction: Importance of pediatric rheumatologists and transitional care for juvenile idiopathic arthritis-associated uveitis: a retrospective series of 9 cases. Pediatr Rheumatol Online J. 2023.10; 21 (1): 132. ( PubMed , DOI )

Sally Mehanna, Satoko Arakawa, Mai Imasaka, Wenting Chen, Yuto Nakanishi, Hiroshi Nishiura, Shigeomi Shimizu, Masaki Ohmuraya: Beclin1 is essential for the pancreas development. Dev Biol. 2023.09; ( PubMed , DOI )

Taku Ishii, Nobutoshi Nawa, Shozaburo Doi, Tomohiro Morio, Takeo Fujiwara: Association between the initiation of insurance coverage for fetal echocardiography and mortality from congenital heart disease in infants: An interrupted time series analysis. Paediatr Perinat Epidemiol. 2023.09; 37 (7): 607-617. ( PubMed , DOI )

Jae-Seung Moon, Chun-Chang Ho, Jong-Hyun Park, Kyungsoo Park, Bo-Young Shin, Su-Hyeon Lee, Ines Sequeira, Chin Hee Mun, Jin-Su Shin, Jung-Ho Kim, Beom Seok Kim, Jin-Wook Noh, Eui-Seon Lee, Ji Young Son, Yuna Kim, Yeji Lee, Hee Cho, SunHyeon So, Jiyoon Park, Eunsu Choi, Jong-Won Oh, Sang-Won Lee, Tomohiro Morio, Fiona M Watt, Rho Hyun Seong, Sang-Kyou Lee: Lrig1-expression confers suppressive function to CD4+ cells and is essential for averting autoimmunity via the Smad2/3/Foxp3 axis. Nat Commun. 2023.09; 14 (1): 5382. ( PubMed , DOI )

Toshihiro Yamaguchi, Masao Iwagami, Chieko Ishiguro, Souichirou Kitao, Masashi Tetsuhashi, Masato Izumi, Shingo Yoshihara, Hiroshi Kobatake, Yoshifumi Banzai, Natsumi Kinoshita, Toyotaka Iguchi, Akira Oka, Tomohiro Morio, Kiyohito Nakai, Shuichiro Hayashi, Ryo Takagi: Updated report of COVID-19 vaccine safety monitoring in Japan: booster doses for Omicron variants and vaccinations for infants and young children. Lancet Reg Health West Pac. 2023.09; 38 100885. ( PubMed , DOI )

Torii S, Arakawa S, Sato S, Ishikawa KI, Taniguchi D, Sakurai HT, Honda S, Hiraoka Y, Ono M, Akamatsu W, Hattori N, Shimizu S: Involvement of casein kinase 1 epsilon/delta (Csnk1e/d) in the pathogenesis of familial Parkinson's disease caused by CHCHD2. EMBO molecular medicine. 2023.08; 15 (9): e17451. ( PubMed , DOI )

Ryota Kawahara, Tomoko Usami, Satoko Arakawa, Hiroki Kamo, Takehiro Suzuki, Ryosuke Komatsu, Hiroyuki Hara, Yuki Niwa, Erina Shimizu, Naoshi Dohmae, Shigeomi Shimizu, Siro Simizu: Biogenesis of fibrils requires C-mannosylation of PMEL. FEBS J. 2023.08; ( PubMed , DOI )

Yogi A, Iemura R, Nakatani H, Takasawa K, Gau M, Yamauchi T, Yoshida M, Moriyama K, Ishii T, Hosokawa S, Yamada M, Suzuki H, Kosaki K, Kashimada K, Morio T: BMP2 is a potential causative gene for isolated dextrocardia situs solitus. European journal of medical genetics. 2023.08; 66 (9): 104820. ( PubMed , DOI )

Nishiyama Y, Mizuki K, Hoshino A, Hirabayashi S, Magara T, Ashiarai M, Miyamoto S, Ono R, Takahashi S, Hosoya Y, Niizato D, Yoshihara H, Nishimura A, Mitsuiki N, Kamiya T, Takasawa K, Kajiwara M, Kanegane H, Morio T, Manabe A, Isoda T, Hasegawa D, Takagi M: Hematopoietic cell transplantation for hematological malignancies in Bloom syndrome. Pediatric blood & cancer. 2023.08; 70 (11): e30655. ( PubMed , DOI )

Human phenotype caused by biallelic KDM4B frameshift variant. 2023.08; ( PubMed , DOI )

Masafumi Onodera, Toru Uchiyama, Tadashi Ariga, Masafumi Yamada, Takako Miyamura, Hironori Arizono, Tomohiro Morio: Safety and efficacy of elapegademase in patients with adenosine deaminase deficiency: A multicenter, open-label, single-arm, phase 3, and postmarketing clinical study. Immun Inflamm Dis. 2023.07; 11 (7): e917. ( PubMed , DOI )

Hajime Tajima Sakurai, Hidefumi Iwashita, Satoko Arakawa, Alifu Yikelamu, Mizuki Kusaba, Satoshi Kofuji, Hiroshi Nishina, Munetaka Ishiyama, Yuichiro Ueno, Shigeomi Shimizu: Development of small fluorescent probes for the analysis of autophagy kinetics. iScience. 2023.07; 26 (7): 107218. ( PubMed , DOI )

Motoi Yamashita, Masae Kuroha, Yuko Kinowawki, Nao Kashiwagi, Kotaro Watanabe, Mika Nagase, Daiki Niizato, Noriko Mitsuiki, Takeshi Isoda, Takahiro Kamiya, Atsuko Arisaka, Motoki Inaji, Kenichi Ohashi, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Masatoshi Takagi: A SAMD5-SASH1 fusion in solitary infantile myofibromatosis. Pediatr Blood Cancer. 2023.06; 70 (6): e30278. ( PubMed , DOI )

Shuya Kaneko, Masaki Shimizu, Asami Shimbo, Hitoshi Irabu, Koji Yokoyama, Kenji Furuno, Takayuki Tanaka, Kazuyuki Ueno, Shuhei Fujita, Naomi Iwata, Junya Fujimura, Keiji Akamine, Mao Mizuta, Yasuo Nakagishi, Toshinori Minato, Kenichi Watanabe, Anna Kobayashi, Takuya Endo, Katsuhiko Tabata, Masaaki Mori, Tomohiro Morio: Clinical significance of serum cytokine profiles for differentiating between Kawasaki disease and its mimickers. Cytokine. 2023.06; 169 156280. ( PubMed , DOI )

Mariko Mouri, Toru Kanamori, Eriko Tanaka, Kanako Hiratoko, Mariko Okubo, Michio Inoue, Tomohiro Morio, Masaki Shimizu, Ichizo Nishino, Naoko Okiyama, Masaaki Mori: Hepatic veno-occlusive disease accompanied by thrombotic microangiopathy developed during treatment of juvenile dermatomyositis and macrophage activation syndrome: A case report. Mod Rheumatol Case Rep. 2023.06; 7 (2): 404-409. ( PubMed , DOI )

Yumiko Watanabe-Yasuoka, Ayako Gotou, Shigeomi Shimizu, Toshihiro Sashihara: OLL2712 Induces Autophagy via MYD88 and Strengthens Tight Junction Integrity to Promote the Barrier Function in Intestinal Epithelial Cells. Nutrients. 2023.06; 15 (12): ( PubMed , DOI )

Takahiro Kido, Sho Hosaka, Kazuo Imagawa, Hiroko Fukushima, Tomohiro Morio, Shigeaki Nonoyama, Hidetoshi Takada: Initial manifestations in Patients with Inborn Errors of Immunity Based on Onset Age: a Study from a Nationwide Survey in Japan. J Clin Immunol. 2023.05; 43 (4): 747-755. ( PubMed , DOI )

Yohei Yamaguchi, Susumu Hosokawa, Go Haraguchi, Yusuke Kajikawa, Makito Sakurai, Taku Ishii, Noboru Ando, Tomohiro Morio, Shozaburo Doi, Tetsushi Furukawa: The Anti-Inflammatory Effects and Clinical Potential of Dexmedetomidine in Pulmonary Arterial Hypertension. J Pharmacol Exp Ther. 2023.05; 385 (2): 88-94. ( PubMed , DOI )

Satoshi Miyamoto, Kevin Y Urayama, Yuki Arakawa, Katsuyoshi Koh, Yuki Yuza, Daisuke Hasegawa, Yuichi Taneyama, Yasushi Noguchi, Masakatsu Yanagimachi, Takeshi Inukai, Setsuo Ota, Hiroyuki Takahashi, Dai Keino, Daisuke Toyama, Junko Takita, Daisuke Tomizawa, Tomohiro Morio, Kazutoshi Koike, Koichi Moriwaki, Yuya Sato, Junya Fujimura, Daisuke Morita, Yujin Sekinaka, Kozue Nakamura, Kazuo Sakashita, Hiroaki Goto, Atsushi Manabe, Masatoshi Takagi: Rare TCF3 variants associated with pediatric B cell acute lymphoblastic leukemia. Pediatr Hematol Oncol. 2023.05; 41 (1): 1-7. ( PubMed , DOI )

Ana García-García, Rebeca Pérez de Diego, Carlos Flores, Darawan Rinchai, Jordi Solé-Violán, Àngela Deyà-Martínez, Blanca García-Solis, José M Lorenzo-Salazar, Elisa Hernández-Brito, Anna-Lisa Lanz, Leen Moens, Giorgia Bucciol, Mohamed Almuqamam, Joseph B Domachowske, Elena Colino, Juan Luis Santos-Perez, Francisco M Marco, Claudio Pignata, Aziz Bousfiha, Stuart E Turvey, Stefanie Bauer, Filomeen Haerynck, Javier Gonzalo Ocejo-Vinyals, Francisco Lendinez, Seraina Prader, Nora Naumann-Bartsch, Jana Pachlopnik Schmid, Catherine M Biggs, Kyla Hildebrand, Alexandra Dreesman, Miguel Ángel Cárdenes, Fatima Ailal, Ibtihal Benhsaien, Giuliana Giardino, Agueda Molina-Fuentes, Claudia Fortuny, Swetha Madhavarapu, Daniel H Conway, Carolina Prando, Laire Schidlowski, María Teresa Martínez de Saavedra Álvarez, Rafael Alfaro, Felipe Rodríguez de Castro, , , Isabelle Meyts, Fabian Hauck, Anne Puel, Paul Bastard, Bertrand Boisson, Emmanuelle Jouanguy, Laurent Abel, Aurélie Cobat, Qian Zhang, Jean-Laurent Casanova, Laia Alsina, Carlos Rodríguez-Gallego: Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia. J Exp Med. 2023.05; 220 (5): e20220170. ( PubMed , DOI )

Motoi Yamashita, Tomohiro Morio: Germline STAT6 gain-of-function variants cause severe allergy. J Allergy Clin Immunol. 2023.05; 151 (5): 1252-1254. ( PubMed , DOI )

Haruka Hiroki, Yuko Ishii, Jinhua Piao, Yui Namikawa, Mitsuko Masutani, Hiroaki Honda, Koshi Akahane, Takeshi Inukai, Tomohiro Morio, Masatoshi Takagi: Targeting Poly(ADP)ribose polymerase in BCR/ABL1-positive cells. Sci Rep. 2023.05; 13 (1): 7588. ( PubMed , DOI )

Haruka Hiroki, Koshi Akahane, Takeshi Inukai, Tomohiro Morio, Masatoshi Takagi: Synergistic effect of combined PI3 kinase inhibitor and PARP inhibitor treatment on BCR/ABL1-positive acute lymphoblastic leukemia cells. Int J Hematol. 2023.05; 117 (5): 748-758. ( PubMed , DOI )

Jennifer W Leiding, Tiphanie P Vogel, Valentine G J Santarlas, Rahul Mhaskar, Madison R Smith, Alexandre Carisey, Alexander Vargas-Hernández, Manuel Silva-Carmona, Maximilian Heeg, Anne Rensing-Ehl, Bénédicte Neven, Jérôme Hadjadj, Sophie Hambleton, Timothy Ronan Leahy, Kornvalee Meesilpavikai, Charlotte Cunningham-Rundles, Cullen M Dutmer, Svetlana O Sharapova, Mervi Taskinen, Ignatius Chua, Rosie Hague, Christian Klemann, Larysa Kostyuchenko, Tomohiro Morio, Akaluck Thatayatikom, Ahmet Ozen, Anna Scherbina, Cindy S Bauer, Sarah E Flanagan, Eleonora Gambineri, Lisa Giovannini-Chami, Jennifer Heimall, Kathleen E Sullivan, Eric Allenspach, Neil Romberg, Sean G Deane, Benjamin T Prince, Melissa J Rose, John Bohnsack, Talal Mousallem, Rohith Jesudas, Maria Marluce Dos Santos Vilela, Michael O'Sullivan, Jana Pachlopnik Schmid, Štěpánka Průhová, Adam Klocperk, Matthew Rees, Helen Su, Sami Bahna, Safa Baris, Lisa M Bartnikas, Amy Chang Berger, Tracy A Briggs, Shannon Brothers, Vanessa Bundy, Alice Y Chan, Shanmuganathan Chandrakasan, Mette Christiansen, Theresa Cole, Matthew C Cook, Mukesh M Desai, Ute Fischer, David A Fulcher, Silvanna Gallo, Amelie Gauthier, Andrew R Gennery, José Gonçalo Marques, Frédéric Gottrand, Bodo Grimbacher, Eyal Grunebaum, Emma Haapaniemi, Sari Hämäläinen, Kaarina Heiskanen, Tarja Heiskanen-Kosma, Hal M Hoffman, Luis Ignacio Gonzalez-Granado, Anthony L Guerrerio, Leena Kainulainen, Ashish Kumar, Monica G Lawrence, Carina Levin, Timi Martelius, Olaf Neth, Peter Olbrich, Alejandro Palma, Niraj C Patel, Tamara Pozos, Kahn Preece, Saúl Oswaldo Lugo Reyes, Mark A Russell, Yael Schejter, Christine Seroogy, Jan Sinclair, Effie Skevofilax, Daniel Suan, Daniel Suez, Paul Szabolcs, Helena Velasco, Klaus Warnatz, Kelly Walkovich, Austen Worth, , Mikko R J Seppänen, Troy R Torgerson, Georgios Sogkas, Stephan Ehl, Stuart G Tangye, Megan A Cooper, Joshua D Milner, Lisa R Forbes Satter: Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome. J Allergy Clin Immunol. 2023.04; 151 (4): 1081-1095. ( PubMed , DOI )

Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M Allende, Rebeca Alonso-Arias, Andrés Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T Bryceson, Ingrid G Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E Covill, Ottavia M Delmonte, Loubna El Zein, Carlos Flores, Peter K Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M Alsohime, Hagit Baris-Feldman, Manish J Butte, Stefan N Constantinescu, Megan A Cooper, Clifton L Dalgard, Jacques Fellay, James R Heath, Yu-Lung Lau, Richard P Lifton, Tom Maniatis, Trine H Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, , , , , , , , , , Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D Notarangelo, Stephanie Boisson-Dupuis, Helen C Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobat: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 Genome Med. 2023.04; 15 (1): 22. ( PubMed , DOI )

Masatsune Tsujioka, Keisuke Miyazawa, Masaki Ohmuraya, Yoichi Nibe, Tetsuya Shirokawa, Haruko Hayasaka, Tsunekazu Mizushima, Takeshi Fukuma, Shigeomi Shimizu: Identification of a novel type of focal adhesion remodelling via FAK/FRNK replacement, and its contribution to cancer progression. Cell Death Dis. 2023.04; 14 (4): 256. ( PubMed , DOI )

Kento Inoue, Satoshi Miyamoto, Dan Tomomasa, Eriko Adachi, Shohei Azumi, Yasuo Horikoshi, Takashi Ishihara, Shinya Osone, Yuta Kawahara, Ko Kudo, Zenichiro Kato, Hidenori Ohnishi, Kenichi Kashimada, Kohsuke Imai, Osamu Ohara, Menno C van Zelm, Morton J Cowan, Tomohiro Morio, Hirokazu Kanegane: Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan. J Clin Immunol. 2023.04; 43 (3): 585-594. ( PubMed , DOI )

Dan Tomomasa, Motoi Yamashita, Takahiro Kamiya, Tomohiro Morio, Hirokazu Kanegane: Maternal Gonosomal Mosaicism Causes XIAP Deficiency. J Clin Immunol. 2023.04; 43 (3): 525-527. ( PubMed , DOI )

Maiko Hirai, Hiroshi Yagasaki, Koji Kanezawa, Masaru Ueno, Katsuyoshi Shimozawa, Kohsuke Imai, Tomohiro Morio, Motohiro Kato, Yoshihiro Gocho, Satoshi Narumi, Yasuhiro Ebihara, Ichiro Morioka: Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9 / SAMD9L Germline Mutation. J Pediatr Hematol Oncol. 2023.03; 45 (2): e290-e293. ( PubMed , DOI )

Shuya Kaneko, Masaki Shimizu, Futaba Miyaoka, Asami Shimbo, Hitoshi Irabu, Mao Mizuta, Yasuo Nakagishi, Naomi Iwata, Junya Fujimura, Masaaki Mori, Tomohiro Morio: The dynamics of laboratory markers reflecting cytokine overproduction in macrophage activation syndrome complicated with systemic juvenile idiopathic arthritis. Clin Immunol. 2023.03; 248 109270. ( PubMed , DOI )

Dan Tomomasa, Takeshi Isoda, Noriko Mitsuiki, Kento Inoue, Akira Nishimura, Kazuhiro Uda, Toru Uchiyama, Motoi Yamashita, Takahiro Kamiya, Akifumi Endo, Masatoshi Takagi, Kohsuke Imai, Michiko Kajiwara, Morton J Cowan, Tomohiro Morio, Hirokazu Kanegane: Successful TCRαβ/CD19-Depleted Hematopoietic Cell Transplantation for a Patient With Artemis Deficiency. J Pediatr Hematol Oncol. 2023.03; 45 (2): e285-e289. ( PubMed , DOI )

TATSUYA IWAMOTO, SHIGEOMI SHIMIZU, HAJIME TAJIMA-SAKURAI, HIROFUMI YAMAGUCHI, YUYA NISHIDA, SATOKO ARAKAWA, HIROTAKA WATADA : Inhibition of Insulin Secretion Induces Golgi Morphological Changes Juntendo medical Journal. 2023.02; 69 (1): 42-49. ( PubMed , DOI )

Ryosuke Wakatsuki, Masaki Shimizu, Asami Shimbo, Eriko Adachi, Toru Kanamori, Susumu Yamazaki, Tomohiro Udagawa, Kei Takasawa, Kenichi Kashimada, Tomohiro Morio, Masaaki Mori: Atrophic autoimmune thyroiditis complicated with systemic lupus erythematosus. Mod Rheumatol Case Rep. 2023.01; 7 (1): 65-67. ( PubMed , DOI )

Aoi Morishita, Tzu-Wen Yeh, Kouki Tomari, Mihoko Furuichi, Kenichi Kashimada, Tomohiro Morio, Masatoshi Takagi, Kohsuke Imai: Transient immune deficiency accompanied with homozygous CBL rare variant. Pediatr Int. 2023.01; 65 (1): e15439. ( PubMed , DOI )

Shizuka Kirino, Analia Yogi, Eriko Adachi, Hisae Nakatani, Maki Gau, Ryosei Iemura, Haruki Yamano, Toru Kanamori, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Kentaro Okamoto, Tomohiro Udagawa, Kei Takasawa, Tomohiro Morio, Kenichi Kashimada: Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report. Sex Dev. 2023; 17 (1): 51-55. ( PubMed , DOI )

Morikuni Tobita, Yosuke Masubuchi, Yorimasa Ogata, Akio Mitani, Takeshi Kikuchi, Taku Toriumi, Jorge Luis Montenegro Raudales, Hiroshi Mizuno, Yuki Suzuki, Keiko Wakana, Hikari Yoneda, Reika Kamijo, Masahiro Kino-Oka, Tomohiro Morio, Kiyoshi Okada, Shinya Murakami, Masaki Honda: Study protocol for periodontal tissue regeneration with a mixture of autologous adipose-derived stem cells and platelet rich plasma: A multicenter, randomized, open-label clinical trial. Regen Ther. 2022.12; 21 436-441. ( PubMed , DOI )

Shuya Kaneko, Masaki Shimizu, Asami Shimbo, Hitoshi Irabu, Susumu Yamazaki, Toru Kanamori, Tomohiro Udagawa, Tomohiro Morio, Masaaki Mori: A girl with hearing loss, dizziness, hypertension, and pyelonephritis with ureteral edema: Answers Pediatr Nephrol. 2022.12; 37 (12): 3059-3061. ( PubMed , DOI )

Hajime Tajima Sakurai, Satoko Arakawa, Saori Noguchi, Shigeomi Shimizu: FLIP-based autophagy-detecting technique reveals closed autophagic compartments. Sci Rep. 2022.12; 12 (1): 22452. ( PubMed , DOI )

Kaneko Shuya, Shimizu Masaki, Shimbo Asami, Irabu Hitoshi, Yamazaki Susumu, Kanamori Toru, Udagawa Tomohiro, Morio Tomohiro, Mori Masaaki: A girl with hearing loss, dizziness, hypertension, and pyelonephritis with ureteral edema: Questions PEDIATRIC NEPHROLOGY. 2022.12; 37 (12): 3057-3058. ( PubMed , DOI )

Maho Hatano, Tomohiro Udagawa, Toru Kanamori, Akito Sutani, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Tomohiro Morio, Masato Nishioka: A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria Hum Genome Var. 2022.12; 9 (1): 42. ( PubMed , DOI )

Kazuhiro Watanabe, Atsumi Tsuji-Hosokawa, Atsuko Hashimoto, Kaoru Konishi, Nobuyuki Ishige, Harumi Yajima, Akito Sutani, Hisae Nakatani, Maki Gau, Kei Takasawa, Toshihiro Tajima, Tomonobu Hasegawa, Tomohiro Morio, Kenichi Kashimada: The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency. J Clin Endocrinol Metab. 2022.11; 107 (12): 3341-3352. ( PubMed , DOI )

Kirino S, Suzuki M, Ogawa T, Takasawa K, Adachi E, Gau M, Takahashi K, Ikeno M, Yamada M, Suzuki H, Kosaki K, Moriyama K, Yoshida M, Morio T, Kashimada K: Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant. European Journal of Medical Genetics. 2022.11; 65 (11): 104623. ( PubMed , DOI )

Tomoko Niwano, Tadashi Hosoya, Saori Kadowaki, Etsushi Toyofuku, Takuya Naruto, Masaki Shimizu, Hidenori Ohnishi, Ryuji Koike, Tomohiro Morio, Kohsuke Imai, Masayuki Yoshida, Shinsuke Yasuda: An adult case of suspected A20 haploinsufficiency mimicking polyarteritis nodosa. Rheumatology (Oxford). 2022.11; 61 (11): e337-e340. ( PubMed , DOI )

Daiki Niizato, Takeshi Isoda, Noriko Mitsuiki, Shuya Kaneko, Dan Tomomasa, Takahiro Kamiya, Masatoshi Takagi, Kohsuke Imai, Michiko Kajiwara, Masaki Shimizu, Tomohiro Morio, Hirokazu Kanegane: Case report: Optimized ruxolitinib-based therapy in an infant with familial hemophagocytic lymphohistiocytosis type 3. Front Immunol. 2022.11; 13 977463. ( PubMed , DOI )

Qian Zhang, Andrés Pizzorno, Lisa Miorin, Paul Bastard, Adrian Gervais, Tom Le Voyer, Lucy Bizien, Jeremy Manry, Jérémie Rosain, Quentin Philippot, Kelian Goavec, Blandine Padey, Anastasija Cupic, Emilie Laurent, Kahina Saker, Martti Vanker, Karita Särekannu, , , , , , , , Tamara García-Salum, Marcela Ferres, Nicole Le Corre, Javier Sánchez-Céspedes, María Balsera-Manzanero, Jordi Carratala, Pilar Retamar-Gentil, Gabriela Abelenda-Alonso, Adoración Valiente, Pierre Tiberghien, Marie Zins, Stéphanie Debette, Isabelle Meyts, Filomeen Haerynck, Riccardo Castagnoli, Luigi D Notarangelo, Luis I Gonzalez-Granado, Nerea Dominguez-Pinilla, Evangelos Andreakos, Vasiliki Triantafyllia, Carlos Rodríguez-Gallego, Jordi Solé-Violán, José Juan Ruiz-Hernandez, Felipe Rodríguez de Castro, José Ferreres, Marisa Briones, Joost Wauters, Lore Vanderbeke, Simon Feys, Chen-Yen Kuo, Wei-Te Lei, Cheng-Lung Ku, Galit Tal, Amos Etzioni, Suhair Hanna, Thomas Fournet, Jean-Sebastien Casalegno, Gregory Queromes, Laurent Argaud, Etienne Javouhey, Manuel Rosa-Calatrava, Elisa Cordero, Teresa Aydillo, Rafael A Medina, Kai Kisand, Anne Puel, Emmanuelle Jouanguy, Laurent Abel, Aurélie Cobat, Sophie Trouillet-Assant, Adolfo García-Sastre, Jean-Laurent Casanova: Autoantibodies against type I IFNs in patients with critical influenza pneumonia. J Exp Med. 2022.11; 219 (11): e20220514. ( PubMed , DOI )

Yanagi T, Kikuchi H, Susa K, Takahashi N, Bamba H, Suzuki T, Nakano Y, Fujiki T, Mori Y, Ando F, Mandai S, Mori T, Takeuchi K, Honda S, Torii S, Shimizu S, Rai T, Uchida S, Sohara E: Absence of ULK1 decreases AMPK activity in the kidney, leading to chronic kidney disease progression. Genes to cells. 2022.11; 28 (1): 5-14. ( PubMed , DOI )

Motoi Yamashita, Shiori Eguchi, Dan Tomomasa, Takahiro Kamiya, Daiki Niizato, Noriko Mitsuiki, Takeshi Isoda, Hanako Funakoshi, Yuki Mizuno, Kentaro Okamoto, Tuan Minh Nguyen, Hidetoshi Takada, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio, Hirokazu Kanegane: Case report: HLA-haploidentical hematopoietic cell transplant with posttransplant cyclophosphamide in a patient with leukocyte adhesion deficiency type I. Front Immunol. 2022.10; 13 1020362. ( PubMed , DOI )

Satoshi Miyamoto, Takasuke Ebato, Eri Watanabe, Tomohiro Morio, Hirokazu Kanegane: B-Cell Immune Reconstitution with Mixed Chimerism After Hematopoietic Cell Transplantation in a Patient with Severe Combined Immunodeficiency J Clin Immunol. 2022.10; 42 (7): 1392-1395. ( PubMed , DOI )

Alexandre Bolze, Trine H Mogensen, Shen-Ying Zhang, Laurent Abel, Evangelos Andreakos, Lisa M Arkin, Alessandro Borghesi, Petter Brodin, David Hagin, Giuseppe Novelli, Satoshi Okada, Jonny Peter, Laurent Renia, Karine Severe, Pierre Tiberghien, Donald C Vinh, , Elizabeth T Cirulli, Jean-Laurent Casanova, Elena W Y Hsieh: Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis. J Clin Immunol. 2022.10; 42 (7): 1354-1359. ( PubMed , DOI )

Yuki Hitomi, Yoshihiro Aiba, Kazuko Ueno, Nao Nishida, Yosuke Kawai, Minae Kawashima, Makoto Tsuiji, Chisato Iwabuchi, Sanami Takada, Noriko Miyake, Masao Nagasaki, Katsushi Tokunaga, Minoru Nakamura: rs2013278 in the multiple immunological-trait susceptibility locus CD28 regulates the production of non-functional splicing isoforms. Human genomics. 2022.10; 16 (1): 46. ( PubMed , DOI )

Toshihiro Yamaguchi, Masao Iwagami, Chieko Ishiguro, Daisuke Fujii, Norihisa Yamamoto, Hiroki Sakai, Takashi Tsuboi, Hikari Umeda, Natsumi Kinoshita, Toyotaka Iguchi, Akira Oka, Tomohiro Morio, Kiyohito Nakai, Shuichiro Hayashi, Shinya Tsuruta: Updated report of COVID-19 vaccine safety monitoring in Japan: Booster shots and paediatric vaccinations. Lancet Reg Health West Pac. 2022.10; 27 100600. ( PubMed , DOI )

Aziz Bousfiha, Abderrahmane Moundir, Stuart G Tangye, Capucine Picard, Leïla Jeddane, Waleed Al-Herz, Charlotte C Rundles, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Eric Oksenhendler, Anne Puel, Jennifer Puck, Mikko R J Seppänen, Raz Somech, Helen C Su, Kathleen E Sullivan, Troy R Torgerson, Isabelle Meyts: The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity. J Clin Immunol. 2022.10; 42 (7): 1508-1520. ( PubMed , DOI )

Asami Shimbo, Masaki Shimizu, Shuya Kaneko, Hitoshi Irabu, Tomohiro Morio: Clinical Significance of Vascular Ultrasonography in the Diagnosis of Early Childhood Takayasu Arteritis Presenting as Fever of Unknown Origin. J Paediatr Child Health. 2022.10; 58 (10): 1910-1911. ( PubMed , DOI )

Yuji Takahashi, Hidetoshi Date, Hideki Oi, Takeya Adachi, Noriaki Imanishi, En Kimura, Hotake Takizawa, Shinji Kosugi, Naomichi Matsumoto, Kenjiro Kosaki, Yoichi Matsubara, , Hidehiro Mizusawa: Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures. J Hum Genet. 2022.09; 67 (9): 505-513. ( PubMed , DOI )

Dan Tomomasa, Eitaro Hiejima, Takayuki Miyamoto, Kay Tanita, Masaki Matsuoka, Daiki Niizato, Noriko Mitsuiki, Takeshi Isoda, Takahiro Yasumi, Menno C van Zelm, Tomohiro Morio, Hirokazu Kanegane: Recurrent tandem duplication of UNC13D in familial hemophagocytic lymphohistiocytosis type 3. Clin Immunol. 2022.09; 242 109104. ( PubMed , DOI )

Mai Okuyama, Saeko Morino, Kaori Tanaka, Haruna Nakamura-Miwa, Sayaka Takanashi, Satoru Arai, Masaki Ochiai, Koji Ishii, Motoi Suzuki, Akira Oka, Tomohiro Morio, Keiko Tanaka-Taya: Vasovagal reactions after COVID-19 vaccination in Japan. Vaccine. 2022.09; 40 (41): 5997-6000. ( PubMed , DOI )

Yoji Sasahara, Taizo Wada, Tomohiro Morio: Impairment of cytokine production following immunological synapse formation in patients with Wiskott-Aldrich syndrome and leukocyte adhesion deficiency type 1. Clin Immunol. 2022.09; 242 109098. ( PubMed , DOI )

Sho Hosaka, Takahiro Kido, Kazuo Imagawa, Hiroko Fukushima, Tomohiro Morio, Shigeaki Nonoyama, Hidetoshi Takada: Correction to: Vaccination for Patients with Inborn Errors of Immunity: A Nationwide Survey in Japan. J Clin Immunol. 2022.08; 42 (6): 1349-1350. ( PubMed , DOI )

Tanaka Y, Sato T, Yagishita N, Yamauchi J, Araya N, Aratani S, Takahashi K, Kunitomo Y, Nagasaka M, Kanda Y, Uchimaru K, Morio T, Yamano Y.: Potential role of HTLV-1 Tax-specific cytotoxic t lymphocytes expressing a unique t-cell receptor to promote inflammation of the central nervous system in myelopathy associated with HTLV-1. Front Immunol. 2022.08; 13 993025. ( PubMed , DOI )

Qian Zhang, Daniela Matuozzo, Jérémie Le Pen, Danyel Lee, Leen Moens, Takaki Asano, Jonathan Bohlen, Zhiyong Liu, Marcela Moncada-Velez, Yasemin Kendir-Demirkol, Huie Jing, Lucy Bizien, Astrid Marchal, Hassan Abolhassani, Selket Delafontaine, Giorgia Bucciol, , Gulsum Ical Bayhan, Sevgi Keles, Ayca Kiykim, Selda Hancerli, Filomeen Haerynck, Benoit Florkin, Nevin Hatipoglu, Tayfun Ozcelik, Guillaume Morelle, Mayana Zatz, Lisa F P Ng, David Chien Lye, Barnaby Edward Young, Yee-Sin Leo, Clifton L Dalgard, Richard P Lifton, Laurent Renia, Isabelle Meyts, Emmanuelle Jouanguy, Lennart Hammarström, Qiang Pan-Hammarström, Bertrand Boisson, Paul Bastard, Helen C Su, Stéphanie Boisson-Dupuis, Laurent Abel, Charles M Rice, Shen-Ying Zhang, Aurélie Cobat, Jean-Laurent Casanova: Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia. J Exp Med. 2022.08; 219 (8): ( PubMed , DOI )

Tomoya Isobe, Masatoshi Takagi, Aiko Sato-Otsubo, Akira Nishimura, Genta Nagae, Chika Yamagishi, Moe Tamura, Yosuke Tanaka, Shuhei Asada, Reina Takeda, Akiho Tsuchiya, Xiaonan Wang, Kenichi Yoshida, Yasuhito Nannya, Hiroo Ueno, Ryo Akazawa, Itaru Kato, Takashi Mikami, Kentaro Watanabe, Masahiro Sekiguchi, Masafumi Seki, Shunsuke Kimura, Mitsuteru Hiwatari, Motohiro Kato, Shiro Fukuda, Kenji Tatsuno, Shuichi Tsutsumi, Akinori Kanai, Toshiya Inaba, Yusuke Shiozawa, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Rishi S Kotecha, Mark N Cruickshank, Fumihiko Ishikawa, Tomohiro Morio, Mariko Eguchi, Takao Deguchi, Nobutaka Kiyokawa, Yuki Arakawa, Katsuyoshi Koh, Yuki Aoki, Takashi Ishihara, Daisuke Tomizawa, Takako Miyamura, Eiichi Ishii, Shuki Mizutani, Nicola K Wilson, Berthold Göttgens, Satoru Miyano, Toshio Kitamura, Susumu Goyama, Akihiko Yokoyama, Hiroyuki Aburatani, Seishi Ogawa, Junko Takita: Multi-omics analysis defines highly refractory RAS burdened immature subgroup of infant acute lymphoblastic leukemia. Nat Commun. 2022.08; 13 (1): 4501. ( PubMed , DOI )

Ryuichi Nakagawa, Kei Takasawa, Maki Gau, Atsumi Tsuji-Hosokawa, Hideya Kawaji, Yasuhiro Murakawa, Shuji Takada, Masashi Mikami, Satoshi Narumi, Maki Fukami, Rajini Sreenivasan, Tetsuo Maruyama, Elena J Tucker, Liang Zhao, Josephine Bowles, Andrew Sinclair, Peter Koopman, Yoshihide Hayashizaki, Tomohiro Morio, Kenichi Kashimada: Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency. Hum Mol Genet. 2022.07; 31 (13): 2223-2235. ( PubMed , DOI )

Akira Nishimura, Satoshi Miyamoto, Kohsuke Imai, Tomohiro Morio: Conditioning regimens for inborn errors of immunity: current perspectives and future strategies. Int J Hematol. 2022.07; 116 (1): 7-15. ( PubMed , DOI )

Tessa Mollie Campbell, Zhiyong Liu, Qian Zhang, Marcela Moncada-Velez, Laura E Covill, Peng Zhang, Ilad Alavi Darazam, Paul Bastard, Lucy Bizien, Giorgia Bucciol, Sara Lind Enoksson, Emmanuelle Jouanguy, Şemsi Nur Karabela, Taushif Khan, Yasemin Kendir-Demirkol, Andres Augusto Arias, Davood Mansouri, Per Marits, Nico Marr, Isabelle Migeotte, Leen Moens, Tayfun Ozcelik, Isabelle Pellier, Anton Sendel, Mohammad Shahrooei, C I Edvard Smith, Isabelle Vandernoot, Karen Willekens, , Peter Bergman, Laurent Abel, Aurélie Cobat, Jean-Laurent Casanova, Isabelle Meyts, Yenan T Bryceson: Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency. J Exp Med. 2022.07; 219 (7): ( PubMed , DOI )

Eto S, Nukui Y, Tsumura M, Nakagama Y, Kashimada K, Mizoguchi Y, Utsumi T, Taniguchi M, Sakura F, Noma K, Yoshida Y, Ohshimo S, Nagashima S, Okamoto K, Endo A, Imai K, Kanegane H, Ohnishi H, Hirata S, Sugiyama E, Shime N, Ito M, Ohge H, Kido Y, Bastard P, Casanova JL, Ohara O, Tanaka J, Morio T, Okada S: Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-19. Journal of clinical immunology. 2022.06; 42 (7): 1360-1370. ( PubMed , DOI )

Toshihiro Yamaguchi, Masao Iwagami, Chieko Ishiguro, Daisuke Fujii, Norihisa Yamamoto, Manabu Narisawa, Takashi Tsuboi, Hikari Umeda, Natsumi Kinoshita, Toyotaka Iguchi, Tatsuya Noda, Shinya Tsuruta, Akira Oka, Tomohiro Morio, Kiyohito Nakai, Shuichiro Hayashi: Safety monitoring of COVID-19 vaccines in Japan Lancet Reg Health West Pac. 2022.06; 23 100442. ( PubMed , DOI )

Stuart G Tangye, Waleed Al-Herz, Aziz Bousfiha, Charlotte Cunningham-Rundles, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Eric Oksenhendler, Capucine Picard, Anne Puel, Jennifer Puck, Mikko R J Seppänen, Raz Somech, Helen C Su, Kathleen E Sullivan, Troy R Torgerson, Isabelle Meyts: Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022.06; ( PubMed , DOI )

Petter Brodin, Giorgio Casari, Liam Townsend, Cliona O'Farrelly, Ivan Tancevski, Judith Löffler-Ragg, Trine H Mogensen, Jean Laurent Casanova, : Studying severe long COVID to understand post-infectious disorders beyond COVID-19. Nat Med. 2022.05; 28 (5): 879-882. ( PubMed , DOI )

Takagi M, Ogawa C, Iehara T, Aoki-Nogami Y, Ishibashi E, Imai M, Kimura T, Nagata M, Yasuhara M, Masutani M, Yoshimura K, Tomizawa D, Ogawa A, Yonemori K, Morishita A, Miyamoto S, Takita J, Kihara T, Nobori K, Hasebe K, Miya F, Ikeda S, Shioda Y, Matsumoto K, Fujimura J, Mizutani S, Morio T, Hosoi H, Koike R: First phase 1 clinical study of olaparib in pediatric patients with refractory solid tumors. Cancer. 2022.05; 128 (15): 2949-2957. ( PubMed , DOI )

Motoi Yamashita, Tomohiro Morio: AIOLOS Variants Causing Immunodeficiency in Human and Mice Front Immunol. 2022.04; 13 866582. ( PubMed , DOI )

Yusuke Noguchi, Atsuko Taki, Izumi Honda, Manabu Sugie, Tsunanori Shidei, Kazuyuki Ito, Haruka Iwata, Akira Koyama, Kaoru Okazaki, Masatoshi Kondo, Chikako Morioka, Kenichi Kashimada, Tomohiro Morio: Transcriptome analysis of umbilical cord mesenchymal stem cells revealed fetal programming due to chorioamnionitis Sci Rep. 2022.04; 12 (1): 6537. ( PubMed , DOI )

Yuki Ichimura, Risa Konishi, Miwako Shobo, Sae Inoue, Mari Okune, Akemi Maeda, Ryota Tanaka, Noriko Kubota, Isao Matsumoto, Akiko Ishii, Akira Tamaoka, Asami Shimbo, Masaaki Mori, Tomohiro Morio, Takayuki Kishi, Takako Miyamae, Jantima Tanboon, Michio Inoue, Ichizo Nishino, Manabu Fujimoto, Toshifumi Nomura, Naoko Okiyama: Reliability of antinuclear matrix protein 2 antibody assays in idiopathic inflammatory myopathies is dependent on target protein properties J Dermatol. 2022.04; 49 (4): 441-447. ( PubMed , DOI )

Miyamoto S, Umeda K, Kurata M, Yanagimachi M, Iguchi A, Sasahara Y, Okada K, Koike T, Tanoshima R, Ishimura M, Yamada M, Sato M, Takahashi Y, Kajiwara M, Kawaguchi H, Inoue M, Hashii Y, Yabe H, Kato K, Atsuta Y, Imai K, Morio T.: Hematopoietic Cell Transplantation for Inborn Errors of Immunity Other than Severe Combined Immunodeficiency in Japan: Retrospective Analysis for 1985-2016 J Clin Immunol. 2022.04; 42 (3): 529-545. ( PubMed )

Sanami Takada, Ingrid Pico-Knijnenburg, Malgorzata Pac, Adilia Warris, Mirjam van der Burg: A Pitfall of Whole Exome Sequencing: Variants in the 5'UTR Splice Site of BTK Causing XLA. Journal of clinical immunology. 2022.04; 42 (3): 709-712. ( PubMed , DOI )

Shohei Eto, Yoko Nukui, Miyuki Tsumura, Yu Nakagama, Kenichi Kashimada, Yoko Mizoguchi, Takanori Utsumi, Maki Taniguchi, Fumiaki Sakura, Kosuke Noma, Yusuke Yoshida, Shinichiro Ohshimo, Shintaro Nagashima, Keisuke Okamoto, Akifumi Endo, Kohsuke Imai, Hirokazu Kanegane, Hidenori Ohnishi, Shintaro Hirata, Eiji Sugiyama, Nobuaki Shime, Masanori Ito, Hiroki Ohge, Yasutoshi Kido, Paul Bastard, Jean-Laurent Casanova, Junko Tanaka, Tomohiro Morio, Satoshi Okada: Neutralizing Type I Interferon Autoantibodies in Japanese Patients With Severe COVID-19 Res Sq. 2022.03; ( PubMed , DOI )

Dan Tomomasa, Claire Booth, Jack J Bleesing, Takeshi Isoda, Chie Kobayashi, Kazutoshi Koike, Takeshi Taketani, Akihisa Sawada, Akihiro Tamura, Rebecca A Marsh, Tomohiro Morio, Andrew R Gennery, Hirokazu Kanegane: Preemptive hematopoietic cell transplantation for asymptomatic patients with X-linked lymphoproliferative syndrome type 1 Clin Immunol. 2022.03; 237 108993. ( PubMed , DOI )

Yuki Ichimura, Risa Konishi, Miwako Shobo, Sae Inoue, Mari Okune, Akemi Maeda, Ryota Tanaka, Noriko Kubota, Isao Matsumoto, Akiko Ishii, Akira Tamaoka, Asami Shimbo, Masaaki Mori, Tomohiro Morio, Takayuki Kishi, Takako Miyamae, Jantima Tanboon, Michio Inoue, Ichizo Nishino, Manabu Fujimoto, Toshifumi Nomura, Naoko Okiyama: Anti-nuclear matrix protein 2 antibody-positive inflammatory myopathies represent extensive myositis without dermatomyositis-specific rash. Rheumatology (Oxford). 2022.03; 61 (3): 1222-1227. ( PubMed , DOI )

Jérémy Manry, Paul Bastard, Adrian Gervais, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Eleftherios Michailidis, Hans-Heinrich Hoffmann, Shohei Eto, Marina Garcia-Prat, Lucy Bizien, Alba Parra-Martínez, Rui Yang, Liis Haljasmägi, Mélanie Migaud, Karita Särekannu, Julia Maslovskaja, Nicolas de Prost, Yacine Tandjaoui-Lambiotte, Charles-Edouard Luyt, Blanca Amador-Borrero, Alexandre Gaudet, Julien Poissy, Pascal Morel, Pascale Richard, Fabrice Cognasse, Jesús Troya, Sophie Trouillet-Assant, Alexandre Belot, Kahina Saker, Pierre Garçon, Jacques G Rivière, Jean-Christophe Lagier, Stéphanie Gentile, Lindsey B Rosen, Elana Shaw, Tomohiro Morio, et al.: The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies. Proc Natl Acad Sci U S A. 2022.03; 119 (21): e2200413119. ( PubMed , DOI )

Qian Zhang, Paul Bastard, Aurélie Cobat, Jean-Laurent Casanova: Human genetic and immunological determinants of critical COVID-19 pneumonia. Nature. 2022.03; 603 (7902): 587-598. ( PubMed , DOI )

Kay Tanita, Yoshiki Kawamura, Hiroki Miura, Noriko Mitsuiki, Takahiro Tomoda, Kento Inoue, Akihiro Iguchi, Masafumi Yamada, Taro Yoshida, Hideki Muramatsu, Norimasa Tada, Toshihiro Matsui, Motohiro Kato, Katsuhide Eguchi, Masataka Ishimura, Shouichi Ohga, Kohsuke Imai, Tomohiro Morio, Tetsushi Yoshikawa, Hirokazu Kanegane: Case Report: Rotavirus Vaccination and Severe Combined Immunodeficiency in Japan. Front Immunol. 2022.02; 13 786375. ( PubMed , DOI )

David Egg, Ina Caroline Rump, Noriko Mitsuiki, Jessica Rojas-Restrepo, Maria-Elena Maccari, Charlotte Schwab, Annemarie Gabrysch, Klaus Warnatz, Sigune Goldacker, Virginia Patiño, Daniel Wolff, Satoshi Okada, Seiichi Hayakawa, Yoshiaki Shikama, Kenji Kanda, Kohsuke Imai, Manabu Sotomatsu, Makoto Kuwashima, Takahiro Kamiya, Tomohiro Morio, Kazuaki Matsumoto, Takeshi Mori, Yuri Yoshimoto, Ingunn Dybedal, Maria Kanariou, Zeynep Yesim Kucuk, Hugo Chapdelaine, Lenka Petruzelkova, Hanns-Martin Lorenz, Kathleen E Sullivan, Jennifer Heimall, Michel Moutschen, Jiri Litzman, Mike Recher, Michael H Albert, Fabian Hauck, Suranjith Seneviratne, Jana Pachlopnik Schmid, Antonios Kolios, Gary Unglik, Christian Klemann, Scott Snapper, Lisa Giulino-Roth, Michael Svaton, Craig D Platt, Sophie Hambleton, Olaf Neth, Geraldine Gosse, Steffen Reinsch, Dirk Holzinger, Yae-Jean Kim, Shahrzad Bakhtiar, Faranaz Atschekzei, Reinhold Schmidt, Georgios Sogkas, Shanmuganathan Chandrakasan, William Rae, Beata Derfalvi, Hanne Vibeke Marquart, Ahmet Ozen, Ayca Kiykim, Elif Karakoc-Aydiner, Pavlína Králíčková, Godelieve de Bree, Dimitra Kiritsi, Markus G Seidel, Robin Kobbe, Jennifer Dantzer, Laia Alsina, Thais Armangue, Vassilios Lougaris, Philipp Agyeman, Sofia Nyström, David Buchbinder, Peter D Arkwright, Bodo Grimbacher: Therapeutic options for CTLA-4 Insufficiency J Allergy Clin Immunol. 2022.02; 149 (2): 736-746. ( PubMed , DOI )

Hiroki Matsuda, Yoichi Nibe-Shirakihara, Akiko Tamura, Emi Aonuma, Satoko Arakawa, Kana Otsubo, Yasuhiro Nemoto, Takashi Nagaishi, Kiichiro Tsuchiya, Shigeomi Shimizu, Averil Ma, Mamoru Watanabe, Motohiro Uo, Ryuichi Okamoto, Shigeru Oshima: Nickel particles are present in Crohn's disease tissue and exacerbate intestinal inflammation in IBD susceptible mice. Biochem Biophys Res Commun. 2022.02; 592 74-80. ( PubMed , DOI )

Dan Tomomasa, Kay Tanita, Seishi Higashi, Yuri Tasaka, Takashi Shimamura, Urara Sakurai, Tomoyo Matsubara, Satoshi Okada, Tomohiro Morio, Hirokazu Kanegane: Early diagnosis of partial interferon-γ receptor 1 deficiency prevents the development of Bacille de Calmette et Guérin osteomyelitis Clin Immunol. 2022.02; 235 108933. ( PubMed , DOI )

Yusuke Noguchi, Tsunanori Shidei, Chikako Morioka, Kenichi Kashimada, Tomohiro Morio: A suspected case of heterotopic glia in an MM-twin discordant for anencephaly Pediatr Int. 2022.01; 64 (1): e15027. ( PubMed , DOI )

Teppei Ohkawa, Akira Nishimura, Kenjiro Kosaki, Yuki Aoki-Nogami, Daisuke Tomizawa, Kenichi Kashimada, Tomohiro Morio, Motohiro Kato, Shuki Mizutani, Masatoshi Takagi: PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome. J Hum Genet. 2022.01; 67 (1): 51-54. ( PubMed , DOI )

Yamaguchi Y, Takasawa K, Irabu H, Hiratoko K, Ichigi Y, Hirata K, Tamura Y, Murakoshi M, Yamashita M, Nakatani H, Shimoda M, Ishii T, Udagawa T, Shimizu M, Kanegane H, Morio T: Infliximab treatment for refractory COVID-19-associated multisystem inflammatory syndrome in a Japanese child. Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy. 2022.01; ( PubMed , DOI )

Etsushi Toyofuku, Kozue Takeshita, Hidenori Ohnishi, Yuko Kiridoshi, Hiroaki Masuoka, Tomonori Kadowaki, Ryuta Nishikomori, Kenichi Nishimura, Chie Kobayashi, Takasuke Ebato, Tomonari Shigemura, Yuzaburo Inoue, Wataru Suda, Masahira Hattori, Tomohiro Morio, Kenya Honda, Hirokazu Kanegane: Dysregulation of the Intestinal Microbiome in Patients With Haploinsufficiency of A20. Front Cell Infect Microbiol. 2022.01; 11 787667. ( PubMed , DOI )

Dan Tomomasa, Takeshi Sato, Tomonobu Hasegawa, Tomohiro Morio, Hirokazu Kanegane: Cartilage-hair hypoplasia with T-cell dysfunction. Pediatr Int. 2022.01; 64 (1): e15080. ( PubMed , DOI )

Sho Hosaka, Takahiro Kido, Kazuo Imagawa, Hiroko Fukushima, Tomohiro Morio, Shigeaki Nonoyama, Hidetoshi Takada: Vaccination for Patients with Inborn Errors of Immunity: a Nationwide Survey in Japan J Clin Immunol. 2022.01; 43 (1): 183-194. ( PubMed , DOI )

Akihiro Hoshino, Etsushi Toyofuku, Noriko Mitsuiki, Motoi Yamashita, Keisuke Okamoto, Michio Yamamoto, Kenji Kanda, Genki Yamato, Dai Keino, Yuri Yoshimoto-Suzuki, Junji Kamizono, Yasuhiro Onoe, Takuya Ichimura, Mika Nagao, Masaru Yoshimura, Koji Tsugawa, Toru Igarashi, Kanako Mitsui-Sekinaka, Yujin Sekinaka, Takehiko Doi, Takahiro Yasumi, Yozo Nakazawa, Masatoshi Takagi, Kohsuke Imai, Shigeaki Nonoyama, Tomohiro Morio, Sylvain Latour, Hirokazu Kanegane: Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study Front Immunol. 2022.01; 12 784901. ( PubMed , DOI )

Maki Gau, Ryota Suga, Atsushi Hijikata, Ayako Kashimada, Masatoshi Takagi, Ryuichi Nakagawa, Kei Takasawa, Tsuyoshi Shirai, Kenichi Kashimada, Tomohiro Morio: A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands. Front Endocrinol (Lausanne). 2022; 13 1033074. ( PubMed , DOI )

Ishii T, Nawa N, Morio T, Fujiwara T: Association between nationwide introduction of public-access defibrillation and sudden cardiac death in Japan: An interrupted time-series analysis. International journal of cardiology. 2021.12; ( PubMed , DOI )

Tsubasa Okano, Akira Nishimura, Kento Inoue, Takuya Naruto, Shown Tokoro, Takahiro Tomoda, Takahiro Kamiya, Asami Simbo, Yuko Akutsu, Keisuke Okamoto, Tzuwen Yeh, Takeshi Isoda, Masakatsu Yanagimachi, Michiko Kajiwara, Kohsuke Imai, Hirokazu Kanegane, Masaaki Mori, Tomohiro Morio, Masatoshi Takagi: Somatic mutation in RUNX1 underlies mucocutaneus inflammatory manifestations. Rheumatology (Oxford). 2021.12; 60 (12): e429-e431. ( PubMed , DOI )

Hye Sun Kuehn, Jingjie Chang, Motoi Yamashita, Julie E Niemela, Chengcheng Zou, Kazuki Okuyama, Junji Harada, Jennifer L Stoddard, Cristiane J Nunes-Santos, Brigette Boast, Ryan M Baxter, Elena W Y Hsieh, Mary Garofalo, Thomas A Fleisher, Tomohiro Morio, Ichiro Taniuchi, Cullen M Dutmer, Sergio D Rosenzweig: T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients. J Exp Med. 2021.12; 218 (12): ( PubMed , DOI )

Tomomasa D, Isoda T, Mitsuiki N, Yamashita M, Morishita A, Tomoda T, Okano T, Endo A, Kamiya T, Yanagimachi M, Imai K, Kanegane H, Takagi M, Morio T : Successful ruxolitinib administration for a patient with steroid-refractory idiopathic pneumonia syndrome following hematopoietic stem cell transplantation: A case report and literature review. Clin Case Rep. 2021.12; 9 (12): e05242. ( PubMed , DOI )

Saori Noguchi, Shigeomi Shimizu: Molecular mechanisms and biological roles of GOMED FEBS Journal. 2021.11; ( DOI )

Mitsuru Mizuno, Kentaro Endo, Hisako Katano, Naoki Amano, Masaki Nomura, Yoshinori Hasegawa, Nobutake Ozeki, Hideyuki Koga, Naoko Takasu, Osamu Ohara, Tomohiro Morio, Ichiro Sekiya: Transplantation of human autologous synovial mesenchymal stem cells with trisomy 7 into the knee joint and 5 years of follow-up. Stem Cells Transl Med. 2021.11; 10 (11): 1530-1543. ( PubMed , DOI )

Miwako Toyohara, Yuko Kajiho, Etsushi Toyofuku, Chie Takahashi, Keiho Owada, Shoichiro Kanda, Yutaka Harita, Hidenori Ohnishi, Taizo Wada, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Akira Oka: An infant with X-linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report Clin Case Rep. 2021.11; 9 (11): e05093. ( PubMed , DOI )

Kei Takasawa, Hirokazu Kanegane, Kenichi Kashimada, Tomohiro Morio: Endocrinopathies in Inborn Errors of Immunity Front Immunol. 2021.11; 12 786241. ( PubMed , DOI )

Satoshi Miyamoto, Katsutsugu Umeda, Mio Kurata, Akira Nishimura, Masakatsu Yanagimachi, Masataka Ishimura, Maho Sato, Tomonari Shigemura, Motohiro Kato, Yoji Sasahara, Akihiro Iguchi, Takashi Koike, Yoshiyuki Takahashi, Michiko Kajiwara, Masami Inoue, Yoshiko Hashii, Hiromasa Yabe, Koji Kato, Yoshiko Atsuta, Kohsuke Imai, Tomohiro Morio: Hematopoietic Cell Transplantation for Severe Combined Immunodeficiency Patients: a Japanese Retrospective Study. J Clin Immunol. 2021.11; 41 (8): 1865-1877. ( PubMed , DOI )

Yuko Ishii, Aiko Sato-Otsubo, Junko Takita, Tomohiro Morio, Masatoshi Takagi: Copy number alteration analysis for neuroblastoma using droplet digital polymerase chain reaction. Pediatr Int. 2021.10; 63 (10): 1192-1197. ( PubMed , DOI )

Yoko Saito, Kei Takasawa, Maki Gau, Takeru Yamauchi, Ryuichi Nakagawa, Yuichi Miyakawa, Akito Sutani, Atsumi Hosokawa-Tsuji, Shigeru Takishima, Yohei Matsubara, Tomohiro Morio, Kenichi Kashimada: Adrenal suppression and anthropometric data at two years of age was not influenced by the initial hydrocortisone dose in patients with 21-hydroxylase deficiency. Clin Pediatr Endocrinol. 2021.10; 30 (4): 155-161. ( PubMed , DOI )

Shintaro Ono, Kozue Takeshita, Yuko Kiridoshi, Motohiro Kato, Takahiro Kamiya, Akihiro Hoshino, Masakatsu Yanagimachi, Katsuhiro Arai, Ichiro Takeuchi, Nariaki Toita, Toshihiko Imamura, Yoji Sasahara, Junichi Sugita, Kazuko Hamamoto, Masanobu Takeuchi, Shoji Saito, Masaei Onuma, Hiroshi Tsujimoto, Masahiro Yasui, Takashi Taga, Yuki Arakawa, Yuichi Mitani, Nobuyuki Yamamoto, Kohsuke Imai, Wataru Suda, Masahira Hattori, Osamu Ohara, Tomohiro Morio, Kenya Honda, Hirokazu Kanegane: Hematopoietic cell transplantation rescues inflammatory bowel disease and dysbiosis of gut microbiota in XIAP deficiency. J Allergy Clin Immunol Pract. 2021.10; 9 (10): 3767-3780. ( PubMed , DOI )

Motoi Yamashita, Tomohiro Morio: Another Exciting Data-HCT Successfully Cured Patients with DADA2 : A commentary on "Hematopoietic cell transplantation cures adenosine deaminase 2 deficiency: report on 30 patients" by Hashem H et al. J Clin Immunol. 2021.10; 41 (7): 1443-1445. ( PubMed , DOI )

Kasai S, Li X, Torii S, Yasumoto KI, Sogawa K: Direct protein-protein interaction between Npas4 and IPAS mutually inhibits their critical roles in neuronal cell survival and death. Cell death discovery. 2021.10; 7 (1): 300. ( PubMed , DOI )

Keisuke Okamoto, Tomohiro Morio: Inborn errors of immunity with eosinophilia. Allergol Int. 2021.10; 70 (4): 415-420. ( PubMed , DOI )

Koji Kato, Hiromasa Yabe, Nobuyuki Shimozawa, Souichi Adachi, Mineo Kurokawa, Yoshiko Hashii, Atsushi Sato, Nao Yoshida, Makiko Kaga, Osamu Onodera, Shunichi Kato, Yoshiko Atsuta, Tomohiro Morio: Stem cell transplantation for pediatric patients with adrenoleukodystrophy: A nationwide retrospective analysis in Japan. Pediatr Transplant. 2021.10; e14125. ( PubMed , DOI )

M H D Schoenaker, Sanami Takada, M van Deuren, C J Dommering, S S V Henriët, I Pico, W V Vogel, C M R Weemaes, M A A P Willemsen, M van der Burg, J H A M Kaanders: Considerations for radiotherapy in Bloom Syndrome: A case series. 2021.10; 64 (10): 104293. ( PubMed , DOI )

Takuto Tokuhiro, Akane Ishikawa, Haruka Sato, Shunya Takita, Ayuri Yoshikawa, Ryoko Anzai, Shinichi Sato, Ryohei Aoyagi, Makoto Arita, Yasuaki Aratani, Shigeomi Shimizu, Masato Tanaka, Satoshi Yotsumoto: Oxidized phospholipids and neutrophil elastase coordinately play critical roles in NET formation Frontiers in Cell and Developmental Biology. 2021.09; ( DOI )

Masakatsu Yanagimachi, Sayaka Fukuda, Fumiko Tanaka, Mari Iwamoto, Chiho Takao, Kunihiro Oba, Natsuko Suzuki, Koji Kiyohara, Dai Kuranobu, Norimasa Tada, Ayako Nagashima, Taku Ishii, Yoko Ino, Yayoi Kimura, Nobutoshi Nawa, Takeo Fujiwara, Takuya Naruto, Tomohiro Morio, Shouzaburo Doi, Masaaki Mori: Leucine-rich alpha-2-glycoprotein 1 and angiotensinogen as diagnostic biomarkers for Kawasaki disease. PLoS One. 2021.09; 16 (9): e0257138. ( PubMed , DOI )

Hiroshi Nihira, Kazushi Izawa, Moeko Ito, Hiroaki Umebayashi, Tsubasa Okano, Shunsuke Kajikawa, Etsuro Nanishi, Dai Keino, Kosaku Murakami, Masahiko Isa-Nishitani, Takeshi Shiba, Yoshitaka Honda, Atsushi Hijikata, Tadateru Yasu, Tomohiro Kubota, Yoshinori Hasegawa, Yusuke Kawashima, Naoko Nakano, Hidetoshi Takada, Shouichi Ohga, Toshio Heike, Junko Takita, Osamu Ohara, Syuji Takei, Makio Takahashi, Hirokazu Kanegane, Tomohiro Morio, Sachiko Iwaki-Egawa, Yoji Sasahara, Ryuta Nishikomori, Takahiro Yasumi: Detailed Analysis of Japanese Patients with Adenosine Deaminase 2 Deficiency Reveals Characteristic Elevation of Type II Interferon Signature and STAT1 Hyperactivation. J Allergy Clin Immunol. 2021.08; 148 (2): 550-562. ( PubMed , DOI )

Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt CE, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier JC, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Megarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya JM, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs C, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Coulibaly B, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Nussbaum RL, Ozcelik T, Keles S, Bousfiha AA, El Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY, Shcherbina A, Lau YL, Leung D, Coulongeat M, Marlet J, Koning R, Reyes LF, Chauvineau-Grenier A, Venet F, Monneret G, Nussenzweig MC, Arrestier R, Boudhabhay I, Baris-Feldman H, Hagin D, Wauters J, Meyts I, Dyer AH, Kennelly SP, Bourke NM, Halwani R, Sharif-Askari NS, Dorgham K, Sallette J, Sedkaoui SM, AlKhater S, Rigo-Bonnin R, Morandeira F, Roussel L, Vinh DC, Ostrowski SR, Condino-Neto A, Prando C, Bonradenko A, Spaan AN, Gilardin L, Fellay J, Lyonnet S, Bilguvar K, Lifton RP, Mane S; HGID Lab; COVID Clinicians; COVID-STORM Clinicians; NIAID Immune Response to COVID Group; NH-COVAIR Study Group; Danish CHGE; Danish Blood Donor Study; St. James's Hospital; SARS CoV2 Interest group; French COVID Cohort Study Group; Imagine COVID-Group; Milieu Intérieur Consortium; CoV-Contact Cohort; Amsterdam UMC Covid-19; Biobank Investigators; COVID Human Genetic Effort; CONSTANCES cohort; 3C-Dijon Study; Cerba Health-Care; Etablissement du Sang study group, Anderson MS, Boisson B, Béziat V, Zhang SY, Vandreakos E, Hermine O, Pujol A, Peterson P, Mogensen TH, Rowen L, Mond J, Debette S, de Lamballerie X, Duval X, Mentré F, Zins M, Soler-Palacin P, Colobran R, Gorochov G, Solanich X, Susen S, Martinez-Picado J, Raoult D, Vasse M, Gregersen PK, Piemonti L, Rodríguez-Gallego C, Notarangelo LD, Su HC, Kisand K, Okada S, Puel A, Jouanguy E, Rice CM, Tiberghien P, Zhang Q, Cobat A, Abel L, Casanova JL.: Autoantibodies neutralizing type I IFNs are present in ~ 4% of uninfected individuals over 70 years old and account for ~ 20% of COVID-19 deaths. Sci Immunol. 2021.08; 6 (62): ( PubMed , DOI )

Takaki Asano, Bertrand Boisson, Fanny Onodi, Daniela Matuozzo, Marcela Moncada-Velez, Majistor Raj Luxman Maglorius Renkilaraj, Peng Zhang, Laurent Meertens, Alexandre Bolze, Marie Materna, Sarantis Korniotis, Adrian Gervais, Estelle Talouarn, Benedetta Bigio, Yoann Seeleuthner, Kaya Bilguvar, Yu Zhang, Anna-Lena Neehus, Masato Ogishi, Simon J Pelham, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Pere Soler-Palacín, Roger Colobran, Andrea Martin-Nalda, Jacques G Rivière, Yacine Tandjaoui-Lambiotte, Khalil Chaïbi, Mohammad Shahrooei, Ilad Alavi Darazam, Nasrin Alipour Olyaei, Davood Mansouri, Nevin Hatipoğlu, Figen Palabiyik, Tayfun Ozcelik, Giuseppe Novelli, Antonio Novelli, Giorgio Casari, Alessandro Aiuti, Paola Carrera, Simone Bondesan, Federica Barzaghi, Patrizia Rovere-Querini, Cristina Tresoldi, Jose Luis Franco, Julian Rojas, Luis Felipe Reyes, Ingrid G Bustos, Andres Augusto Arias, Guillaume Morelle, Kyheng Christèle, Jesús Troya, Laura Planas-Serra, Agatha Schlüter, Marta Gut, Aurora Pujol, Luis M Allende, Carlos Rodriguez-Gallego, Carlos Flores, Oscar Cabrera-Marante, Daniel E Pleguezuelo, Rebeca Pérez de Diego, Sevgi Keles, Gokhan Aytekin, Ozge Metin Akcan, Yenan T Bryceson, Peter Bergman, Petter Brodin, Daniel Smole, C I Edvard Smith, Anna-Carin Norlin, Tessa M Campbell, Laura E Covill, Lennart Hammarström, Qiang Pan-Hammarström, Hassan Abolhassani, Shrikant Mane, Nico Marr, Manar Ata, Fatima Al Ali, Taushif Khan, András N Spaan, Clifton L Dalgard, Paolo Bonfanti, Andrea Biondi, Sarah Tubiana, Charles Burdet, Robert Nussbaum, Amanda Kahn-Kirby, Andrew L Snow, , , , , , , , , , Jacinta Bustamante, Anne Puel, Stéphanie Boisson-Dupuis, Shen-Ying Zhang, Vivien Béziat, Richard P Lifton, Paul Bastard, Luigi D Notarangelo, Laurent Abel, Helen C Su, Emmanuelle Jouanguy, Ali Amara, Vassili Soumelis, Aurélie Cobat, Qian Zhang, Jean-Laurent Casanova: X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 Sci Immunol. 2021.08; 6 (62): ( PubMed , DOI )

Akira Nishimura, Yuki Aoki, Yasuyoshi Ishiwata, Takuya Ichimura, Junichi Ueyama, Yuta Kawahara, Takahiro Tomoda, Maiko Inoue, Kazuaki Matsumoto, Kento Inoue, Haruka Hiroki, Shintaro Ono, Motoi Yamashita, Tsubasa Okano, Mari Tanaka-Kubota, Miho Ashiarai, Satoshi Miyamoto, Reiji Miyawaki, Chika Yamagishi, Mari Tezuka, Teppei Okawa, Akihiro Hoshino, Akifumi Endo, Masato Yasuhara, Takahiro Kamiya, Noriko Mitsuiki, Toshiaki Ono, Takeshi Isoda, Masakatsu Yanagimachi, Daisuke Tomizawa, Masayuki Nagasawa, Shuki Mizutani, Michiko Kajiwara, Masatoshi Takagi, Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio: Hematopoietic Cell Transplantation with Reduced Intensity Conditioning Using Fludarabine/Busulfan or Fludarabine/Melphalan for Primary Immunodeficiency Diseases. J Clin Immunol. 2021.07; 41 (5): 944-957. ( PubMed , DOI )

Yusuke Imanaka, Maki Taniguchi, Takehiko Doi, Miyuki Tsumura, Rie Nagaoka, Maiko Shimomura, Takaki Asano, Reiko Kagawa, Yoko Mizoguchi, Shuhei Karakawa, Koji Arihiro, Kohsuke Imai, Tomohiro Morio, Jean-Laurent Casanova, Anne Puel, Osamu Ohara, Katsuhiko Kamei, Masao Kobayashi, Satoshi Okada: Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings J Clin Immunol. 2021.07; 41 (5): 975-986. ( PubMed , DOI )

Motoi Yamashita, Tomohiro Morio: Inborn errors of IKAROS and AIOLOS Curr Opin Immunol. 2021.07; 72 239-248. ( PubMed , DOI )

Motoi Yamashita, Hye Sun Kuehn, Kazuki Okuyama, Satoshi Okada, Yuzaburo Inoue, Noriko Mitsuiki, Kohsuke Imai, Masatoshi Takagi, Hirokazu Kanegane, Masahiro Takeuchi, Naoki Shimojo, Miyuki Tsumura, Aditya K Padhi, Kam Y J Zhang, Bertrand Boisson, Jean-Laurent Casanova, Osamu Ohara, Sergio D Rosenzweig, Ichiro Taniuchi, Tomohiro Morio: A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS Nat Immunol. 2021.07; 22 (7): 893-903. ( PubMed , DOI )

Masaki Shimizu, Asami Shimbo, Masatoshi Takagi, Katsuhide Eguchi, Masataka Ishimura, Junichi Sugita, Tomohiro Morio, Hirokazu Kanegane: Successful treatment of joint and fascial chronic graft-versus-host disease with baricitinib. Rheumatology (Oxford). 2021.07; ( PubMed , DOI )

Akira Nishimura, Takuya Naruto, Satoshi Miyamoto, Andrew Grigg, Julian J Bosco, Akihiro Hoshino, Keishiro Amano, Shotaro Iwamoto, Masahiro Hirayama, Masahiro Migita, Osamu Ohara, Masatoshi Takagi, Tomohiro Morio, Menno C van Zelm, Hirokazu Kanegane: Genomics analysis of leukaemia predisposition in X-linked agammaglobulinaemia. Br J Haematol. 2021.06; 193 (6): 1277-1281. ( PubMed , DOI )

Tomohiro Morio, Kenji Gotoh, Tomoyuki Imagawa, Kimio Morita, Hidenori Ohnishi, Kozo Yasui, Jutta Hofmann, John Philip Lawo, Amgad Shebl, Mikhail A Rojavin: Safety and tolerability of IgPro10 in Japanese primary immunodeficiency patients: a registrational study. Int J Hematol. 2021.06; 113 (6): 921-929. ( PubMed , DOI )

Tamaki Kato, Yoshiteru Tamura, Hiroshi Matsumoto, Osamu Kobayashi, Hideaki Ishiguro, Masaya Ogawa, Koyo Tsujikawa, Yasuhiro Hasegawa, Mitsuhiro Sakamoto, Masaaki Konagaya, Hideki Houzen, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio, Akio Yokoseki, Osamu Onodera, Shigeaki Nonoyama: Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia. Clin Immunol. 2021.06; 108776. ( PubMed , DOI )

Thomas Magg, Tsubasa Okano, Lars M Koenig, Daniel F R Boehmer, Samantha L Schwartz, Kento Inoue, Jennifer Heimall, Francesco Licciardi, Julia Ley-Zaporozhan, Ronald M Ferdman, Andrés Caballero-Oteyza, Esther N Park, Brenda M Calderon, Debayan Dey, Hirokazu Kanegane, Kazutoshi Cho, Davide Montin, Karl Reiter, Matthias Griese, Michael H Albert, Meino Rohlfs, Paul Gray, Christoph Walz, Graeme L Conn, Kathleen E Sullivan, Christoph Klein, Tomohiro Morio, Fabian Hauck: gain-of-function variants cause an autoinflammatory immunodeficiency. Sci Immunol. 2021.06; 6 (60): ( PubMed , DOI )

Kei Takasawa, Yuichi Miyakawa, Yoko Saito, Eriko Adachi, Tsunanori Shidei, Akito Sutani, Maki Gau, Ryuichi Nakagawa, Atsuko Taki, Kenichi Kashimada, Tomohiro Morio: Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation. Clin Endocrinol (Oxf). 2021.06; 94 (6): 940-948. ( PubMed , DOI )

Masayuki Nagasawa, Noriko Mitsuiki, Masakatsu Yanagimachi, Masahide Yamamoto, Tetsuya Fukuda, Osamu Miura, Ryutaro Oba, Akira Igarashi, Kinya Nagata, Tomohiro Morio: Utility of novel T-cell-specific extracellular vesicles in monitoring and evaluation of acute GVHD. Int J Hematol. 2021.06; 113 (6): 910-920. ( PubMed , DOI )

Motoi Yamashita, Kento Inoue, Tsubasa Okano, Tomohiro Morio: Inborn errors of immunity-recent advances in research on the pathogenesis. Inflamm Regen. 2021.05; 41 (1): 9. ( PubMed , DOI )

Tanita K, Sakura F, Nambu R, Tsumura M, Imanaka Y, Ohnishi H, Kato Z, Pan J, Hoshino A, Suzuki K, Yasutomi M, Umetsu S, Okada C, Takagi M, Imai K, Ohara O, Muise AM, Okada S, Morio T, Kanegane H.: Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3 J Clin Immunol.. 2021.05; 41 (4): 780-790. ( PubMed )

Satoko Nakano, Yasuhiro Tomaru, Toshiaki Kubota, Hiroshi Takase, Manabu Mochizuki, Norio Shimizu, Sunao Sugita, : Multiplex Solid-Phase Real-Time Polymerase Chain Reaction without DNA Extraction: A Rapid Intraoperative Diagnosis Using Microvolumes. Ophthalmology. 2021.05; 128 (5): 729-739. ( PubMed , DOI )

Stuart G Tangye, Waleed Al-Herz, Aziz Bousfiha, Charlotte Cunningham-Rundles, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Eric Oksenhendler, Capucine Picard, Anne Puel, Jennifer Puck, Mikko R J Seppänen, Raz Somech, Helen C Su, Kathleen E Sullivan, Troy R Torgerson, Isabelle Meyts: The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee J Clin Immunol. 2021.04; 41 (3): 666-679. ( PubMed , DOI )

Keisuke Okamoto, Tomohiro Morio, Yoshikazu Nakamura, Hiroshi Hataya, Koichi Mizuta, Masaaki Mori: Hospitalisations due to respiratory syncytial virus infection in children with Down syndrome before and after palivizumab recommendation in Japan. Acta Paediatr. 2021.04; 110 (4): 1299-1306. ( PubMed , DOI )

Yoshimori M, Shibayama H, Imadome KI, Kawano F, Ohashi A, Nishio M, Shimizu N, Kurata M, Fujiwara S, Arai A: Antineoplastic and anti-inflammatory effects of bortezomib on systemic chronic active EBV infection. Blood advances. 2021.04; 5 (7): 1805-1815. ( PubMed , DOI )

Thomas J Weitering, Sanami Takada, Corry M R Weemaes, Pauline A van Schouwenburg, Mirjam van der Burg: ATM: Translating the DNA Damage Response to Adaptive Immunity. Trends in immunology. 2021.04; 42 (4): 350-365. ( PubMed , DOI )

Maki Gau, Kaoru Konishi, Kei Takasawa, Ryuichi Nakagawa, Atsumi Tsuji-Hosokawa, Atsuko Hashimoto, Akito Sutani, Toshihiro Tajima, Tomonobu Hasegawa, Tomohiro Morio, Kenichi Kashimada: The progression of salt-wasting and the body weight change during the first 2 weeks of life in classical 21-hydroxylase deficiency patients. Clin Endocrinol (Oxf). 2021.02; 94 (2): 229-236. ( PubMed , DOI )

Sato S, Noda S, Torii S, Amo T, Ikeda A, Funayama M, Yamaguchi J, Fukuda T, Kondo H, Tada N, Arakawa S, Watanabe M, Uchiyama Y, Shimizu S, Hattori N: Homeostatic p62 levels and inclusion body formation in CHCHD2 knockout mice. Human molecular genetics. 2021.02; 30 (6): 443-453. ( PubMed , DOI )

Daniel J Klionsky, etc.: Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition). Autophagy. 2021.02; 1-382. ( PubMed , DOI )

Aonuma Emi, Tamura Akiko, Matsuda Hiroki, Asakawa Takehito, Sakamaki Yuriko, Otsubo Kana, Nibe Yoichi, Onizawa Michio, Nemoto Yasuhiro, Nagaishi Takashi, Tsuchiya Kiichiro, Nakamura Tetsuya, Uo Motohiro, Watanabe Mamoru, Okamoto Ryuichi, Oshima Shigeru: Nickel ions attenuate autophagy flux and induce transglutaminase 2 (TG2) mediated post-translational modification of SQSTM1/p62 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 2021.02; 542 17-23. ( PubMed , DOI )

Miharu Yabe, Tomohiro Morio, Ken Tabuchi, Daisuke Tomizawa, Daiichiro Hasegawa, Hiroyuki Ishida, Nao Yoshida, Takashi Koike, Yoshiyuki Takahashi, Katsuyoshi Koh, Yasuhiro Okamoto, Hideki Sano, Keisuke Kato, Yoshinobu Kanda, Hiroaki Goto, Junko Takita, Takako Miyamura, Maiko Noguchi, Koji Kato, Yoshiko Hashii, Yoshiko Astuta, Hiromasa Yabe: Long-term outcome in patients with Fanconi anemia who received hematopoietic stem cell transplantation: a retrospective nationwide analysis Int. J. Hematol.. 2021.01; 113 (1): 134-144. ( PubMed , DOI )

Maiko Inoue, Takeshi Isoda, Motoi Yamashita, Takahiro Tomoda, Kento Inoue, Tsubasa Okano, Teppei Ohkawa, Akifumi Endo, Noriko Mitsuiki, Takahiro Kamiya, Masakatsu Yanagimachi, Kouhei Yamamoto, Yuichiro Inaba, Toru Sasaki, Masatoshi Takagi, Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio: Cytomegalovirus Laryngitis in Primary Combined Immunodeficiency Diseases. J Clin Immunol. 2021.01; 41 (1): 243-247. ( PubMed , DOI )

Joel Riquelme, Sanami Takada, Tessa van Dijk, Fernanda Peña, Merel W Boogaard, Hermine A van Duyvenvoorde, Ingrid Pico-Knijnenburg, Jan M Wit, Mirjam van der Burg, Veronica Mericq, Monique Losekoot: Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1. Hormone research in paediatrics. 2021; 94 (11-12): 448-455. ( PubMed , DOI )

Nozomi Matsuda, Kei Takasawa, Yasuhisa Ohata, Shigeru Takishima, Takuo Kubota, Yasuki Ishihara, Makoto Fujiwara, Erika Ogawa, Tomohiro Morio, Kenichi Kashimada, Keiichi Ozono: Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia Endocr. J.. 2020.12; 67 (12): 1227-1232. ( PubMed , DOI )

Mark R Garrelfs, Sanami Takada, Erik-Jan Kamsteeg, Sjoert Pegge, Grazia Mancini, Marc Engelen, Bart van de Warrenburg, Alexander Rennings, Judith van Gaalen, Ivo Peters, Corry Weemaes, Mirjam van der Burg, Michèl A Willemsen: The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort. Pediatric neurology. 2020.12; 113 26-32. ( PubMed , DOI )

Inoue K, Sasaki S, Yasumi T, Imai K, Kusunoki T, Morio T, Kanegane H: Helicobacter cinaedi-Associated Refractory Cellulitis in Patients with X-Linked Agammaglobulinemia J Clin Immunol. 2020.11; 40 (8): 1132-1137. ( PubMed , DOI )

Kazuaki Matsumoto, Akihiro Hoshino, Akira Nishimura, Tamaki Kato, Yoshio Mori, Masaki Shimomura, Chie Naito, Kenichiro Watanabe, Minoru Hamazaki, Noriko Mitsuiki, Masatoshi Takagi, Kohsuke Imai, Shigeaki Nonoyama, Hirokazu Kanegane, Tomohiro Morio: DNA Ligase IV Deficiency Identified by Chance Following Vaccine-Derived Rubella Virus Infection. J Clin Immunol. 2020.11; 40 (8): 1187-1190. ( PubMed , DOI )

Tzu-Wen Yeh, Tsubasa Okano, Takuya Naruto, Motoi Yamashita, Miko Okamura, Kay Tanita, Likun Du, Qiang Pan-Hammarström, Noriko Mitsuiki, Satoshi Okada, Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio: APRIL-dependent lifelong plasmacyte maintenance and immunoglobulin production in humans. J Allergy Clin Immunol. 2020.11; 146 (5): 1109-1120.e4. ( PubMed , DOI )

Satoru Torii, Shinya Honda, Michiko Murohashi, Hirofumi Yamaguchi, Shigeomi Shimizu: Autophagy involvement in oncogenesis. Cancer Science. 2020.11; 111 (11): 3993-3999. ( PubMed , DOI )

Torii Satoru, Honda Shinya, Murohashi Michiko, Yamaguchi Hirofumi, Shimizu Shigeomi: Autophagy involvement in oncogenesis(和訳中) Cancer Science. 2020.11; 111 (11): 3993-3999. ( ichushi )

Yamaguchi H, Honda S, Torii S, Shimizu K, Katoh K, Miyake K, Miyake N, Fujikake N, Sakurai HT, Arakawa S, Shimizu S: Wipi3 is essential for alternative autophagy and its loss causes neurodegeneration. Nature communications. 2020.10; 11 (1): 5311. ( PubMed , DOI )

Paul Bastard, Lindsey B Rosen, Qian Zhang, Eleftherios Michailidis, Hans-Heinrich Hoffmann, Yu Zhang, Karim Dorgham, Quentin Philippot, Jérémie Rosain, Vivien Béziat, Jérémy Manry, Elana Shaw, Liis Haljasmägi, Pärt Peterson, Lazaro Lorenzo, Lucy Bizien, Sophie Trouillet-Assant, Kerry Dobbs, Adriana Almeida de Jesus, Alexandre Belot, Anne Kallaste, Emilie Catherinot, Yacine Tandjaoui-Lambiotte, Jeremie Le Pen, Gaspard Kerner, Benedetta Bigio, Yoann Seeleuthner, Rui Yang, Alexandre Bolze, András N Spaan, Ottavia M Delmonte, Michael S Abers, Alessandro Aiuti, Giorgio Casari, Vito Lampasona, Lorenzo Piemonti, Fabio Ciceri, Kaya Bilguvar, Richard P Lifton, Marc Vasse, David M Smadja, Mélanie Migaud, Jérome Hadjadj, Benjamin Terrier, Darragh Duffy, Lluis Quintana-Murci, Diederik van de Beek, Lucie Roussel, Donald C Vinh, Stuart G Tangye, Filomeen Haerynck, David Dalmau, Javier Martinez-Picado, Petter Brodin, Michel C Nussenzweig, Stéphanie Boisson-Dupuis, Carlos Rodríguez-Gallego, Guillaume Vogt, Trine H Mogensen, Andrew J Oler, Jingwen Gu, Peter D Burbelo, Jeffrey I Cohen, Andrea Biondi, Laura Rachele Bettini, Mariella D'Angio, Paolo Bonfanti, Patrick Rossignol, Julien Mayaux, Frédéric Rieux-Laucat, Eystein S Husebye, Francesca Fusco, Matilde Valeria Ursini, Luisa Imberti, Alessandra Sottini, Simone Paghera, Eugenia Quiros-Roldan, Camillo Rossi, Riccardo Castagnoli, Daniela Montagna, Amelia Licari, Gian Luigi Marseglia, Xavier Duval, Jade Ghosn, , , , , , , , , , , John S Tsang, Raphaela Goldbach-Mansky, Kai Kisand, Michail S Lionakis, Anne Puel, Shen-Ying Zhang, Steven M Holland, Guy Gorochov, Emmanuelle Jouanguy, Charles M Rice, Aurélie Cobat, Luigi D Notarangelo, Laurent Abel, Helen C Su, Jean-Laurent Casanova: Autoantibodies against type I IFNs in patients with life-threatening COVID-19 Science. 2020.10; 370 (6515): ( PubMed , DOI )

Qian Zhang, Paul Bastard, Zhiyong Liu, Jérémie Le Pen, Marcela Moncada-Velez, Jie Chen, Masato Ogishi, Ira K D Sabli, Stephanie Hodeib, Cecilia Korol, Jérémie Rosain, Kaya Bilguvar, Junqiang Ye, Alexandre Bolze, Benedetta Bigio, Rui Yang, Andrés Augusto Arias, Qinhua Zhou, Yu Zhang, Fanny Onodi, Sarantis Korniotis, Léa Karpf, Quentin Philippot, Marwa Chbihi, Lucie Bonnet-Madin, Karim Dorgham, Nikaïa Smith, William M Schneider, Brandon S Razooky, Hans-Heinrich Hoffmann, Eleftherios Michailidis, Leen Moens, Ji Eun Han, Lazaro Lorenzo, Lucy Bizien, Philip Meade, Anna-Lena Neehus, Aileen Camille Ugurbil, Aurélien Corneau, Gaspard Kerner, Peng Zhang, Franck Rapaport, Yoann Seeleuthner, Jeremy Manry, Cecile Masson, Yohann Schmitt, Agatha Schlüter, Tom Le Voyer, Taushif Khan, Juan Li, Jacques Fellay, Lucie Roussel, Mohammad Shahrooei, Mohammed F Alosaimi, Davood Mansouri, Haya Al-Saud, Fahd Al-Mulla, Feras Almourfi, Saleh Zaid Al-Muhsen, Fahad Alsohime, Saeed Al Turki, Rana Hasanato, Diederik van de Beek, Andrea Biondi, Laura Rachele Bettini, Mariella D'Angio', Paolo Bonfanti, Luisa Imberti, Alessandra Sottini, Simone Paghera, Eugenia Quiros-Roldan, Camillo Rossi, Andrew J Oler, Miranda F Tompkins, Camille Alba, Isabelle Vandernoot, Jean-Christophe Goffard, Guillaume Smits, Isabelle Migeotte, Filomeen Haerynck, Pere Soler-Palacin, Andrea Martin-Nalda, Roger Colobran, Pierre-Emmanuel Morange, Sevgi Keles, Fatma Çölkesen, Tayfun Ozcelik, Kadriye Kart Yasar, Sevtap Senoglu, Şemsi Nur Karabela, Carlos Rodríguez-Gallego, Giuseppe Novelli, Sami Hraiech, Yacine Tandjaoui-Lambiotte, Xavier Duval, Cédric Laouénan, , , , , , , , , Andrew L Snow, Clifton L Dalgard, Joshua D Milner, Donald C Vinh, Trine H Mogensen, Nico Marr, András N Spaan, Bertrand Boisson, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Anne Puel, Michael J Ciancanelli, Isabelle Meyts, Tom Maniatis, Vassili Soumelis, Ali Amara, Michel Nussenzweig, Adolfo García-Sastre, Florian Krammer, Aurora Pujol, Darragh Duffy, Richard P Lifton, Shen-Ying Zhang, Guy Gorochov, Vivien Béziat, Emmanuelle Jouanguy, Vanessa Sancho-Shimizu, Charles M Rice, Laurent Abel, Luigi D Notarangelo, Aurélie Cobat, Helen C Su, Jean-Laurent Casanova: Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 Science. 2020.10; 370 (6515): ( PubMed , DOI )

Takeru Yamauchi, Masatoshi Imamura, Kei Takasawa, Keisuke Nakajima, Ryuichi Nakagawa, Maki Gau, Manabu Sugie, Atsuko Taki, Masahiko Kawai, Kenichi Kashimada, Tomohiro Morio: Prematurity at less than 24 weeks of gestation is a risk for prolonged hyperglycemia in extremely low-birth weight infants Endocrine. 2020.10; 70 (1): 71-77. ( PubMed , DOI )

Sanami Takada, Megumu K Saito, Naotomo Kambe: Blau Syndrome: NOD2-related systemic autoinflammatory granulomatosis. Giornale italiano di dermatologia e venereologia . 2020.10; 155 (5): 537-541. ( PubMed , DOI )

Tomoya Kaneda, Eriko Tanaka, Yuko Akutsu, Toru Kanamori, Mariko Mouri, Tomohiro Morio, Masaaki Mori: Refractory secondary thrombotic microangiopathy with kidney injury associated with systemic lupus erythematosus in a pediatric patient CEN Case Rep. 2020.09; 9 (4): 301-307. ( PubMed , DOI )

Sonoko Sakata, Miyuki Tsumura, Tadashi Matsubayashi, Shuhei Karakawa, Shunsuke Kimura, Moe Tamaura, Tsubasa Okano, Takuya Naruto, Yoko Mizoguchi, Reiko Kagawa, Shiho Nishimura, Kohsuke Imai, Tom Le Voyer, Jean-Laurent Casanova, Jacinta Bustamante, Tomohiro Morio, Osamu Ohara, Masao Kobayashi, Satoshi Okada: Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations Int Immunol.. 2020.09; 32 (10): 663-671. ( PubMed , DOI )

Ida H, Maruyama D, Maeshima AM, Kamiya T, Morio T, Izutsu K: Duodenal nodular lymphoid hyperplasia in a patient with IgA deficiency Clin Case Rep. 2020.09; 8 (12): 3594-3595. ( PubMed , DOI )

Futaba Miyaoka, Etsushi Toyofuku, Takeshi Isoda, Tomohiro Moiro, Hirokazu Kanegane: Influenza-induced hemolytic crisis in glucose-6-phosphate dehydrogenase deficiency. Pediatr Int. 2020.08; 62 (8): 1003-1004. ( PubMed , DOI )

Mitsuru Mizuno, Kentaro Endo, Hisako Katano, Ayako Tsuji, Naomi Kojima, Ken Watanabe, Norio Shimizu, Tomohiro Morio, Ichiro Sekiya: The environmental risk assessment of cell-processing facilities for cell therapy in a Japanese academic institution. PLoS ONE. 2020.08; 15 (8): e0236600. ( PubMed , DOI )

Hirofumi Yamaguchi, Shinya Honda, Satoru Torii, Kimiko Shimizu, Kaoru Kato, Koichi Miyake, Noriko Miyake, Nobuhiro Fujikake, Hajime Tajima Sakurai, Satoko Arakawa, Shigeomi Shimizu: Wipi3 is essential for alternative autophagy and its loss causes neurodegeneration Nature Communications. 2020.08; press

Angela Helfricht, Peter E. Thijssen, Magdalena B. Rother, Rashmi G. Shah, Likun Du, Sanami Takada, Mélanie Rogier, Jacques Moritz, Hanna IJspeert, Chantal Stoepker, Monique M. van Ostaijen-ten Dam, Vincent Heyer, Martijn S. Luijsterburg, Anton de Groot, Rianca Jak, Gwendolynn Grootaers, Jun Wang, Pooja Rao, Alfred C.O. Vertegaal, Maarten J.D. van Tol, Qiang Pan-Hammarström, Bernardo Reina-San-Martin, Girish M. Shah, Mirjam van der Burg, Silvère M. van der Maarel, Haico van Attikum: Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome Journal of Experimental Medicine. 2020.08; 217 (11): ( DOI )

Tsubasa Okano, Kohsuke Imai, Takuya Naruto, Satoshi Okada, Motoi Yamashita, Tzu-Wen Yeh, Shintaro Ono, Keisuke Tanaka, Keisuke Okamoto, Kay Tanita, Kazuaki Matsumoto, Etsushi Toyofuku, Eri Kumaki-Matsumoto, Miko Okamura, Hiroo Ueno, Seishi Ogawa, Osamu Ohara, Masatoshi Takagi, Hirokazu Kanegane, Tomohiro Morio: Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity. The Journal of Clinical Immunology . 2020.07; 40 ((5)): 729-740. ( PubMed , DOI )

Yuumi Nakamura, Hiroki Takahashi, Akiko Takaya, Yuzaburo Inoue, Yuki Katayama, Yoko Kusuya, Tatsuma Shoji, Sanami Takada, Seitaro Nakagawa, Rena Oguma, Nobuko Saito, Naoko Ozawa, Taiji Nakano, Fumiya Yamaide, Eishika Dissanayake, Shuichi Suzuki, Amer Villaruz, Saranyaraajan Varadarajan, Masanori Matsumoto, Tomoko Kobayashi, Michihiro Kono, Yasunori Sato, Masashi Akiyama, Michael Otto, Hiroyuki Matsue, Gabriel Núñez, Naoki Shimojo: Staphylococcus Agr virulence is critical for epidermal colonization and associates with atopic dermatitis development Science Translational Medicine. 2020.07; 12 (551): ( DOI )

Masakatsu Yanagimachi, Koji Kato, Akihiro Iguchi, Koji Sasaki, Chikako Kiyotani, Katsuyoshi Koh, Takashi Koike, Hideki Sano, Tomonari Shigemura, Hideki Muramatsu, Keiko Okada, Masami Inoue, Ken Tabuchi, Toyoki Nishimura, Tomoyuki Mizukami, Hiroyuki Nunoi, Kohsuke Imai, Masao Kobayashi, Tomohiro Morio: Hematopoietic Cell Transplantation for Chronic Granulomatous Disease in Japan Front Immunol. 2020.07; 11 1617. ( PubMed , DOI )

Masumi Saito, Yumi Makino, Kumi Inoue, Yoshino Watanabe, Osamu Hoshi, Tetsuo Kubota: Anti-DNA antibodies cross-reactive with β2-glycoprotein I induce monocyte tissue factor through the TLR9 pathway. Immunol Med. 2020.07; 44 (2): 1-12. ( PubMed , DOI )

Jean-Laurent Casanova, Helen C Su, : A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection. Cell. 2020.06; 181 (6): 1194-1199. ( PubMed , DOI )

Katsutsugu Umeda, Kohsuke Imai, Masakatsu Yanagimachi, Hiromasa Yabe, Masao Kobayashi, Yoshiyuki Takahashi, Michiko Kajiwara, Nao Yoshida, Yuko Cho, Masami Inoue, Yoshiko Hashii, Yoshiko Atsuta, Tomohiro Morio: Impact of graft-versus-host disease on the clinical outcome of allogeneic hematopoietic stem cell transplantation for non-malignant diseases. Int J Hematol. 2020.06; 111 (6): 869-876. ( PubMed , DOI )

Satoru Torii, Shigeomi Shimizu: Involvement of phosphorylation of ULK1 in alternative autophagy Autophagy. 2020.06; 16 (8): 1532-1533. ( PubMed , DOI )

Yasueda Asuka, Kayama Hisako, Murohashi Michiko, Nishimura Junichi, Wakame Koji, Komatsu Ken-ichi, Ogino Takayuki, Miyoshi Norikatsu, Takahashi Hidekazu, Uemura Mamoru, Matsuda Chu, Kitagawa Toru, Takeda Kiyoshi, Ito Toshinori, Doki Yuichiro, Eguchi Hidetoshi, Shimizu Shigeomi, Mizushima Tsunekazu: Sanguisorba officinalis L. derived from herbal medicine prevents intestinal inflammation by inducing autophagy in macrophages SCIENTIFIC REPORTS. 2020.06; 10 (1): ( DOI )

Hiroshi Ureshino, Shuichi Koarada, Kazuharu Kamachi, Mariko Yoshimura, Masako Yokoo, Yasushi Kubota, Toshihiko Ando, Tatsuo Ichinohe, Tomohiro Morio, Shinya Kimura: Immune dysregulation syndrome with de novo CTLA4 germline mutation responsive to abatacept therapy. Int J Hematol. 2020.06; 111 (6): 897-902. ( PubMed , DOI )

Inoue K, Miura H, Hoshino A, Kamiya T, Tanita K, Ohye T, Park MJ, Yanagimachi M, Takagi M, Imai K, Morio T, Yoshikawa T, Kanegane H: Inherited chromosomally integrated human herpesvirus-6 in a patient with XIAP deficiency. Transpl Infect Dis. 2020.05; e13331. ( PubMed , DOI )

Hiroshi Yoshino, Yohei Nishiyama, Hiroshi Kamma, Tomohiro Chiba, Masachika Fujiwara, Takehiro Karaho, Yasunao Kogashiwa, Tomohiro Morio, Kunimasa Yan, Fumio Bessho, Masatoshi Takagi: Functional characterization of a germline ETV6 variant associated with inherited thrombocytopenia, acute lymphoblastic leukemia, and salivary gland carcinoma in childhood. Int J Hematol.. 2020.05; 112 (2): 217-222. ( PubMed , DOI )

Akihiro Hoshino, Akira Nishimura, Takuya Naruto, Tsubasa Okano, Kazuaki Matsumoto, Keisuke Okamoto, Hiroshi Shintaku, Shown Tokoro, Hiroyuki Okamoto, Taizo Wada, Masatoshi Takagi, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio: High-throughput analysis revealed the unique immunoglobulin gene rearrangements in plasmacytoma-like post-transplant lymphoproliferative disorder. Br. J. Haematol.. 2020.05; 189 (4): e164-e168. ( PubMed , DOI )

Minako Mori, Asuka Hira, Kenichi Yoshida, Hideki Muramatsu, Yusuke Okuno, Yuichi Shiraishi, Michiko Anmae, Jun Yasuda, Shu Tadaka, Kengo Kinoshita, Tomoo Osumi, Yasushi Noguchi, Souichi Adachi, Ryoji Kobayashi, Hiroshi Kawabata, Kohsuke Imai, Tomohiro Morio, Kazuo Tamura, Akifumi Takaori-Kondo, Masayuki Yamamoto, Satoru Miyano, Seiji Kojima, Etsuro Ito, Seishi Ogawa, Keitaro Matsuo, Hiromasa Yabe, Miharu Yabe, Minoru Takata: Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients Haematologica. 2020.04; 105 (4): 1166-1167. ( PubMed , DOI )

Satoru Torii, Hirofumi Yamaguchi, Akira Nakanishi, Satoko Arakawa, Shinya Honda, Kenta Moriwaki, Hiroyasu Nakano, Shigeomi Shimizu: Identification of a phosphorylation site on Ulk1 required for genotoxic stress-induced alternative autophagy Nature Communications. 2020.04; 11 (1): 1754. ( PubMed , DOI )

Susumu Yamazaki, Asami Shimbo, Yuko Akutsu, Hiroshi Takase, Tomohiro Morio, Masaaki Mori: Importance of pediatric rheumatologists and transitional care for juvenile idiopathic arthritis-associated uveitis: a retrospective series of 9 cases Pediatr Rheumatol Online J. 2020.03; 18 (1): 26. ( PubMed , DOI )

Hironori Kato, Kohki Okabe, Masato Miyake, Kazuki Hattori, Tomohiro Fukaya, Kousuke Tanimoto, Shi Beini, Mariko Mizuguchi, Satoru Torii, Satoko Arakawa, Masaya Ono, Yusuke Saito, Takashi Sugiyama, Takashi Funatsu, Katsuaki Sato, Shigeomi Shimizu, Seiichi Oyadomari, Hidenori Ichijo, Hisae Kadowaki, Hideki Nishitoh: ER-resident sensor PERK is essential for mitochondrial thermogenesis in brown adipose tissue. Life Science Alliance. 2020.03; 3 (3): ( PubMed , DOI )

Hoshino Akihiro, Tokoro Shown, Akashi Takumi, Inoue Maiko, Takagi Masatoshi, Imai Kohsuke, Kanegane Hirokazu, Muraosa Yasunori, Kamei Katsuhiko, Morio Tomohiro: Disseminated fusariosis in a child after haploidentical hematopoietic stem cell transplantation. Pediatrics International. 2020.03; 62 (3): 419-420. ( ichushi )

Satoru Torii, Hirofumi Yamaguchi, Akira Nakanishi, Satoko Arakawa, Shinya Honda, Kenta Moriwaki, Hiroyasu Nakano, Shigeomi Shimizu : Identification of a phosphorylation site on Ulk1 required for genotoxic stress-induced alternative autophagy Nature Communications. 2020.03;

Satoru Torii, Shuya Kasai, Tatsushi Yoshida, Ken-Ichi Yasumoto, Shigeomi Shimizu: Mitochondrial E3 Ubiquitin Ligase Parkin: Relationships with Other Causal Proteins in Familial Parkinson's Disease and Its Substrate-Involved Mouse Experimental Models. International Journal of Molecular Sciences. 2020.02; 21 (4): ( PubMed , DOI )

Tomonori Suzuki, Kuniko Kohyama, Kengo Moriyama, Mariko Ozaki, Setsuko Hasegawa, Taro Ueno, Minoru Saitoe, Tomohiro Morio, Masaharu Hayashi, Hiroshi Sakuma: Extracellular ADP augments microglial inflammasome and NF-κB activation via the P2Y12 receptor. Eur. J. Immunol. 2020.02; 50 (2): 205-219. ( PubMed , DOI )

Takahiro Fukaishi, Isao Minami, Seizaburo Masuda, Yasutaka Miyachi, Kazutaka Tsujimoto, Hajime Izumiyama, Koshi Hashimoto, Masayuki Yoshida, Sayako Takahashi, Kenichi Kashimada, Tomohiro Morio, Kenjiro Kosaki, Yoshiro Maezawa, Koutaro Yokote, Takanobu Yoshimoto, Tetsuya Yamada: A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles. Endocr. J.. 2020.02; 67 (2): 211-218. ( PubMed , DOI )

K Inoue, M Ishizawa, T Kubota: Monoclonal anti-dsDNA antibody 2C10 escorts DNA to intracellular DNA sensors in normal mononuclear cells and stimulates secretion of multiple cytokines implicated in lupus pathogenesis. Clin Exp Immunol. 2020.02; 199 (2): 150-162. ( PubMed , DOI )

Akito Sutani, Hirohito Shima, Atsushi Hijikata, Susumu Hosokawa, Yuko Fukui, Kei Takasawa, Erina Suzuki, Shozaburou Doi, Tsuyoshi Shirai, Tomohiro Morio, Maki Fukami, Kenichi Kashimada: WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome. Eur J Med Genet. 2020.01; 63 (1): 103626. ( PubMed , DOI )

Aziz Bousfiha, Leila Jeddane, Capucine Picard, Waleed Al-Herz, Fatima Ailal, Talal Chatila, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Jennifer Puck, Troy R Torgerson, Jean-Laurent Casanova, Kathleen E Sullivan, Stuart G Tangye: Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. J Clin Immunol. 2020.01; 40 (1): 66-81. ( PubMed , DOI )

Stuart G Tangye, Waleed Al-Herz, Aziz Bousfiha, Talal Chatila, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Capucine Picard, Jennifer Puck, Troy R Torgerson, Jean-Laurent Casanova, Kathleen E Sullivan: Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020.01; 40 (1): 65. ( PubMed , DOI )

Kana Otsubo, Chiaki Maeyashiki, Yoichi Nibe, Akiko Tamura, Emi Aonuma, Hiroki Matsuda, Masanori Kobayashi, Michio Onizawa, Yasuhiro Nemoto, Takashi Nagaishi, Ryuichi Okamoto, Kiichiro Tsuchiya, Tetsuya Nakamura, Satoru Torii, Eisuke Itakura, Mamoru Watanabe, Shigeru Oshima: Receptor-Interacting Protein Kinase 3 (RIPK3) inhibits autophagic flux during necroptosis in intestinal epithelial cells. FEBS Letters. 2020.01; 594 (10): 1586-1595. ( PubMed , DOI )

Shinya Honda, Satoko Arakawa, Hirofumi Yamaguchi, Satoru Torii, Hajime Tajima Sakurai, Masatsune Tsujioka, Michiko Murohashi, Shigeomi Shimizu: Association Between Atg5-independent Alternative Autophagy and Neurodegenerative Diseases. Journal of Molecular Biology. 2020.01; 432 (8): 2622-2632. ( PubMed , DOI )

Stuart G Tangye, Waleed Al-Herz, Aziz Bousfiha, Talal Chatila, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Capucine Picard, Jennifer Puck, Troy R Torgerson, Jean-Laurent Casanova, Kathleen E Sullivan: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020.01; 40 (1): 24-64. ( PubMed , DOI )

Tomohiro Morio, Gautam Baheti, Michael A Tortorici, Jutta Hofmann, Mikhail A Rojavin: Pharmacokinetic properties of Privigen® in Japanese patients with primary immunodeficiency. Immunol Med. 2019.12; 42 (4): 162-168. ( PubMed , DOI )

Kato Y, Arakawa S, Terasawa K, Inokuchi JI, Iwata T, Shimizu S, Watabe T, Hara-Yokoyama M: The ceramide analogue N-(1-hydroxy-3-morpholino-1-phenylpropan-2-yl)decanamide induces large lipid droplet accumulation and highlights the effect of LAMP-2 deficiency on lipid droplet degradation. Bioorganic & medicinal chemistry letters. 2019.12; 30 (3): 126891. ( PubMed , DOI )

Takeru Yamauchi, Kei Takasawa, Takahiro Kamiya, Shizuka Kirino, Maki Gau, Kento Inoue, Akihiro Hoshino, Kenichi Kashimada, Hirokazu Kanegane, Tomohiro Morio: Hematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome. Pediatr Diabetes. 2019.11; 20 (7): 1035-1040. ( PubMed , DOI )

Setsuko Hasegawa, Satoko Kumada, Naoyuki Tanuma, Atsumi Tsuji-Hosokawa, Ayako Kashimada, Tomoko Mizuno, Kengo Moriyama, Yuji Sugawara, Ikuko Shirai, Yohane Miyata, Hiroya Nishida, Hideaki Mashimo, Takeshi Hasegawa, Takatoshi Hosokawa, Hiroaki Hisakawa, Mitsugu Uematsu, Akio Fujine, Rie Miyata, Hiroshi Sakuma, Kenichi Kashimada, Kohsuke Imai, Tomohiro Morio, Masaharu Hayashi, Shuki Mizutani, Masatoshi Takagi: Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia. Pediatr Neurol. 2019.11; 100 60-66. ( PubMed , DOI )

Minako Mori, Asuka Hira, Kenichi Yoshida, Hideki Muramatsu, Yusuke Okuno, Yuichi Shiraishi, Michiko Anmae, Jun Yasuda, Shu Tadaka, Kengo Kinoshita, Tomoo Osumi, Yasushi Noguchi, Souichi Adachi, Ryoji Kobayashi, Hiroshi Kawabata, Kohsuke Imai, Tomohiro Morio, Kazuo Tamura, Akifumi Takaori-Kondo, Masayuki Yamamoto, Satoru Miyano, Seiji Kojima, Etsuro Ito, Seishi Ogawa, Keitaro Matsuo, Hiromasa Yabe, Miharu Yabe, Minoru Takata: Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients. Haematologica. 2019.10; 104 (10): 1962-1973. ( PubMed , DOI )

Maeda Y, Takasawa K, Ishii T, Nagashima A, Mouri M, Kunieda J, Morisaki H, Ito T, Mori M, Kashimada K, Doi S, Morio T: A Nonsense SMAD3 Mutation in a Girl with Familial Thoracic Aortic Aneurysm and Dissection without Joint Abnormality. Cardiology. 2019.10; 144 (1-2): 53-59. ( PubMed , DOI )

Sutani A, Miyakawa Y, Tsuji-Hosokawa A, Nomura R, Nakagawa R, Nakajima K, Maru M, Aoki Y, Takasawa K, Takagi M, Imai K, Kashimada K, Morio T: Gonadal failure among female patients after hematopoietic stem cell transplantation for non-malignant diseases. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. 2019.10; 28 (4): 105-112. ( PubMed , DOI )

Makiko Egawa, Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio, Naoyuki Miyasaka: Intravenous immunoglobulin (IVIG) efficiency in women with common variable immunodeficiency (CVID) decreases significantly during pregnancy. J. Matern. Fetal. Neonatal. Med.. 2019.09; 32 (18): 3092-3096. ( PubMed , DOI )

清水 重臣, 山口 啓史, 桜井 一, 荒川 聡子: ゴルジ体の機能と構造(Molecular mechanisms and physiological roles of alternative autophagy) 日本生化学会大会プログラム・講演要旨集. 2019.09; 92回 [3S12m-05]. ( ichushi )

Akihiro Iguchi, Yuko Cho, Hiromasa Yabe, Shunichi Kato, Koji Kato, Junichi Hara, Katsuyoshi Koh, Junko Takita, Takashi Ishihara, Masami Inoue, Kohsuke Imai, Hideki Nakayama, Yoshiko Hashii, Akira Morimoto, Yoshiko Atsuta, Tomohiro Morio, : Long-term outcome and chimerism in patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation: a retrospective nationwide survey. Int. J. Hematol.. 2019.09; 110 (3): 364-369. ( PubMed , DOI )

Takeshi Isoda, Tomohiro Morio, Masatoshi Takagi: Noncoding RNA transcription at enhancers and genome folding in cancer. Cancer Sci. 2019.08; 110 (8): 2328-2336. ( PubMed , DOI )

Katsutsugu Umeda, Hiromasa Yabe, Koji Kato, Kohsuke Imai, Masao Kobayashi, Yoshiyuki Takahashi, Nao Yoshida, Maho Sato, Yoji Sasahara, Keisuke Kato, Souichi Adachi, Yuhki Koga, Keiko Okada, Masami Inoue, Yoshiko Hashii, Yoshiko Atsuta, Tomohiro Morio, : Impact of low-dose irradiation and in vivo T-cell depletion on hematopoietic stem cell transplantation for non-malignant diseases using fludarabine-based reduced-intensity conditioning. Bone Marrow Transplant.. 2019.08; 54 (8): 1227-1236. ( PubMed , DOI )

Koushiro Fujimoto, Masahito Tanaka, A Y K Md Masud Rana, Md Golam Sarowar Jahan, Go Itoh, Masatsune Tsujioka, Taro Q P Uyeda, Shin-Ya Miyagishima, Shigehiko Yumura: Contributes to Cytokinesis Cooperatively with Other Dynamins. Cells. 2019.07; 8 (8): ( PubMed , DOI )

Takashi Okumura, Yumi Horie, Chen-Yi Lai, Huan-Ting Lin, Hirofumi Shoda, Bunki Natsumoto, Keishi Fujio, Eri Kumaki, Tsubasa Okano, Shintaro Ono, Kay Tanita, Tomohiro Morio, Hirokazu Kanegane, Hisanori Hasegawa, Fumitaka Mizoguchi, Kimito Kawahata, Hitoshi Kohsaka, Hiroshi Moritake, Hiroyuki Nunoi, Hironori Waki, Shin-Ichi Tamaru, Takayoshi Sasako, Toshimasa Yamauchi, Takashi Kadowaki, Hiroyuki Tanaka, Sachiko Kitanaka, Ken Nishimura, Manami Ohtaka, Mahito Nakanishi, Makoto Otsu: Robust and highly efficient hiPSC generation from patient non-mobilized peripheral blood-derived CD34+ cells using the auto-erasable Sendai virus vector. Stem Cell Res Ther. 2019.06; 10 (1): 185. ( PubMed , DOI )

Hoshino A, Kanegane H, Nishi M, Tsuge I, Tokuda K, Kobayashi I, Imai K, Morio T, Takagi M: Identification of autoantibodies using human proteome microarrays in patients with IPEX syndrome. Clin. Immunol.. 2019.06; 203 9-13. ( PubMed , DOI )

H Sasaki, A Takamura, K Kawahata, T Takashima, K Imai, T Morio, H Kohsaka: Peripheral blood lymphocyte subset repertoires are biased and reflect clinical features in patients with dermatomyositis. Scand J Rheumatol. 2019.05; 48 (3): 225-229. ( PubMed , DOI )

Motoi Yamashita, Ryosuke Wakatsuki, Tamaki Kato, Tsubasa Okano, Shingo Yamanishi, Nobuko Mayumi, Mayuri Tanaka, Yumi Ogura, Hirokazu Kanegane, Shigeaki Nonoyama, Kohsuke Imai, Tomohiro Morio: A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency. Int. J. Hematol.. 2019.05; 109 (5): 603-611. ( PubMed , DOI )

Eri Kumaki, Keisuke Tanaka, Kohsuke Imai, Yuki Aoki-Nogami, Akira Ishiguro, Satoshi Okada, Hirokazu Kanegane, Fumihiko Ishikawa, Tomohiro Morio: Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency. Int J Hematol. 2019.04; 109 (4): 382-389. ( PubMed , DOI )

Risa Nomura, Kenichi Kashimada, Hitomi Suzuki, Liang Zhao, Atsumi Tsuji-Hosokawa, Hideo Yagita, Masatoshi Takagi, Yoshiakira Kanai, Josephine Bowles, Peter Koopman, Masami Kanai-Azuma, Tomohiro Morio: Nr5a1 suppression during the murine fetal period optimizes ovarian development by fine-tuning Notch signaling. J. Cell. Sci.. 2019.04; 132 (8): ( PubMed , DOI )

Zeinab A El-Sayed, Irina Abramova, Juan Carlos Aldave, Waleed Al-Herz, Liliana Bezrodnik, Rachida Boukari, Ahmed Aziz Bousfiha, Caterina Cancrini, Antonio Condino-Neto, Ghassan Dbaibo, Beata Derfalvi, Figen Dogu, J David M Edgar, Brian Eley, Rasha Hasan El-Owaidy, Sara Elva Espinosa-Padilla, Nermeen Galal, Filomeen Haerynck, Rima Hanna-Wakim, Elham Hossny, Aydan Ikinciogullari, Ebtihal Kamal, Hirokazu Kanegane, Nadia Kechout, Yu Lung Lau, Tomohiro Morio, Viviana Moschese, Joao Farela Neves, Monia Ouederni, Roberto Paganelli, Kenneth Paris, Claudio Pignata, Alessandro Plebani, Farah Naz Qamar, Sonia Qureshi, Nita Radhakrishnan, Nima Rezaei, Nelson Rosario, John Routes, Berta Sanchez, Anna Sediva, Mikko Rj Seppanen, Edith Gonzalez Serrano, Anna Shcherbina, Surjit Singh, Sangeetha Siniah, Guiseppe Spadaro, Mimi Tang, Ana Maria Vinet, Alla Volokha, Kathleen E Sullivan: X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world. World Allergy Organ J. 2019.03; 12 (3): 100018. ( PubMed , DOI )

Kay Tanita, Akihiro Hoshino, Ken-Ichi Imadome, Takahiro Kamiya, Kento Inoue, Tsubasa Okano, Tzu-Wen Yeh, Masakatsu Yanagimachi, Akira Shiraishi, Masataka Ishimura, Tilmann Schober, Meino Rohlfs, Masatoshi Takagi, Kohsuke Imai, Hidetoshi Takada, Shouichi Ohga, Christoph Klein, Tomohiro Morio, Hirokazu Kanegane: Epstein-Barr Virus-Associated γδ T-Cell Lymphoproliferative Disorder Associated With Hypomorphic IL2RG Mutation. Front Pediatr. 2019.02; 7 15. ( PubMed , DOI )

S Virachith, M Saito, Y Watanabe, K Inoue, O Hoshi, T Kubota: Anti-β#D2#DR -glycoprotein I antibody with DNA binding activity enters living monocytes via cell surface DNA and induces tissue factor expression. Clin. Exp. Immunol.. 2019.02; 195 (2): 167-178. ( PubMed , DOI )

Nagatsuma Misako, Takasawa Kei, Yamauchi Takeru, Nakagawa Ryuichi, Mizuno Tomoko, Tanaka Eriko, Yamamoto Kouhei, Uemura Noriko, Kashimada Kenichi, Morio Tomohiro: 脂肪腫症、腎血管性高血圧および糖尿病を呈するSchimmelpenning症候群患者における接合後のKRAS変異(A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus) Journal of Human Genetics. 2019.02; 64 (2): 177-181. ( ichushi )

Ayako Kashimada, Setsuko Hasegawa, Toshihiro Nomura, Hiroshi Shiraku, Kengo Moriyama, Tomonori Suzuki, Keisuke Nakajima, Tomoko Mizuno, Kohsuke Imai, Yuji Sugawara, Tomohiro Morio, Satoko Kumada, Masatoshi Takagi: Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders. Brain Dev. 2019.02; 41 (2): 150-157. ( PubMed , DOI )

Muraoka Naoto, Nara Kaori, Tamura Fumiya, Kojima Hidenori, Yamakawa Hiroyuki, Sadahiro Taketaro, Miyamoto Kazutaka, Isomi Mari, Haginiwa Sho, Tani Hidenori, Kurotsu Shota, Osakabe Rina, Torii Satoru, Shimizu Shigeomi, Okano Hideyuki, Sugimoto Yukihiko, Fukuda Keiichi, Ieda Masaki: Role of cyclooxygenase-2-mediated prostaglandin E2-prostaglandin E receptor 4 signaling in cardiac reprogramming NATURE COMMUNICATIONS. 2019.02; 10 ( DOI )

Shigeomi Shimizu: Organelle zones in mitochondria. J. Biochem.. 2019.02; 165 (2): 101-107. ( PubMed , DOI )

Okano T, Imai K, Tsujita Y, Mitsuiki N, Yoshida K, Kamae C, Honma K, Mitsui-Sekinaka K, Sekinaka Y, Kato T, Hanabusa K, Endo E, Takashima T, Hiroki H, Yeh TW, Tanaka K, Nagahori M, Tsuge I, Bando Y, Iwasaki F, Shikama Y, Inoue M, Kimoto T, Moriguchi N, Yuza Y, Kaneko T, Suzuki K, Matsubara T, Maruo Y, Kunitsu T, Waragai T, Sano H, Hashimoto Y, Tasaki K, Suzuki O, Shirakawa T, Kato M, Uchiyama T, Ishimura M, Tauchi T, Yagasaki H, Jou ST, Yu HH, Kanegane H, Kracker S, Durandy A, Kojima D, Muramatsu H, Wada T, Inoue Y, Takada H, Kojima S, Ogawa S, Ohara O, Nonoyama S, Morio T.: Hematopoietic Stem Cell Transplantation for Progressive Combined Immunodeficiency and Lymphoproliferation in Activated PI3K Syndrome Type 1. J. Allergy Clin. Immunol.. 2019.01; 143 (1): 266-275. ( PubMed , DOI )

Mari Kubota-Tanaka, Tomoo Osumi, Shouko Miura, Hiroshi Tsujimoto, Toshihiko Imamura, Akira Nishimura, Kentaro Oki, Kozue Nakamura, Satoshi Miyamoto, Kento Inoue, Maiko Inoue, Takahiro Kamiya, Masakatsu Yanagimachi, Tsubasa Okano, Noriko Mitsuiki, Takeshi Isoda, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Shinji Kounami, Mikiya Endo, Motohiro Kato, Masatoshi Takagi: B-lymphoblastic lymphoma with the TCF3-PBX1 fusion gene. Haematologica. 2019.01; 104 (1): 35-37. ( PubMed , DOI )

Kei Takasawa, Atsumi Tsuji-Hosokawa, Shigeru Takishima, Yasunori Wada, Keisuke Nagasaki, Sumito Dateki, Chikahiko Numakura, Atsushi Hijikata, Tsuyoshi Shirai, Kenichi Kashimada, Tomohiro Morio: Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the β-subunit of the insulin receptor (INSR) gene. J Diabetes. 2019.01; 11 (1): 46-54. ( PubMed , DOI )

Keiichi Iwanami, Tsubasa Okano, Osamu Ohara, Tomohiro Morio: Recurrent Acute Abdomen as the Main Manifestation of Hereditary Angioedema. Intern Med. 2019.01; 58 (2): 213-216. ( PubMed , DOI )

Noguchi Saori, Honda Shinya, Saitoh Tatsuya, Matsumura Hiroyuki, Nishimura Emi, Akira Shizuo, Shimizu Shigeomi: Beclin 1 regulates recycling endosome and is required for skin development in mice COMMUNICATIONS BIOLOGY. 2019.01; 2 ( DOI )

Sugimoto Y, Murohashi M, Arakawa S, Honda S, Shimizu S: Prediction of intracellular targets of a small compound by analyzing peptides presented on MHC class I. Biochemical and biophysical research communications. 2019.01; 508 (2): 480-486. ( PubMed , DOI )

Egawa M, Imai K, Taketani Y, Morio T, Miyasaka N.: Two Prenatal Cases of Hyper-IgE Syndrome. J. Clin. Immunol.. 2019.01; ( PubMed , DOI )

Masatsune Tsujioka, Taro Q P Uyeda, Yoshiaki Iwadate, Hitesh Patel, Keitaro Shibata, Tenji Yumoto, Shigenobu Yonemura: Actin-binding domains mediate the distinct distribution of two Dictyostelium Talins through different affinities to specific subsets of actin filaments during directed cell migration. PLoS ONE. 2019; 14 (4): e0214736. ( PubMed , DOI )

Noguchi S, Honda S, Saitoh T, Matsumura H, Nishimura E, Akira S, Shimizu S: Beclin 1 regulates recycling endosome and is required for skin development in mice. Communications biology. 2019; 2 37. ( PubMed , DOI )

shigeomi shimizu: Organelle zones in mitochondria The Journal of Biochemistry. 2018.12;

Isoda Takeshi, Takagi Masatoshi: Non-coding RNA transcription modulates nuclear architecture to specify T-cell fate and blocks T-cell malignancies. CANCER SCIENCE. 2018.12; 109 346.

Isoda T, Nishimura A, Miyamoto S, Morio T, Takagi M, Murre C: Non-Coding RNA ThymoD Transcription Modulates Nuclear Architecture to Orchestrate T-Cell Fate and Block T-Cell Malignancies. PEDIATRIC BLOOD & CANCER. 2018.11; 65 S4.

Akihiro Tamura, Suguru Uemura, Nobuyuki Yamamoto, Atsuro Saito, Aiko Kozaki, Kenji Kishimoto, Toshiaki Ishida, Daiichiro Hasegawa, Haruka Hiroki, Tsubasa Okano, Kohsuke Imai, Tomohiro Morio, Hirokazu Kanegane, Yoshiyuki Kosaka: Hematopoietic cell transplantation for asymptomatic X-linked lymphoproliferative syndrome type 1. Allergy Asthma Clin Immunol. 2018.11; 14 82. ( PubMed , DOI )

Nagatsuma M, Takasawa K, Yamauchi T, Nakagawa R, Mizuno T, Tanaka E, Yamamoto K, Uemura N, Kashimada K, Morio T: A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus. Journal of human genetics. 2018.11; ( PubMed , DOI )

Chikako Kamae, Kohsuke Imai, Tamaki Kato, Tsubasa Okano, Kenichi Honma, Noriko Nakagawa, Tzu-Wen Yeh, Emiko Noguchi, Akira Ohara, Tomonari Shigemura, Hiroshi Takahashi, Shunichi Takakura, Masatoshi Hayashi, Aoi Honma, Seiichi Watanabe, Tomoko Shigemori, Osamu Ohara, Hiroyuki Sasaki, Takeo Kubota, Tomohiro Morio, Hirokazu Kanegane, Shigeaki Nonoyama: Clinical and Immunological Characterization of ICF Syndrome in Japan. J. Clin. Immunol.. 2018.10; 38 (8): 927-937. ( PubMed , DOI )

Chelisa Cardinez, Bahar Miraghazadeh, Kay Tanita, Elizabeth da Silva, Akihiro Hoshino, Satoshi Okada, Rochna Chand, Takaki Asano, Miyuki Tsumura, Kenichi Yoshida, Hidenori Ohnishi, Zenichiro Kato, Masahide Yamazaki, Yusuke Okuno, Satoru Miyano, Seiji Kojima, Seishi Ogawa, T Daniel Andrews, Matthew A Field, Gaetan Burgio, Tomohiro Morio, Carola G Vinuesa, Hirokazu Kanegane, Matthew C Cook: Gain-of-function IKBKB mutation causes human combined immune deficiency. J. Exp. Med.. 2018.10; 215 (11): 2715-2724. ( PubMed , DOI )

Akihiro Hoshino, Xi Yang, Kay Tanita, Kenichi Yoshida, Toshiaki Ono, Naonori Nishida, Yusuke Okuno, Takeyuki Kanzaki, Kumiko Goi, Hisanori Fujino, Koichi Ohshima, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Seiji Kojima, Tomohiro Morio, Hirokazu Kanegane: Modification of cellular and humoral immunity by somatically reverted T cells in X-linked lymphoproliferative syndrome type 1. J. Allergy Clin. Immunol.. 2018.10; 413 (1): 421-424. ( PubMed , DOI )

Tsurusaki Shinya, Matsuda Michitaka, Shimizu Shigeomi, Nakano Hiroyasu, Miyajima Atsushi, Tanaka Minoru: Elucidation of the Type of Cell Death at the Onset of Non-Alcoholic Steatohepatitis (NASH) HEPATOLOGY. 2018.10; 68 1023A-1024A.

Nobuhiro Fujikake, Minkyoung Shin, Shigeomi Shimizu: Association Between Autophagy and Neurodegenerative Diseases. Front Neurosci. 2018.09; 12 255. ( PubMed , DOI )

Atsumi Tsuji-Hosokawa, Kenichi Kashimada, Tomoko Kato, Yuya Ogawa, Risa Nomura, Kei Takasawa, Rowena Lavery, Andrea Coschiera, David Schlessinger, Vincent R Harley, Shuji Takada, Tomohiro Morio: Peptidyl arginine deiminase 2 (Padi2) is expressed in Sertoli cells in a specific manner and regulated by SOX9 during testicular development. Sci Rep. 2018.09; 8 (1): 13263. ( PubMed , DOI )

清水 重臣, 成田 匡司, 荒川 聡子: がんと細胞老化シグナル(Cancer and cellular senescence signaling Relationship between autophagy and cellular senescence Relationship between autophagy and cellular senescence) 日本癌学会総会記事. 2018.09; 77回 1120. ( ichushi )

渡辺 雄一郎, 本田 真也, 小西 昭充, 田邉 稔, 田中 真二, 清水 重臣: オートファジーはCep63を介して中心体数を制御する(Autophagy controls centrosome number by degrading Cep63) 日本癌学会総会記事. 2018.09; 77回 63. ( ichushi )

Nishiyama-Fujita Y, Kawana-Tachikawa AI, Ono T, Tanaka Y, Kato T, Heslop HE, Morio T, Takahashi S: Generation of multivirus-specific T cells by a single stimulation of peripheral blood mononuclear cells with a peptide mixture using serum-free medium. Tanaka Y. 2018.08; 20 (9): 1182-1190. ( PubMed , DOI )

Akihiro Hoshino, Kay Tanita, Kenji Kanda, Ken-Ichi Imadome, Yoshiaki Shikama, Takahiro Yasumi, Kohsuke Imai, Masatoshi Takagi, Tomohiro Morio, Hirokazu Kanegane: High frequencies of asymptomatic Epstein-Barr virus viremia in affected and unaffected individuals with CTLA4 mutations. Clin. Immunol.. 2018.07; 195 45-48. ( PubMed , DOI )

Noguchi Y, Tomizawa D, Hiroki H, Miyamoto S, Tezuka M, Miyawaki R, Tanaka-Kubota M, Okano T, Kobayashi C, Mitsuiki N, Aoki Y, Imai K, Kajiwara M, Kanegane H, Morio T, Takagi M.: Hematopoietic cell transplantation for myeloid/NK cell precursor acute leukemia in second remission. Clin Case Rep. 2018.06; 6 (6): 1023-1028. ( PubMed , DOI )

Kenji Kubara, Kazuto Yamazaki, Yasuharu Ishihara, Takuya Naruto, Huan-Ting Lin, Ken Nishimura, Manami Ohtaka, Mahito Nakanishi, Masashi Ito, Kappei Tsukahara, Tomohiro Morio, Masatoshi Takagi, Makoto Otsu: Status of KRAS in iPSCs Impacts upon Self-Renewal and Differentiation Propensity. Stem Cell Reports. 2018.06; 11 (2): 380-394. ( PubMed , DOI )

Ono S, Nakayama M, Kanegane H, Hoshino A, Shimodera S, Shibata H, Fujino H, Fujino T, Yunomae Y, Okano T, Yamashita M, Yasumi T, Izawa K, Takagi M, Imai K, Zhang K, Marsh R, Picard C, Latour S, Ohara O, Morio T.: Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing. Int. J. Hematol.. 2018.05; ( PubMed , DOI )

Rina Nishii, Takaya Moriyama, Laura J Janke, Wenjian Yang, Chase C Suiter, Ting-Nien Lin, Lie Li, Kentaro Kihira, Hidemi Toyoda, Ute Hofmann, Matthias Schwab, Masatoshi Takagi, Tomohiro Morio, Atsushi Manabe, Shirley Kham, Nan Jiang, Karen R Rabin, Motohiro Kato, Katsuyoshi Koh, Allen Eng-Juh Yeoh, Hiroki Hori, Jun J Yang: Preclinical evaluation of NUDT15-guided thiopurine therapy and its effects on toxicity and antileukemic efficacy. Blood. 2018.05; 131 (22): 2466-2474. ( PubMed , DOI )

Mari Tanaka-Kubota, Koji Shinozaki, Satoshi Miyamoto, Masakatsu Yanagimachi, Tsubasa Okano, Noriko Mitsuiki, Masahiro Ueki, Masafumi Yamada, Kohsuke Imai, Masatoshi Takagi, Kazunaga Agematsu, Hirokazu Kanegane, Tomohiro Morio: Hematopoietic stem cell transplantation for pulmonary alveolar proteinosis associated with primary immunodeficiency disease. Int. J. Hematol.. 2018.05; 107 (5): 610-614. ( PubMed , DOI )

Yoshinori Kawabe, Takahiro Morio, Yoshimasa Tanaka, Pauline Schaap: Glycogen synthase kinase 3 promotes multicellular development over unicellular encystation in encysting Dictyostelia. Evodevo. 2018.05; 9 12. ( PubMed , DOI )

Asami Shimbo, Kei Takasawa, Masato Nishioka, Tomohiro Morio, Masayuki Shimohira: Complications of Listeria meningitis in two immunocompetent children. Pediatr Int. 2018.05; 60 (5): 491-492. ( PubMed , DOI )

Tomonori Kadowaki, Hidenori Ohnishi, Norio Kawamoto, Tomohiro Hori, Kenichi Nishimura, Chie Kobayashi, Tomonari Shigemura, Shohei Ogata, Yuzaburo Inoue, Tomoki Kawai, Eitaro Hiejima, Masatoshi Takagi, Kohsuke Imai, Ryuta Nishikomori, Shuichi Ito, Toshio Heike, Osamu Ohara, Tomohiro Morio, Toshiyuki Fukao, Hirokazu Kanegane: Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders. J Allergy Clin Immunol. 2018.04; 141 (4): 1485-1488.e11. ( PubMed , DOI )

Ryuichi Nakagawa, Atsumi Hosokawa-Tsuji, Yuki Aoki, Kei Takasawa, Mitsue Maru, Keisuke Nakajima, Akito Sutani, Yuichi Miyakawa, Daisuke Tomizawa, Kenichi Kashimada, Tomohiro Morio: Total body irradiation for hematopoietic stem cell transplantation during early childhood is associated with the risk for diabetes mellitus. Endocrine. 2018.04; 61 (1): 76-82. ( PubMed , DOI )

Okano T, Tsujita Y, Kanegane H, Mitsui-Sekinaka K, Tanita K, Miyamoto S, Yeh TW, Yamashita M, Terada N, Ogura Y, Takagi M, Imai K, Nonoyama S, Morio T.: Droplet Digital PCR-Based Chimerism Analysis for Primary Immunodeficiency Diseases. J. Clin. Immunol.. 2018.04; ( PubMed , DOI )

Asano T, Okada S, Tsumura M, Yeh TW, Mitsui-Sekinaka K, Tsujita Y, Ichinose Y, Shimada A, Hashimoto K, Wada T, Imai K, Ohara O, Morio T, Nonoyama S, Kobayashi M.: Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome. Front Immunol. 2018.04; 9 568. ( PubMed , DOI )

Akihiro Hoshino, Takehiro Takashima, Kenichi Yoshida, Akira Morimoto, Yuta Kawahara, Tzu-Wen Yeh, Tsubasa Okano, Motoi Yamashita, Noriko Mitsuiki, Kohsuke Imai, Takashi Sakatani, Atsuko Nakazawa, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Seiji Kojima, Tomohiro Morio, Hirokazu Kanegane: Dysregulation of Epstein-Barr virus infection in hypomorphic ZAP70 mutation J. Infect. Dis.. 2018.04; 218 (5): 825-834. ( PubMed , DOI )

Yasuo Horikoshi, Katsutsugu Umeda, Kohsuke Imai, Hiromasa Yabe, Yoji Sasahara, Kenichiro Watanabe, Yukiyasu Ozawa, Yoshiko Hashii, Hidemitsu Kurosawa, Shigeaki Nonoyama, Tomohiro Morio: Allogeneic Hematopoietic Stem Cell Transplantation for Leukocyte Adhesion Deficiency. J. Pediatr. Hematol. Oncol.. 2018.03; 40 (2): 137-140. ( PubMed , DOI )

Yasuyoshi Ishiwata, Masashi Nagata, Kohta Tsuge, Hiromitsu Takahashi, Sayo Suzuki, Kohsuke Imai, Masatoshi Takagi, Hirokazu Kanegane, Tomohiro Morio, Masato Yasuhara: Population Pharmacokinetics of Intravenous Busulfan in Japanese Pediatric Patients With Primary Immunodeficiency Diseases. J Clin Pharmacol. 2018.03; 58 (3): 327-331. ( PubMed , DOI )

Daniel Petersheim, Michel J Massaad, Saetbyul Lee, Alessia Scarselli, Caterina Cancrini, Kunihiko Moriya, Yoji Sasahara, Arjan C Lankester, Morna Dorsey, Daniela Di Giovanni, Liliana Bezrodnik, Hidenori Ohnishi, Ryuta Nishikomori, Kay Tanita, Hirokazu Kanegane, Tomohiro Morio, Erwin W Gelfand, Ashish Jain, Elizabeth Secord, Capucine Picard, Jean-Laurent Casanova, Michael H Albert, Troy R Torgerson, Raif S Geha: Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency. J. Allergy Clin. Immunol.. 2018.03; 141 (3): 1060-1073.e3. ( PubMed , DOI )

Nagata M, Arakawa S, Yamaguchi H, Torii S, Endo H, Tsujioka M, Honda S, Nishida Y, Konishi A, Shimizu S: Dram1 regulates DNA damage-induced alternative autophagy. Cell stress. 2018.03; 2 (3): 55-65. ( PubMed , DOI )

Meruna Nagata, Satoko Arakawa, Hirofumi Yamaguchi, Satoru Torii, Hazuki Endo, Masatsune Tsujioka, Shinya Honda, Yuya Nishida, Akimitsu Konishi, Shigeomi Shimizu: Dram1 regulates DNA damage-induced alternative autophagy Cell Stress. 2018.03; 2 (3): 55-65. ( DOI )

Yuji Sugawara, Kohsuke Imai, Ayako Kashimada, Kengo Moriyama, Shimpei Baba, Ryuta Nishikomori, Mizuho Motegi, Yasuo Takeuchi, Tomohiro Morio: Autoinflammatory phenotypes in Aicardi-Goutières syndrome with interferon upregulation and serological autoimmune features J. Allergy Clin. Immunol. 2018.03; 141 (3): 1135-1138. ( PubMed , DOI )

Toshiaki Ono, Yuriko Fujita, Tetsuro Matano, Satoshi Takahashi, Tomohiro Morio, Ai Kawana-Tachikawa: Characterization of in vitro expanded virus-specific T cells toward adoptive immunotherapy against virus infection Jpn. J. Infect. Dis.. 2018.02; 71 (2): 122-128. ( PubMed , DOI )

Takasawa Kei, Nakagawa Ryuichi, Takishima Shigeru, Moriyama Kengo, Watanabe Ken, Kiyohara Koji, Hasegawa Takeshi, Shimohira Masahiro, Kashimada Kenichi, Shimizu Norio, Morio Tomohiro: 迅速かつ網羅的なウイルス検査システムによって診断した日本人小児の急性脳炎/脳症の原因と臨床症状の違い(Cause of acute encephalitis/encephalopathy in Japanese children diagnosed by a rapid and comprehensive virological detection system and differences in their clinical presentations) Brain & Development. 2018.02; 40 (2): 107-115. ( ichushi )

Ryuichi Nakagawa, Kei Takasawa, Tzu-Wen Yeh, Kohsuke Imai, Kenichi Kashimada, Tomohiro Morio: Type 1 Diabetes Mellitus Associated with Activated Phosphoinositide-3-kinase Delta Syndrome, Type 2. J Diabetes. 2018.02; 10 (5): 421-422. ( PubMed , DOI )

Tomokazu Yamaguchi, Takashi Suzuki, Teruki Sato, Akinori Takahashi, Hiroyuki Watanabe, Ayumi Kadowaki, Miyuki Natsui, Hideaki Inagaki, Satoko Arakawa, Shinji Nakaoka, Yukio Koizumi, Shinsuke Seki, Shungo Adachi, Akira Fukao, Toshinobu Fujiwara, Tohru Natsume, Akinori Kimura, Masaaki Komatsu, Shigeomi Shimizu, Hiroshi Ito, Yutaka Suzuki, Josef M Penninger, Tadashi Yamamoto, Yumiko Imai, Keiji Kuba: The CCR4-NOT deadenylase complex controls Atg7-dependent cell death and heart function. Sci Signal. 2018.02; 11 (516): ( PubMed , DOI )

Masatoshi Takagi, Akihiro Hoshino, Kenichi Yoshida, Hiroo Ueno, Kohsuke Imai, Jinhua Piao, Hirokazu Kanegane, Motoi Yamashita, Tsubasa Okano, Hideki Muramatsu, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Yasuhide Hayashi, Seiji Kojima, Tomohiro Morio: Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation. Pediatr Blood Cancer. 2018.02; 65 (2): ( PubMed , DOI )

Hidefumi Iwashita, Hajime Tajima Sakurai, Noriyoshi Nagahora, Munetaka Ishiyama, Kosei Shioji, Kazumi Sasamoto, Kentaro Okuma, Shigeomi Shimizu, Yuichiro Ueno: Small fluorescent molecules for monitoring autophagic flux. FEBS Lett.. 2018.02; 592 (4): 559-567. ( PubMed , DOI )

Ayako Kashimada, Setsuko Hasegawa, Takeo Isagai, Tsuyoshi Uchiyama, Muneaki Matsuo, Motoharu Kawai, Masahide Goto, Tomohiro Morio, Yukiko K Hayashi, Masatoshi Takagi: Targeting the enhanced ER stress response in Marinesco-Sjögren syndrome J. Neurol. Sci.. 2018.02; 385 49-56. ( PubMed , DOI )

Shigeomi Shimizu: Biological Roles of Alternative Autophagy. Mol. Cells. 2018.01; 41 (1): 50-54. ( PubMed , DOI )

Kei Takasawa, Maki Igarashi, Makoto Ono, Akira Takemoto, Shuji Takada, Atsuyuki Yamataka, Tsutomu Ogata, Tomohiro Morio, Maki Fukami, Kenichi Kashimada: Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review Sex Dev. 2018.01; 11 (5-6): 284-288. ( PubMed , DOI )

Kohno Takashi, Shimizu Shigeomi: New therapeutic ways for new precision cancer medicine: Vulnerability of cancer cells CANCER SCIENCE. 2018.01; 109 942.

Toshihiro Matsui, Takumi Matsumoto, Fumio Hirano, Fumika Tokunaga, Keisuke Okamoto, Shigeto Tohma, Tomohiro Morio, Hitoshi Kohsaka, Masaaki Mori: Survey of the awareness of adult rheumatologists regarding transitional care for patients with juvenile idiopathic arthritis in Japan Mod Rheumatol. 2018.01; 28 (6): 981-985. ( PubMed , DOI )

Hirokazu Kanegane, Akihiro Hoshino, Tsubasa Okano, Takahiro Yasumi, Taizo Wada, Hidetoshi Takada, Satoshi Okada, Motoi Yamashita, Tzu-Wen Yeh, Ryuta Nishikomori, Masatoshi Takagi, Kohsuke Imai, Hans D Ochs, Tomohiro Morio: Flow cytometry-based diagnosis of primary immunodeficiency diseases Allergol Int. 2018.01; ( PubMed , DOI )

Sanami Takada, Naotomo Kambe, Yuri Kawasaki, Akira Niwa, Fumiko Honda-Ozaki, Kazuki Kobayashi, Mitsujiro Osawa, Ayako Nagahashi, Katsunori Semi, Akitsu Hotta, Isao Asaka, Yasuhiro Yamada, Ryuta Nishikomori, Toshio Heike, Hiroyuki Matsue, Tatsutoshi Nakahata, Megumu K. Saito: Pluripotent stem cell models of Blau syndrome reveal an IFN-γ–dependent inflammatory response in macrophages Journal of Allergy and Clinical Immunology. 2018.01; 141 (1): 339-349.e11. ( DOI )

Atsumi Tsuji-Hosokawa, Kei Takasawa, Risa Nomura, Yuichi Miyakawa, Chikahiko Numakura, Atsushi Hijikata, Tsuyoshi Shirai, Yoshihiro Ogawa, Kenichi Kashimada, Tomohiro Morio: Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases. Pediatr Diabetes. 2017.12; ( PubMed , DOI )

本田 真也, 清水 重臣: オートファジーは中心体数を制御することで腫瘍形成を抑制する 生命科学系学会合同年次大会. 2017.12; 2017年度 [1P-1001]. ( ichushi )

Aziz Bousfiha, Leïla Jeddane, Capucine Picard, Fatima Ailal, H Bobby Gaspar, Waleed Al-Herz, Talal Chatila, Yanick J Crow, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Jennifer Puck, Mimi L K Tang, Stuart G Tangye, Troy R Torgerson, Jean-Laurent Casanova, Kathleen E Sullivan: The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. J. Clin. Immunol. 2017.12; 38 (1): 129-143. ( PubMed , DOI )

Capucine Picard, H Bobby Gaspar, Waleed Al-Herz, Aziz Bousfiha, Jean-Laurent Casanova, Talal Chatila, Yanick J Crow, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Jennifer Puck, Mimi L K Tang, Stuart G Tangye, Troy R Torgerson, Kathleen E Sullivan: International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J. Clin. Immunol. 2017.12; 38 (1): 96-128. ( PubMed , DOI )

Akiyama Shintaro, Mochizuki Wakana, Nibe Yoichi, Matsumoto Yuka, Sakamoto Kei, Oshima Shigeru, Watanabe Mamoru, Nakamura Tetsuya: マウス結腸杯細胞集団にて、CCN3発現は独特なスルホムチン非産生亜細胞集団を標識する(CCN3 Expression Marks a Sulfomucin-nonproducing Unique Subset of Colonic Goblet Cells in Mice) Acta Histochemica et Cytochemica. 2017.12; 50 (6): 159-168. ( ichushi )

Kazuo Takayama, Naoki Akita, Natsumi Mimura, Rina Akahira, Yukimasa Taniguchi, Makoto Ikeda, Fuminori Sakurai, Osamu Ohara, Tomohiro Morio, Kiyotoshi Sekiguchi, Hiroyuki Mizuguchi: Generation of safe and therapeutically effective human induced pluripotent stem cell-derived hepatocyte-like cells for regenerative medicine Hepatol Commun. 2017.12; 1 (10): 1058-1069. ( PubMed , DOI )

Masayuki Nagasawa, Noriko Mitsuiki, Yuki Aoki, Toshiaki Ono, Takeshi Isoda, Kohsuke Imai, Masatoshi Takagi, Michiko Kajiwara, Hirokazu Kanegane, Tomohiro Morio: Effect of reduced-intensity conditioning and the risk of late-onset non-infectious pulmonary complications in pediatric patients Eur. J. Haematol. 2017.12; 99 (6): 525-531. ( PubMed , DOI )

Yoichi Nibe, Shigeru Oshima, Masanori Kobayashi, Chiaki Maeyashiki, Yu Matsuzawa, Kana Otsubo, Hiroki Matsuda, Emi Aonuma, Yasuhiro Nemoto, Takashi Nagaishi, Ryuichi Okamoto, Kiichiro Tsuchiya, Tetsuya Nakamura, Shinichiro Nakada, Mamoru Watanabe: Novel polyubiquitin imaging system, PolyUb-FC, reveals that K33-linked polyubiquitin is recruited by SQSTM1/p62. Autophagy. 2017.11; 14 (2): 1-43. ( PubMed , DOI )

Miyamoto Satoshi, Takagi Masatoshi, Nishimura Akira, Tanaka Mari, Ono Shintaro, Ashiarai Miho, Mitsuiki Noriko, Hoshino Akihiro, Yanagimachi Masakatsu, Aoki Yuki, Tomizawa Daisuke, Imai Kohsuke, Kajiwara Michiko, Kanegane Hirokazu, Morio Tomohiro: A 7-year-old Girl who Maintains Complete Remission after Multiple Hematopoietic Cell Transplantation for Frequent Relapse of Infant Leukemia PEDIATRIC BLOOD & CANCER. 2017.11; 64 S92-S93.

Masatoshi Takagi, Misa Yoshida, Yoshino Nemoto, Hiroyuki Tamaichi, Rika Tsuchida, Masafumi Seki, Kumiko Uryu, Noriko Hoshino, Rina Nishii, Satoshi Miyamoto, Masahiro Saito, Toshiaki Shimizu, Ryoji Hanada, Hideo Kaneko, Toshiyuki Fukao, Takatoshi Koyama, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Yusuke Sato, Yoichi Fujii, Keisuke Kataoka, Yusuke Okuno, Kenichi Yoshida, Tomohiro Morio, Akira Oka, Miki Ohira, Yasuhide Hayashi, Akira Nakagawara, Seishi Ogawa, Shuki Mizutani, Junko Takita.: Loss of DNA Damage Response in Neuroblastoma and Utility of a PARP Inhibitor. J. Natl. Cancer Inst.. 2017.11; 109 (11): ( PubMed , DOI )

Risa Nomura, Kentaro Miyai, Gen Nishimura, Kenichi Kashimada, Tomohiro Morio: Myhre syndrome: Age-dependent progressive phenotype Pediatr Int. 2017.11; 59 (11): 1205-1206. ( PubMed , DOI )

Satoshi Yotsumoto, Yuito Muroi, Tatsuya Chiba, Rio Ohmura, Maki Yoneyama, Megumi Magarisawa, Kosuke Dodo, Naoki Terayama, Mikiko Sodeoka, Ryohei Aoyagi, Makoto Arita, Satoko Arakawa, Shigeomi Shimizu, Masato Tanaka: Hyperoxidation of ether-linked phospholipids accelerates neutrophil extracellular trap formation. Sci Rep. 2017.11; 7 (1): 16026. ( PubMed , DOI )

Shuya Kasai, Mary Jane Elizabeth Richardson, Satoru Torii, Ken-Ichi Yasumoto, Hiroki Shima, Kazuhiko Igarashi, Ken Itoh, Kazuhiro Sogawa, Kazutaka Murayama: Increase in pro-apoptotic activity of inhibitory PAS domain protein via phosphorylation by MK2. FEBS Journal. 2017.10; 284 (23): 4115-4127. ( PubMed , DOI )

Kei Takasawa, Ryuichi Nakagawa, Shigeru Takishima, Kengo Moriyama, Ken Watanabe, Koji Kiyohara, Takeshi Hasegawa, Masahiro Shimohira, Kenichi Kashimada, Norio Shimizu, Tomohiro Morio: Cause of acute encephalitis/encephalopathy in Japanese children diagnosed by a rapid and comprehensive virological detection system and differences in their clinical presentations. Brain Dev. 2017.10; 40 (2): 107-115. ( PubMed , DOI )

Shimpei Baba, Ayumi Kobayashi, Haruna Yokoyama, Kengo Moriyama, Ayako Kashimada, Jun Oyama, Ayako Owada, Shoichi Oyama, Tomohiro Morio, Masatoshi Takagi: Slowly progressive leukodystrophy in an adolescent male with phosphoglycerate kinase deficiency. Brain Dev. 2017.10; 40 (2): 150-154. ( PubMed , DOI )

Shigeomi Shimizu: Biological roles of alternative autophagy Molecules and Cells. 2017.10;

Tomohiro Morio: Recent advances in the study of immunodeficiency and DNA damage response. Int. J. Hematol. 2017.10; 106 (3): 357-365. ( PubMed , DOI )

Akira Endo, Miko Okamura, Shunsuke Yoshikawa, Yasuhiro Otomo, Tomohiro Morio: Multilateral Functional Alterations of Human Neutrophils in Sepsis: From the Point of Diagnosis to the Seventh Day. Shock. 2017.10; 48 (6): 629-637. ( PubMed , DOI )

Hidefumi Iwashita, Satoru Torii, Noriyoshi Nagahora, Munetaka Ishiyama, Kosei Shioji, Kazumi Sasamoto, Shigeomi Shimizu, Kentaro Okuma: Live Cell Imaging of Mitochondrial Autophagy with a Novel Fluorescent Small Molecule. ACS Chem. Biol.. 2017.10; 12 (10): 2546-2551. ( PubMed , DOI )

Tsubasa Okano, Takuro Nishikawa, Eri Watanabe, Takashi Watanabe, Takehiro Takashima, Tzu-Wen Yeh, Motoi Yamashita, Mari Tanaka-Kubota, Satoshi Miyamoto, Noriko Mitsuiki, Masatoshi Takagi, Yoshifumi Kawano, Yoshiki Mochizuki, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio: Maternal T and B cell engraftment in two cases of X-linked severe combined immunodeficiency with IgG1 gammopathy. Clin. Immunol. 2017.10; 183 112-120. ( PubMed , DOI )

Jumpei Asano, Taku Sato, Shizuko Ichinose, Mihoko Kajita, Nobuyuki Onai, Shigeomi Shimizu, and Toshiaki Ohteki : Intrinsic autophagy is required for the maintenance of intestinal stem cells and for irradiation-induced intestinal regeneration Cell Reports. 2017.09;

Satoko Arakawa, Shinya Honda, Hirofumi Yamaguchi, Shigeomi Shimizu: Molecular mechanisms and physiological roles of Atg5/Atg7-independent alternative autophagy Proceedings of the Japan Academy, Series B. 2017.09;

清水 重臣: がん個別化医療の革新を目指す新規治療戦略　がんの脆弱性 オートファジー細胞死を誘導する新規抗がん剤の開発 日本癌学会総会記事. 2017.09; 76回 S18-1. ( ichushi )

Hidefumi Iwashita , Satoru Torii, Noriyoshi Nagahora, Munetaka Ishiyama, Kosei Shioji, Kazumi Sasamoto, Shigeomi Shimizu, and Kentaro Okuma: Live Cell Imaging of Mitochondrial Autophagy with a Novel Fluorescent Small Molecule ACS Chem. Biol.. 2017.09;

Charline Miot, Kohsuke Imai, Chihaya Imai, Anthony J Mancini, Zeynep Yesim Kucuk, Tokomki Kawai, Ryuta Nishikomori, Etsuro Ito, Isabelle Pellier, Sophie Dupuis Girod, Jeremie Rosain, Shinya Sasaki, Shanmuganathan Chandrakasan, Jana Pachlopnik Schmid, Tsubasa Okano, Estelle Colin, Alberto Olaya-Vargas, Marco Yamazaki-Nakashimada, Waseem Qasim, Sara Espinosa Padilla, Andrea Jones, Alfons Krol, Nyree Cole, Stephen Jolles, Jack Bleesing, Thomas Vraetz, Andrew R Gennery, Mario Abinun, Tayfun Güngör, Beatriz Costa-Carvalho, Antonio Condino-Neto, Paul Veys, Steven M Holland, Gulbu Uzel, Despina Moshous, Benedicte Neven, Stéphane Blanche, Stephan Ehl, Rainer Döffinger, Smita Y Patel, Anne Puel, Jacinta Bustamante, Erwin W Gelfand, Jean-Laurent Casanova, Jordan S Orange, Capucine Picard: Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations Blood. 2017.09; 130 (12): 1456-1467. ( PubMed , DOI )

Kanemoto K, Sugimura Y, Shimizu S, Yoshida S, Hosoya T: Rhodium-catalyzed odorless synthesis of diaryl sulfides from borylarenes and #IS#IR-aryl thiosulfonates. Chem Commun. 2017.09; 53 (77): 10640-10643. ( PubMed , DOI )

Johanna Schepp, Janet Chou, Andrea Skrabl-Baumgartner, Peter D Arkwright, Karin R Engelhardt, Sophie Hambleton, Tomohiro Morio, Ekkehard Röther, Klaus Warnatz, Raif Geha, Bodo Grimbacher: 14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency. Front Immunol. 2017.08; 8 964. ( PubMed , DOI )

Jumpei Asano, Taku Sato, Shizuko Ichinose, Mihoko Kajita, Nobuyuki Onai, Shigeomi Shimizu, Toshiaki Ohteki: Intrinsic Autophagy Is Required for the Maintenance of Intestinal Stem Cells and for Irradiation-Induced Intestinal Regeneration. Cell Rep. 2017.08; 20 (5): 1050-1060. ( PubMed , DOI )

Taizo Wada, Satoshi Miyamoto, Hiroyuki Okamoto, Yusuke Matsuda, Tomoko Toma, Kohsuke Imai, Masatoshi Takagi, Tomohiro Morio, Akihiro Yachie: Prolonged neutropenia due to antihuman neutrophil antigen 2 (CD177) antibody after bone marrow transplantation Pediatr Blood Cancer. 2017.07; 64 (7): ( PubMed , DOI )

Masayuki Nagasawa, Teppei Ohkawa, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio: A Stable Mixed Chimera After SCT with RIC in an Infant with IκBα Hypermorphic Mutation. J. Clin. Immunol.. 2017.07; 37 (5): 413-414. ( PubMed , DOI )

Ayumi Kobayashi, Reiko Takasawa, Kei Takasawa, Masato Nishioka, Masahide Kaneko, Hiroshi Ono, Takanobu Maekawa, Tomohiro Morio, Masayuki Shimohira: An infant case of severe hypereosinophilia and systemic symptoms with multiple drug hypersensitivity and reactivation of cytomegalovirus and BK virus. Allergol Int. 2017.07; 66 (3): 479-481. ( PubMed , DOI )

Takehiro Takashima, Miko Okamura, Tzu-Wen Yeh, Tsubasa Okano, Motoi Yamashita, Keisuke Tanaka, Akihiro Hoshino, Noriko Mitsuiki, Masatoshi Takagi, Eiichi Ishii, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio: Multicolor Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases J. Clin. Immunol. 2017.07; 37 (5): 486-495. ( PubMed , DOI )

Yujin Sekinaka, Noriko Mitsuiki, Kohsuke Imai, Miharu Yabe, Hiromasa Yabe, Kanako Mitsui-Sekinaka, Kenichi Honma, Masatoshi Takagi, Ayako Arai, Kenichi Yoshida, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Hideki Muramatsu, Seiji Kojima, Asuka Hira, Minoru Takata, Osamu Ohara, Seishi Ogawa, Tomohiro Morio, Shigeaki Nonoyama: Common Variable Immunodeficiency Caused by FANC Mutations. J. Clin. Immunol. 2017.07; 37 (5): 434-444. ( PubMed , DOI )

Akihiro Hoshino, Satoshi Okada, Kenichi Yoshida, Naonori Nishida, Yusuke Okuno, Hiroo Ueno, Motoi Yamashita, Tsubasa Okano, Miyuki Tsumura, Shiho Nishimura, Sonoko Sakata, Masao Kobayashi, Haruna Nakamura, Junji Kamizono, Kanako Mitsui-Sekinaka, Takuya Ichimura, Shouichi Ohga, Yozo Nakazawa, Masatoshi Takagi, Kohsuke Imai, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Seiji Kojima, Shigeaki Nonoyama, Tomohiro Morio, Hirokazu Kanegane: Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations. J Allergy Clin Immunol. 2017.07; 140 (1): 223-231. ( PubMed , DOI )

Arakawa Satoko, Honda Shinya, Yamaguchi Hirofumi, Shimizu Shigeomi: Atg5/Atg7非依存的代替オートファジーの分子機序と生理的役割(Molecular mechanisms and physiological roles of Atg5/Atg7-independent alternative autophagy) Proceedings of the Japan Academy Series B, Physical and Biological Sciences. 2017.06; 93 (6): 378-384. ( ichushi )

Satoko Arakawa, Masatsune Tsujioka, Tatsushi Yoshida, Hajime Tajima-Sakurai, Yuya Nishida, Yosuke Matsuoka, Ikuyo Yoshino, Yoshihide Tsujimoto, Shigeomi Shimizu: Role of Atg5-dependent cell death in the embryonic development of Bax/Bak double-knockout mice. Cell Death Differ.. 2017.06; 24 (9): 1598-1608. ( PubMed , DOI )

Satoko Arakawa, Shinya Honda, Hirofumi Yamaguchi, Shigeomi Shimizu: Molecular mechanisms and physiological roles of Atg5/Atg7-independent alternative autophagy. Proc. Jpn. Acad., Ser. B, Phys. Biol. Sci.. 2017.06; 93 (6): 378-385. ( PubMed , DOI )

Masatoshi Takagi, Shohei Ogata, Hiroo Ueno, Kenichi Yoshida, Tzuwen Yeh, Akihiro Hoshino, Jinhua Piao, Motoy Yamashita, Mai Nanya, Tsubasa Okano, Michiko Kajiwara, Hirokazu Kanegane, Hideki Muramatsu, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Yuki Bando, Motohiro Kato, Yasuhide Hayashi, Satoru Miyano, Kohsuke Imai, Seishi Ogawa, Seiji Kojima, Tomohiro Morio: Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome. J. Allergy Clin. Immunol.. 2017.06; 139 (6): 1914-1922. ( PubMed , DOI )

Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya, Yutaka Negishi, Hideaki Shiraishi, Yutaka Nonoda, Shinichi Magara, Jun Tohyama, Nobuhiko Okamoto, Takeshi Kumagai, Konomi Shimoda, Yoshiya Yukitake, Daigo Kajikawa, Tomohiro Morio, Ayako Hattori, Motoo Nakagawa, Naoki Ando, Ichizo Nishino, Mitsuhiro Kato, Tatsuhiko Tsunoda, Hirotomo Saitsu, Yonehiro Kanemura, Mami Yamasaki, Kenjiro Kosaki, Naomichi Matsumoto, Tamotsu Yoshimori, Shinji Saitoh: Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement. Sci Rep. 2017.06; 7 (1): 3552. ( PubMed , DOI )

Masatoshi Takagi, Yasuyoshi Ishiwata, Yuki Aoki, Satoshi Miyamoto, Akihiro Hoshino, Kazuaki Matsumoto, Akira Nishimura, Mari Tanaka, Masakatsu Yanagimachi, Noriko Mitsuiki, Kohsuke Imai, Hirokazu Kanegane, Michiko Kajiwara, Kanako Takikawa, Tsukasa Mae, Osamu Tomita, Junya Fujimura, Masato Yasuhara, Daisuke Tomizawa, Shuki Mizutani, Tomohiro Morio: HLA haploidentical hematopoietic cell transplantation using clofarabine and busulfan for refractory pediatric hematological malignancy. Int J Hematol. 2017.05; 105 (5): 686-691. ( PubMed , DOI )

Nienke J H van Os, Anne F M Jansen, Marcel van Deuren, Asgeir Haraldsson, Nieke T M van Driel, Amos Etzioni, Michiel van der Flier, Charlotte A Haaxma, Tomohiro Morio, Amit Rawat, Michiel H D Schoenaker, Annarosa Soresina, Alexander M R Taylor, Bart P C van de Warrenburg, Corry M R Weemaes, Nel Roeleveld, Michèl A A P Willemsen: Ataxia-telangiectasia: Immunodeficiency and survival. Clin. Immunol.. 2017.05; 178 45-55. ( PubMed , DOI )

Haruna Yokoyama, Shimpei Baba, Jun Oyama, Kengo Moriyama, Tomohiro Morio: Early hypoperfusion on arterial spin labeling may be a diagnostic marker for acute encephalopathy with biphasic seizures and late reduced diffusion. Brain Dev.. 2017.05; 39 (8): 722. ( PubMed , DOI )

Satoko Arakawa, Shinya Honda, Satoru Torii, Masatsune Tsujioka, Shigeomi Shimizu: Monitoring of Atg5-Independent Mitophagy. Methods Mol. Biol.. 2017.04; 1759 125-132. ( PubMed , DOI )

Shimpei Baba, Yuji Sugawara, Kengo Moriyama, Motoki Inaji, Taketoshi Maehara, Toshiyuki Yamamoto, Tomohiro Morio: Amelioration of intractable epilepsy by adjunct vagus nerve stimulation therapy in a girl with a CDKL5 mutation. Brain Dev. 2017.04; 39 (4): 341-344. ( PubMed , DOI )

Tatsuya Kozaki, Jun Komano, Daiki Kanbayashi, Michihiro Takahama, Takuma Misawa, Takashi Satoh, Osamu Takeuchi, Taro Kawai, Shigeomi Shimizu, Yoshiharu Matsuura, Shizuo Akira, Tatsuya Saitoh: Mitochondrial damage elicits a TCDD-inducible poly(ADP-ribose) polymerase-mediated antiviral response. Proc. Natl. Acad. Sci. U.S.A.. 2017.03; 114 (10): 2681-2686. ( PubMed , DOI )

Chiaki Maeyashiki, Shigeru Oshima, Kana Otsubo, Masanori Kobayashi, Yoichi Nibe, Yu Matsuzawa, Michio Onizawa, Yasuhiro Nemoto, Takashi Nagaishi, Ryuichi Okamoto, Kiichiro Tsuchiya, Tetsuya Nakamura, Mamoru Watanabe: HADHA, the alpha subunit of the mitochondrial trifunctional protein, is involved in long-chain fatty acid-induced autophagy in intestinal epithelial cells. Biochem. Biophys. Res. Commun.. 2017.03; 484 (3): 636-641. ( PubMed , DOI )

Shinya Honda, Shigeomi Shimizu: Autophagy controls centrosome number. Oncotarget. 2017.02; 8 (9): 14277-14278. ( PubMed , DOI )

Atsumi Tsuji-Hosokawa, Nozomi Matsuda, Kenji Kurosawa, Kenichi Kashimada, Tomohiro Morio: A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty. Horm Res Paediatr. 2017.01; 87 (4): 217-216. ( PubMed , DOI )

Chikako Morioka, Motohiro Komaki, Atsuko Taki, Izumi Honda, Naoki Yokoyama, Kengo Iwasaki, Sachiko Iseki, Tomohiro Morio, Ikuo Morita: Neuroprotective effects of human umbilical cord-derived mesenchymal stem cells on periventricular leukomalacia-like brain injury in neonatal rats. Inflamm Regen. 2017.01; 37 1. ( PubMed , DOI )

Shintaro Ono, Tsubasa Okano, Akihiro Hoshino, Masakatsu Yanagimachi, Kazuko Hamamoto, Yozo Nakazawa, Toshihiko Imamura, Masaei Onuma, Hidetaka Niizuma, Yoji Sasahara, Hiroshi Tsujimoto, Taizo Wada, Reiko Kunisaki, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio, Hirokazu Kanegane: Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan. J. Clin. Immunol. 2017.01; 37 (1): 85-91. ( PubMed , DOI )

Arakawa S, Honda S, Yamaguchi H, Shimizu S.: Molecular mechanisms and physiological roles of Atg5/Atg7-independent alternative autophagy. Proceedinds of the Japan Academy,Series B.. 2017;

Akiyama Shintaro, Mochizuki Wakana, Nibe Yoichi, Matsumoto Yuka, Sakamoto Kei, Oshima Shigeru, Watanabe Mamoru, Nakamura Tetsuya: CCN3 Expression Marks a Sulfomucin-nonproducing Unique Subset of Colonic Goblet Cells in Mice ACTA HISTOCHEMICA ET CYTOCHEMICA. 2017; 50 (6): 159-168. ( PubMed , DOI )

Katsutsugu Umeda, Souichi Adachi, Shiro Tanaka, Mizuka Miki, Keiko Okada, Yoshiko Hashii, Masami Inoue, Yuko Cho, Katsuyoshi Koh, Hiroaki Goto, Ryosuke Kajiwara, Nobuyuki Hyakuna, Koji Kato, Tomohiro Morio, Hiromasa Yabe, : Comparison of second transplantation and donor lymphocyte infusion for donor mixed chimerism after allogeneic stem cell transplantation for nonmalignant diseases. Pediatr Blood Cancer. 2016.12; 63 (12): 2221-2229. ( PubMed , DOI )

Akifumi Endo, Daisuke Tomizawa, Yuki Aoki, Tomohiro Morio, Shuki Mizutani, Masatoshi Takagi: EWSR1/ELF5 induces acute myeloid leukemia by inhibiting p53/p21 pathway. Cancer Sci.. 2016.12; 107 (12): 1745-1754. ( PubMed , DOI )

Yuki Tsujita, Kanako Mitsui-Sekinaka, Kohsuke Imai, Tzu-Wen Yeh, Noriko Mitsuiki, Takaki Asano, Hidenori Ohnishi, Zenichiro Kato, Yujin Sekinaka, Kiyotaka Zaha, Tamaki Kato, Tsubasa Okano, Takehiro Takashima, Kaoru Kobayashi, Mitsuaki Kimura, Tomoaki Kunitsu, Yoshihiro Maruo, Hirokazu Kanegane, Masatoshi Takagi, Kenichi Yoshida, Yusuke Okuno, Hideki Muramatsu, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seiji Kojima, Seishi Ogawa, Osamu Ohara, Satoshi Okada, Masao Kobayashi, Tomohiro Morio, Shigeaki Nonoyama: Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency. J. Allergy Clin. Immunol.. 2016.12; 138 (6): 1672-1680. ( PubMed , DOI )

Shigeru Takishima, Keisuke Nakajima, Risa Nomura, Atsumi Tsuji-Hosokawa, Nozomi Matsuda, Yohei Matsubara, Makoto Ono, Kentaro Miyai, Kei Takasawa, Tomohiro Morio, Yukihiro Hasegawa, Kenichi Kashimada: Lower body weight and BMI at birth were associated with early adiposity rebound in 21-hydroxylase deficiency patients. Endocr. J.. 2016.11; 63 (11): 983-990. ( PubMed , DOI )

Satoru Torii, Tatsushi Yoshida, Satoko Arakawa, Shinya Honda, Akira Nakanishi, Shigeomi Shimizu: Identification of PPM1D as an essential Ulk1 phosphatase for genotoxic stress-induced autophagy. EMBO Rep.. 2016.11; 17 (11): 1552-1564. ( PubMed , DOI )

Yuichiro Watanabe, Shinya Honda, Akimitsu Konishi, Satoko Arakawa, Michiko Murohashi, Hirofumi Yamaguchi, Satoru Torii, Minoru Tanabe, Shinji Tanaka, Eiji Warabi, Shigeomi Shimizu: Autophagy controls centrosome number by degrading Cep63. Nat Commun. 2016.11; 7 13508. ( PubMed , DOI )

Masanori Kobayashi, Shigeru Oshima, Chiaki Maeyashiki, Yoichi Nibe, Kana Otsubo, Yu Matsuzawa, Yasuhiro Nemoto, Takashi Nagaishi, Ryuichi Okamoto, Kiichiro Tsuchiya, Tetsuya Nakamura, Mamoru Watanabe: The ubiquitin hybrid gene UBA52 regulates ubiquitination of ribosome and sustains embryonic development. Sci Rep. 2016.11; 6 36780. ( PubMed , DOI )

Shumpei Yokota, Yasuhiko Itoh, Tomohiro Morio, Hideki Origasa, Naokata Sumitomo, Minako Tomobe, Kunihiko Tanaka, Seiji Minota: Tocilizumab in systemic juvenile idiopathic arthritis in a real-world clinical setting: results from 1 year of postmarketing surveillance follow-up of 417 patients in Japan. Ann. Rheum. Dis.. 2016.10; 75 (9): 1654-1660. ( PubMed , DOI )

Takeshi Sato, Tsubasa Okano, Mari Tanaka-Kubota, Shunsuke Kimura, Satoshi Miyamoto, Shintaro Ono, Motoi Yamashita, Noriko Mitsuiki, Masatoshi Takagi, Kohsuke Imai, Michiko Kajiwara, Takasuke Ebato, Shohei Ogata, Hirotsugu Oda, Osamu Ohara, Hirokazu Kanegane, Tomohiro Morio: Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency. Pediatr Int. 2016.10; 58 (10): 1076-1080. ( PubMed , DOI )

Akimitsu Konishi, Takashi Izumi, Shigeomi Shimizu: TRF2 Protein Interacts with Core Histones to Stabilize Chromosome Ends. J. Biol. Chem.. 2016.09; 291 (39): 20798-20810. ( PubMed , DOI )

Hirofumi Yamaguchi, Satoko Arakawa, Toku Kanaseki, Takeshi Miyatsuka, Yoshio Fujitani, Hirotaka Watada, Yoshihide Tsujimoto, Shigeomi Shimizu: Golgi membrane-associated degradation pathway in yeast and mammals. EMBO J.. 2016.09; 35 (18): 1991-2007. ( PubMed , DOI )

Taichi Matsumoto, Wakana Mochizuki, Yoichi Nibe, Shintaro Akiyama, Yuka Matsumoto, Kengo Nozaki, Masayoshi Fukuda, Ayumi Hayashi, Tomohiro Mizutani, Shigeru Oshima, Mamoru Watanabe, Tetsuya Nakamura: Retinol Promotes In Vitro Growth of Proximal Colon Organoids through a Retinoic Acid-Independent Mechanism. PLoS ONE. 2016.08; 11 (8): e0162049. ( PubMed , DOI )

Uchiyama H, Uehara K, Nagashima T, Nakata A, Sato K, Mihara Y, Komatsu KI, Takanari J, Shimizu S, Wakame K: Global Liver Gene Expression Analysis on a Murine Metabolic Syndrome Model Treated by Low-molecular-weight Lychee Fruit Polyphenol (Oligonol®). Anticancer research. 2016.07; 36 (7): 3705-13. ( PubMed )

Tatsushi Yoshida, Masatsune Tsujioka, Shinya Honda, Masato Tanaka, Shigeomi Shimizu: Autophagy suppresses cell migration by degrading GEF-H1, a RhoA GEF. Oncotarget. 2016.06; 7 (23): 34420-34429. ( PubMed , DOI )

Yusuke Nasu, Alexander Benke, Satoko Arakawa, Go J Yoshida, Genki Kawamura, Suliana Manley, Shigeomi Shimizu, Takeaki Ozawa: In Situ Characterization of Bak Clusters Responsible for Cell Death Using Single Molecule Localization Microscopy. Sci Rep. 2016.06; 6 27505. ( PubMed , DOI )

Masakatsu Yanagimachi, Takashi Ohya, Tomoko Yokosuka, Ryosuke Kajiwara, Fumiko Tanaka, Hiroaki Goto, Takehiro Takashima, Tomohiro Morio, Shumpei Yokota: The Potential and Limits of Hematopoietic Stem Cell Transplantation for the Treatment of Autosomal Dominant Hyper-IgE Syndrome. J. Clin. Immunol.. 2016.04; 36 (5): 511-516. ( PubMed , DOI )

Julie Toubiana, Satoshi Okada, Julia Hiller, Matias Oleastro, Macarena Lagos Gomez, Juan Carlos Aldave Becerra, Marie Ouachée-Chardin, Fanny Fouyssac, Katta Mohan Girisha, Amos Etzioni, Joris Van Montfrans, Yildiz Camcioglu, Leigh Ann Kerns, Bernd Belohradsky, Stéphane Blanche, Aziz Bousfiha, Carlos Rodriguez-Gallego, Isabelle Meyts, Kai Kisand, Janine Reichenbach, Ellen D Renner, Sergio Rosenzweig, Bodo Grimbacher, Frank L van de Veerdonk, Claudia Traidl-Hoffmann, Capucine Picard, Laszlo Marodi, Tomohiro Morio, Masao Kobayashi, Desa Lilic, Joshua D Milner, Steven Holland, Jean-Laurent Casanova, Anne Puel: Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype: an international survey of 274 patients from 167 kindreds. Blood. 2016.04; 127 (25): 3154-3164. ( PubMed , DOI )

T Muto, Y Takeda, S Tsukamoto, S Sakai, N Mimura, C Ohwada, M Takeuchi, E Sakaida, S Ota, T Iseki, N Shimizu, T Morio, C Nakaseko: Successful treatment of cytomegalovirus enteritis after unrelated allogeneic stem cell transplantation by the infusion of ex vivo-expanded CD4(+) lymphocytes derived from the recipient's peripheral blood donor cells. Transpl Infect Dis. 2016.02; 18 (1): 93-97. ( PubMed , DOI )

Yumiko Nakano, Takeshi Hayashi, Kentaro Deguchi, Kota Sato, Nozomi Hishikawa, Toru Yamashita, Yasuyuki Ohta, Yoshiki Takao, Tomohiro Morio, Koji Abe: Two young stroke patients associated with regular intravenous immunoglobulin (IVIg) therapy. J. Neurol. Sci.. 2016.02; 361 9-12. ( PubMed , DOI )

Kazuhiro Ikegame, Kohsuke Imai, Motoi Yamashita, Akihiro Hoshino, Hirokazu Kanegane, Tomohiro Morio, Katsuji Kaida, Takayuki Inoue, Toshihiro Soma, Hiroya Tamaki, Masaya Okada, Hiroyasu Ogawa: Allogeneic stem cell transplantation for X-linked agammaglobulinemia using reduced intensity conditioning as a model of the reconstitution of humoral immunity. J Hematol Oncol. 2016.02; 9 (1): 9. ( PubMed , DOI )

A Arai, C Sakashita, C Hirose, K-I Imadome, M Yamamoto, M Jinta, S Fujiwara, M Tomita, N Shimizu, T Morio, O Miura: Hematopoietic stem cell transplantation for adults with EBV-positive T- or NK-cell lymphoproliferative disorders: efficacy and predictive markers. Bone Marrow Transplant.. 2016.02; 51 (6): 879-882. ( PubMed , DOI )

Kei Takasawa, Sayaka Takeda, Masato Nishioka, Hiroshi Sakuma, Tomohiro Morio, Masayuki Shimohira: Steroid-responsive Status Epilepticus Caused by Human Parvovirus B19 Encephalitis. Pediatr. Infect. Dis. J.. 2016.02; 35 (2): 227-228. ( PubMed , DOI )

Seiichi Hayakawa, Satoshi Okada, Miyuki Tsumura, Sonoko Sakata, Yoshitaka Ueno, Kohsuke Imai, Tomohiro Morio, Osamu Ohara, Kazuaki Chayama, Masao Kobayashi: A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer. J. Clin. Immunol.. 2016.01; 36 (1): 28-32. ( PubMed , DOI )

Laura Gámez-Díaz, Dietrich August, Polina Stepensky, Shoshana Revel-Vilk, Markus G Seidel, Mitsuiki Noriko, Tomohiro Morio, Austen J J Worth, Jacob Blessing, Frank Van de Veerdonk, Tobias Feuchtinger, Maria Kanariou, Annette Schmitt-Graeff, Sophie Jung, Suranjith Seneviratne, Siobhan Burns, Bernd H Belohradsky, Nima Rezaei, Shahrzad Bakhtiar, Carsten Speckmann, Michael Jordan, Bodo Grimbacher: The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. J. Allergy Clin. Immunol.. 2016.01; 137 (1): 223-230. ( PubMed , DOI )

Yuki Aoki, Reiji Miyawaki, Kohsuke Imai, Masatoshi Takagi, Michiko Kajiwara, Yasuyoshi Ishiwata, Masato Yasuhara, Tomohiro Morio, Shuki Mizutani, Daisuke Tomizawa: Haploidentical Bone Marrow Transplantation With Clofarabine and Busulfan Conditioning for a Child With Multiple Recurrent Acute Lymphoblastic Leukemia. J. Pediatr. Hematol. Oncol.. 2016.01; 38 (1): 39-41. ( PubMed , DOI )

Kotaro Kai, Maki Sumida, Yaeko Motoyoshi, Yuichi Ogawa, Katsuyuki Miki, Kazuhiro Iwadoh, Akihito Sannomiya, Toru Murakami, Ichiro Koyama, Kumiko Kitajima, Ichiro Nakajima, Tomohiro Morio, Shohei Fuchinoue: Successful Long-term Graft Survival of a Renal Transplantation Patient with Wiskott-Aldrich Syndrome. Intern. Med.. 2016; 55 (13): 1761-1763. ( PubMed , DOI )

T Wada, Toma T, M Yasui, M Inoue, K Kawa, K Imai, T Morio, A Yachie: Different Clinical Phenotypes in 2 Siblings With X-Linked Severe Combined Immunodeficiency. J Investig Allergol Clin Immunol. 2016; 26 (1): 63-65. ( PubMed )

Uchiyama H, Uehara K, Nagashima T, Nakata A, Sato K, Mihara Y, Komatsu K, Takanari J, Shimizu S, Wakame K.: Global Liver Gene Expression Analysisi on a Murine Metabolic Syndrome Model Treated by Low-molecular-weight Lychee Fruit Polyphenol. Anticancer Research.. 2016; 36 (7): 3705-3713.

Tomohiro Kohmoto, Atsumi Tsuji, Kei-Ichi Morita, Takuya Naruto, Kiyoshi Masuda, Kenichi Kashimada, Keisuke Enomoto, Tomohiro Morio, Hiroyuki Harada, Issei Imoto: A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome. Hum Genome Var. 2016; 3 16003. ( PubMed , DOI )

Atsumi Tsuji, Kaoru Konishi, Satomi Hasegawa, Akira Anazawa, Toshikazu Onishi, Makoto Ono, Tomohiro Morio, Teruo Kitagawa, Kenichi Kashimada: Newborn screening for congenital adrenal hyperplasia in Tokyo, Japan from 1989 to 2013: a retrospective population-based study. BMC Pediatr. 2015.12; 15 (1): 209. ( PubMed , DOI )

遠藤彰,吉川俊輔,大友康裕,森尾友宏: 重症敗血症・敗血症性ショックにおける好中球機能の変化の検討 バイオメディカル. 2015.12; 25 2-8. ( ichushi )

Keisuke Nakajima, Shinobu Hirai, Tomohiro Morio, Haruo Okado: Benzodiazepines induce sequelae in immature mice with inflammation-induced status epilepticus. Epilepsy Behav. 2015.10; 52 (Pt A): 180-186. ( PubMed , DOI )

Kei Takasawa, Shigeru Takishima, Chikako Morioka, Masato Nishioka, Hirofumi Ohashi, Yoko Aoki, Masayuki Shimohira, Kenichi Kashimada, Tomohiro Morio: Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy. Am. J. Med. Genet. A. 2015.10; 167A (10): 2425-2429. ( PubMed , DOI )

Shinobu Tamura, Kohei Higuchi, Masaharu Tamaki, Chizuko Inoue, Ryoko Awazawa, Noriko Mitsuki, Yuka Nakazawa, Hiroyuki Mishima, Kenzo Takahashi, Osamu Kondo, Kohsuke Imai, Tomohiro Morio, Osamu Ohara, Tomoo Ogi, Fukumi Furukawa, Masami Inoue, Koh-Ichiro Yoshiura, Nobuo Kanazawa: Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency. Clin. Immunol.. 2015.10; 160 (2): 255-260. ( PubMed , DOI )

S Kasai, S Torii, A Kakita, K Sogawa: Inhibitory PAS domain protein is a substrate of PINK1 and Parkin and mediates cell death in a Parkinson's disease model. Cell Death Disease. 2015.09; 6 e1886. ( PubMed , DOI )

Shigeomi Shimizu: Autophagic Cell Death and Cancer Chemotherapeutics Innovative Medicine : Basic Research and Development. 2015.09; 219-226.

Takao Hayakawa, Takashi Aoi, Christopher Bravery, Karin Hoogendoorn, Ivana Knezevic, Junichi Koga, Daisuke Maeda, Akifumi Matsuyama, James McBlane, Tomohiro Morio, John Petricciani, Mahendra Rao, Anthony Ridgway, Daisaku Sato, Yoji Sato, Glyn Stacey, Norihisa Sakamoto, Jean-Hugues Trouvin, Akihiro Umezawa, Masayuki Yamato, Kazuo Yano, Hiroyuki Yokote, Kentaro Yoshimatsu, Pierrette Zorzi-Morre: Report of the international conference on regulatory endeavors towards the sound development of human cell therapy products. Biologicals. 2015.09; 43 (5): 283-297. ( PubMed , DOI )

S Torii, S Kasai, A Suzuki, Y Todoroki, K Yokozawa, K-I Yasumoto, N Seike, H Kiyonari, Y Mukumoto, A Kakita, K Sogawa: Involvement of inhibitory PAS domain protein in neuronal cell death in Parkinson's disease. Cell Death Discovery. 2015.08; 1 15015. ( PubMed , DOI )

Yu Matsuzawa, Shigeru Oshima, Masahiro Takahara, Chiaki Maeyashiki, Yasuhiro Nemoto, Masanori Kobayashi, Yoichi Nibe, Kengo Nozaki, Takashi Nagaishi, Ryuichi Okamoto, Kiichiro Tsuchiya, Tetsuya Nakamura, Averil Ma, Mamoru Watanabe: TNFAIP3 promotes survival of CD4 T cells by restricting MTOR and promoting autophagy. Autophagy. 2015.06; 11 (7): 1052-1062. ( PubMed , DOI )

Yohei Matsubara, Tomoko Kato, Kenichi Kashimada, Hiromitsu Tanaka, Zhou Zhi, Shizuko Ichinose, Shuki Mizutani, Tomohiro Morio, Tomoki Chiba, Yoshiaki Ito, Yumiko Saga, Shuji Takada, Hirhoshi Asahara: TALEN-mediated gene disruption on Y Chromosome reveals Critical Role of EIF2S3Y in Mouse Spermatogenesis. Stem Cells Dev.. 2015.05; 24 (10): 1164-1170. ( PubMed , DOI )

Tomoya Muto, Chikako Ohwada, Atsuko Yamazaki, Yasumasa Sugita, Shokichi Tsukamoto, Shio Sakai, Yusuke Takeda, Naoya Mimura, Masahiro Takeuchi, Emiko Sakaida, Tohru Iseki, Norio Shimizu, Tomohiro Morio, Chiaki Nakaseko: Long-term complete remission by infusion of ex vivo-expanded donor-derived CD4(+) lymphocytes for treating an early relapse of Hodgkin lymphoma after cord blood transplantation. Leuk. Lymphoma. 2015.05; 1-11. ( PubMed , DOI )

Go Matsuda, Ken-Ichi Imadome, Fuyuko Kawano, Masashi Mochizuki, Nakaba Ochiai, Tomohiro Morio, Norio Shimizu, Shigeyoshi Fujiwara: Cellular immunotherapy with ex vivo expanded cord blood T cells in a humanized mouse model of EBV-associated lymphoproliferative disease. Immunotherapy. 2015.04; 7 (4): 335-341. ( PubMed , DOI )

Shumpei Yokota, Yasuhiko Itoh, Tomohiro Morio, Naokata Sumitomo, Kaori Daimaru, Seiji Minota: Macrophage Activation Syndrome in Patients with Systemic Juvenile Idiopathic Arthritis under Treatment with Tocilizumab. J. Rheumatol.. 2015.04; 42 (4): 712-722. ( PubMed , DOI )

Tamaki Kato, Elena Crestani, Chikako Kamae, Kenichi Honma, Tomoko Yokosuka, Takeshi Ikegawa, Naonori Nishida, Hirokazu Kanegane, Taizo Wada, Akihiro Yachie, Osamu Ohara, Tomohiro Morio, Luigi D Notarangelo, Kohsuke Imai, Shigeaki Nonoyama: RAG1 Deficiency May Present Clinically as Selective IgA Deficiency. J. Clin. Immunol.. 2015.04; 35 (3): 280-288. ( PubMed , DOI )

Noriko Mitsuiki, Xi Yang, Sophinus J W Bartol, Christina Grosserichter-Wagener, Yoshiyuki Kosaka, Hidetoshi Takada, Kohsuke Imai, Hirokazu Kanegane, Shuki Mizutani, Mirjam van der Burg, Menno C van Zelm, Osamu Ohara, Tomohiro Morio: Mutations in Bruton's tyrosine kinase impair IgA responses. Int. J. Hematol.. 2015.03; 101 (3): 305-313. ( PubMed , DOI )

Kanako Mitsui-Sekinaka, Kohsuke Imai, Hiroki Sato, Daisuke Tomizawa, Michiko Kajiwara, Masayuki Nagasawa, Tomohiro Morio, Shigeaki Nonoyama: Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in Japan. J. Allergy Clin. Immunol.. 2015.03; 136 (4): 1018-1024. ( PubMed , DOI )

Teppei Ohkawa, Satoshi Miyamoto, Manabu Sugie, Daisuke Tomizawa, Kohsuke Imai, Masayuki Nagasawa, Tomohiro Morio, Shuki Mizutani, Masatoshi Takagi: Transient abnormal myelopoiesis in non-Down syndrome neonate. Pediatr Int. 2015.02; 57 (1): 14-17. ( PubMed , DOI )

Hikaru Ito, Kyota Fujita, Kazuhiko Tagawa, Xigui Chen, Hidenori Homma, Toshikazu Sasabe, Jun Shimizu, Shigeomi Shimizu, Takuya Tamura, Shin-ichi Muramatsu, Hitoshi Okazawa: HMGB1 facilitates repair of mitochondrial DNA damage and extends the lifespan of mutant ataxin-1 knock-in mice. EMBO Mol Med. 2015.01; 7 (1): 78-101. ( PubMed , DOI )

Yu Matsuzawa, Shigeru Oshima, Yoichi Nibe, Masanori Kobayashi, Chiaki Maeyashiki, Yasuhiro Nemoto, Takashi Nagaishi, Ryuichi Okamoto, Kiichiro Tsuchiya, Tetsuya Nakamura, Mamoru Watanabe: RIPK3 regulates p62-LC3 complex formation via the caspase-8-dependent cleavage of p62. Biochem. Biophys. Res. Commun.. 2015.01; 456 (1): 298-304. ( PubMed , DOI )

Koichi Oshima, Kohsuke Imai, Michael H Albert, Tanja C Bittner, Gabriele Strauss, Alexandra H Filipovich, Tomohiro Morio, Neena Kapoor, Jignesh Dalal, Kirk R Schultz, James T Casper, Luigi D Notarangelo, Hans D Ochs, Shigeaki Nonoyama: Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene. J. Clin. Immunol.. 2015.01; 35 (1): 15-21. ( PubMed , DOI )

Yun-Wen Chen, Tianhuan Guo, Lijun Shen, Kai-Yau Wong, Qian Tao, William W. L. Choi, Rex K. H. Au-Yeung, Yuen-Piu Chan, Michelle L. Y. Wong, Johnny C. O. Tang, Wei-Ping Liu, Gan-Di Li, Norio Shimizu, Florence Loong, Eric Tse, Yok-Lam Kwong and Gopesh Srivastava. : Receptor-type tyrosine-protein phosphatase k directly targets STAT3 activation for tumor suppression in nasal NK/T-cell lymphoma. Blood . 2015; 125 1589-1600.

Yoshimori M, Takada H, Imadome K, Kurata M, Yamamoto K, Koyama T, Shimizu N, Fujiwara S, Miura O, Arai A: P-glycoprotein is expressed and causes resistance to chemotherapy in EBV-positive T-cell lymphoproliferative diseases. Cancer Med. . 2015; 4 1494-1504.

Inazawa N, Hori T, Yamamoto M, Hatakeyama N, Yoto Y, Nojima M, Yasui H, Suzuki N, Shimizu N, Tsutsumi H. : HHV-6 encephalitis may complicate the early phase after allogeneic hematopoietic stem cell transplantation: Detection by qualitative multiplex PCR and subsequent quantitative real-time PCR. J Med Virol. 2015;

Inazawa N, Hori T, Hatakeyama N, Yamamoto M, Yoto Y, Nojima M, Suzuki N, Shimizu N, Tsutsumi H: Large-scale multiplex polymerase chain reaction assay for diagnosis of viral reactivations after allogeneic hematopoietic stem cell transplantation. J Med Virol. . 2015; 87 1427-1435.

S. Yoshida, Y. Sugimura, Y. Hazama, Y. Nishiyama, T. Yano, S. Shimizu, T.Hosoya. : A mild and facile synthesis of aryl and alkenyl sulfides via copper-catalyzed deborylthiolation of organoborons with thiosulfonates. Chemical Commun. 2015; 51 16613-16616.

S. Arakawa, I. Nakanomyo, Y. Kudo-Sakamoto, H. Akazawa, I. Komuro, S. Shimizu.: Identification of a novel compound that inhibits both mitochondria-mediated necrosis and apoptosis. Biochem. Biophys. Res. Commun. 2015; 467 1006-1011.

S. Yoshida, T. Yano, Y. Misawa, Y. Sugimura, K. Igawa, S. Shimizu, K. Tomooka, T. Hosoya. : Direct Thioamination of Arynes via Reaction with Sulfilimines and Migratory N-Arylation. J. Am. Chem. Soc. . 2015; 137 14071-14074.

Matsuda G, Imadome K, Kawano F, Mochizuki M, Ochiai N, Morio T, Shimizu N, Fujiwara S. : Cellular immunotherapy with ex vivo expanded cord blood T cells in a humanized mouse model of EBV-associated lymphoproliferative disease. Immunotherapy. Immunotherapy. . 2015; 7 335-341.

Tomohito Takimoto, Hidetoshi Takada, Masataka Ishimura, Makiko Kirino, Kenichiro Hata, Osamu Ohara, Tomohiro Morio, Toshiro Hara: Wiskott-Aldrich Syndrome in a Girl Caused by Heterozygous WASP Mutation and Extremely Skewed X-Chromosome Inactivation: A Novel Association with Maternal Uniparental Isodisomy 6. Neonatology. 2015; 107 (3): 185-190. ( PubMed , DOI )

Tae-Yoon Park, Sung-Dong Park, Jen-Young Cho, Jae-Seung Moon, Na-Yeon Kim, Kyungsoo Park, Rho Hyun Seong, Sang-Won Lee, Tomohiro Morio, Alfred L M Bothwell, Sang-Kyou Lee: RORγt-specific transcriptional interactomic inhibition suppresses autoimmunity associated with TH17 cells. Proc. Natl. Acad. Sci. U.S.A.. 2014.12; 111 (52): 18673-18678. ( PubMed , DOI )

Masaaki Mori, Masafumi Onodera, Akira Morimoto, Yoshiyuki Kosaka, Tomohiro Morio, Gerard F Notario, Shringi Sharma, Tsutomu Saji: Palivizumab use in Japanese infants and children with immunocompromised conditions. Pediatr. Infect. Dis. J.. 2014.11; 33 (11): 1183-1185. ( PubMed , DOI )

Yasuhiro Yamazaki, Masafumi Yamada, Toshinao Kawai, Tomohiro Morio, Masafumi Onodera, Masahiro Ueki, Nobuyuki Watanabe, Hidetoshi Takada, Shunichiro Takezaki, Natsuko Chida, Ichiro Kobayashi, Tadashi Ariga: Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody. J. Immunol.. 2014.11; 193 (10): 4880-4887. ( PubMed , DOI )

K Nakatani, K Imai, M Shigeno, H Sato, M Tezuka, T Okawa, N Mitsuiki, T Isoda, D Tomizawa, M Takagi, M Nagasawa, M Kajiwara, M Yamamoto, A Arai, O Miura, C Kamae, N Nakagawa, K Honma, S Nonoyama, S Mizutani, T Morio: Cord blood transplantation is associated with rapid B-cell neogenesis compared with BM transplantation. Bone Marrow Transplant.. 2014.09; 49 (9): 1155-1161. ( PubMed , DOI )

Masaaki Mori, Tomohiro Morio, Shuichi Ito, Akira Morimoto, Setsuo Ota, Koichi Mizuta, Tsutomu Iwata, Toshiro Hara, Tsutomu Saji: Risks and prevention of severe RS virus infection among children with immunodeficiency and Down's syndrome. J. Infect. Chemother.. 2014.08; 20 (8): 455-459. ( PubMed , DOI )

Akifumi Endo, Ken Watanabe, Tamae Ohye, Kyoko Suzuki, Tomoyo Matsubara, Norio Shimizu, Hiroki Kurahashi, Tetsushi Yoshikawa, Harutaka Katano, Naoki Inoue, Kohsuke Imai, Masatoshi Takagi, Tomohiro Morio, Shuki Mizutani: Molecular and Virological Evidence of Viral Activation From Chromosomally Integrated Human Herpesvirus 6A in a Patient With X-Linked Severe Combined Immunodeficiency. Clin. Infect. Dis.. 2014.08; 59 (4): 545-548. ( PubMed , DOI )

Akihiro Hoshino, Kohsuke Imai, Yusei Ohshima, Motoko Yasutomi, Masashi Kasai, Masaru Terai, Keiko Ishigaki, Tomohiro Morio, Toshio Miyawaki, Hirokazu Kanegane: Pneumothorax in patients with severe combined immunodeficiency. Pediatr Int. 2014.08; 56 (4): 510-514. ( PubMed , DOI )

Shinya Honda, Satoko Arakawa, Yuya Nishida, Hirofumi Yamaguchi, Eiichi Ishii, Shigeomi Shimizu. : Ulk1-mediated Atg5-independent macroautophagy mediates elimination of mitochondria from embryonic reticulocytes. Nature Communications. 2014.06; 5 4004.

Kei Takasawa, Makoto Ono, Atsushi Hijikata, Yohei Matsubara, Noriyuki Katsumata, Masatoshi Takagi, Tomohiro Morio, Osamu Ohara, Kenichi Kashimada, Shuki Mizutani: Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Δ5-steroids. Clin. Endocrinol. (Oxf). 2014.06; 80 (6): 782-789. ( PubMed , DOI )

Jungim Kim, Atsushi Mizokami, Minkyoung Shin, Kouji Izumi, Hiroyuki Konaka, Yoshifumi Kadono, Yasuhide Kitagawa, Evan T Keller, Jian Zhang, Mikio Namiki: SOD3 acts as a tumor suppressor in PC-3 prostate cancer cells via hydrogen peroxide accumulation. Anticancer Res.. 2014.06; 34 (6): 2821-2831. ( PubMed )

Shimizu S, Honda S, Arakawa S, Yamaguchi H: Alternative macroautophagy and mitophagy. Int J Biochem Cell Biol. 2014.05; 50 64-66. ( PubMed , DOI )

Shin Fukuda, Toshihiro Nanki, Tomohiro Morio, Hisanori Hasegawa, Ryuji Koike, Nobuyuki Miyasaka: Recurrent mitral valve regurgitation with neutrophil infiltration in a patient with multiple aseptic abscesses. Mod Rheumatol. 2014.05; 24 (3): 537-539. ( PubMed , DOI )

Kei Takasawa, Kenichi Kashimada, Emanuele Pelosi, Masatoshi Takagi, Tomohiro Morio, Hiroshi Asahara, David Schlessinger, Shuki Mizutani, Peter Koopman: FOXL2 transcriptionally represses Sf1 expression by antagonizing WT1 during ovarian development in mice. FASEB J.. 2014.05; 28 (5): 2020-2028. ( PubMed , DOI )

Setsuko Hasegawa, Kohsuke Imai, Kenichi Yoshida, Yusuke Okuno, Hideki Muramatsu, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seiji Kojima, Seishi Ogawa, Tomohiro Morio, Shuki Mizutani, Masatoshi Takagi: Whole-exome sequence analysis of ataxia telangiectasia-like phenotype. J. Neurol. Sci.. 2014.05; 340 (1-2): 86-90. ( PubMed , DOI )

Yoko Mizoguchi, Miyuki Tsumura, Satoshi Okada, Osamu Hirata, Shizuko Minegishi, Kohsuke Imai, Nobuyuki Hyakuna, Hideki Muramatsu, Seiji Kojima, Yusuke Ozaki, Takehide Imai, Sachiyo Takeda, Tetsuya Okazaki, Tsuyoshi Ito, Shin'ichiro Yasunaga, Yoshihiro Takihara, Vanessa L Bryant, Xiao-Fei Kong, Sophie Cypowyj, Stéphanie Boisson-Dupuis, Anne Puel, Jean-Laurent Casanova, Tomohiro Morio, Masao Kobayashi: Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. J. Leukoc. Biol.. 2014.04; 95 (4): 667-676. ( PubMed , DOI )

Beatriz E Marciano, Chiung-Yu Huang, Gyan Joshi, Nima Rezaei, Beatriz Costa Carvalho, Zoe Allwood, Aydan Ikinciogullari, Shereen M Reda, Andrew Gennery, Vojtech Thon, Francisco Espinosa-Rosales, Waleed Al-Herz, Oscar Porras, Anna Shcherbina, Anna Szaflarska, Şebnem Kiliç, Jose L Franco, Andrea C Gómez Raccio, Persio Roxo, Isabel Esteves, Nermeen Galal, Anete Sevciovic Grumach, Salem Al-Tamemi, Alisan Yildiran, Julio C Orellana, Masafumi Yamada, Tomohiro Morio, Diana Liberatore, Yoshitoshi Ohtsuka, Yu-Lung Lau, Ryuta Nishikomori, Carlos Torres-Lozano, Juliana T L Mazzucchelli, Maria M S Vilela, Fabiola S Tavares, Luciana Cunha, Jorge A Pinto, Sara E Espinosa-Padilla, Leticia Hernandez-Nieto, Reem A Elfeky, Tadashi Ariga, Heike Toshio, Figen Dogu, Funda Cipe, Renata Formankova, M Enriqueta Nuñez-Nuñez, Liliana Bezrodnik, Jose Gonçalo Marques, María I Pereira, Viviana Listello, Mary A Slatter, Zohreh Nademi, Danuta Kowalczyk, Thomas A Fleisher, Graham Davies, Bénédicte Neven, Sergio D Rosenzweig: BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies. J. Allergy Clin. Immunol.. 2014.04; 133 (4): 1134-1141. ( PubMed , DOI )

Shigeyoshi Fujiwara, Hiroshi Kimura, Ken-ichi Imadome, Ayako Arai, Eiichi Kodama, Tomohiro Morio, Norio Shimizu, Hiroshi Wakiguchi: Current research on chronic active Epstein-Barr virus infection in Japan. Pediatr Int. 2014.04; 56 (2): 159-166. ( PubMed , DOI )

S. Shimizu, S. Honda, S. Arakawa, H. Yamaguchi,: Alternative Macroautophagy and Mitophagy　 Int. J. Biochem. Cell Biol. . 2014.03; 50 64-66.

S. Shimizu, T. Yoshida, M. Tsujioka, S. Arakawa.: Autophagic Cell Death and Cancer. Int J Mol Sci.. 2014.02; 15 3145-3153.

U Koura, H Sakaki-Nakatsubo, K Otsubo, K Nomura, K Oshima, O Ohara, T Wada, A Yachie, K Imai, T Morio, T Miyawaki, H Kanegane: Successful treatment of systemic cytomegalovirus infection in severe combined immunodeficiency using allogeneic bone marrow transplantation followed by adoptive immunotherapy. J Investig Allergol Clin Immunol. 2014; 24 (3): 200-202. ( PubMed )

Yohei Matsubara, Tomoki Chiba, Kenichi Kashimada, Tomohiro Morio, Shuji Takada, Shuki Mizutani, Hiroshi Asahara: Transcription activator-like effector nuclease-mediated transduction of exogenous gene into IL2RG locus. Sci Rep. 2014; 4 5043. ( PubMed , DOI )

Sanami Takada, Yaei Togawa, Seiichiro Wakabayashi, Naotomo Kambe, Hiroyuki Matsue: Dermoscopic findings in eruptive vellus hair cysts: A case report Austin Journal of Dermatology. 2014; (1): 2.

Satoru Torii, Kohei Sakaki, Miki Otomo, Kyohei Saka, Ken-ichi Yasumoto, Kazuhiro Sogawa: Nucleocytoplasmic shuttling of IPAS by its unique nuclear import and export signals unshared with other HIF-3α splice variants. Journal of Biochemistry. 2013.12; 154 (6): 561-567. ( PubMed , DOI )

Masayuki Nagasawa, Teppei Ohkawa, Akifumi Endo, Noriko Mitsuiki, Toshiaki Ono, Yuki Aoki, Takeshi Isoda, Daisuke Tomizawa, Masatoshi Takagi, Michiko Kajiwara, Tomohiro Morio, Shuki Mizutani: Early coagulation disorder after allogeneic stem cell transplantation is a strong prognostic factor for transplantation-related mortality, and intervention with recombinant human thrombomodulin improves the outcome: a single-center experience. Int. J. Hematol.. 2013.11; 98 (5): 533-542. ( PubMed , DOI )

Mitsuo Ofude, Atsushi Mizokami, Misako Kumaki, Kouji Izumi, Hiroyuki Konaka, Yoshifumi Kadono, Yasuhide Kitagawa, Minkyoung Shin, Jian Zhang, Evan T Keller, Mikio Namiki: Repression of cell proliferation and androgen receptor activity in prostate cancer cells by 2'-hydroxyflavanone. Anticancer Res.. 2013.10; 33 (10): 4453-4461. ( PubMed )

Satoru Kumaki, Yoji Sasahara, Yoshiro Kamachi, Hideki Muramatsu, Tomohiro Morio, Kumiko Goi, Kanji Sugita, Tomonari Urabe, Hidetoshi Takada, Seiji Kojima, Shigeru Tsuchiya, Toshirou Hara: B-cell function after unrelated umbilical cord blood transplantation using a minimal-intensity conditioning regimen in patients with X-SCID. Int. J. Hematol.. 2013.09; 98 (3): 355-360. ( PubMed , DOI )

Sunao Sugita, Manabu Ogawa, Norio Shimizu, Tomohiro Morio, Nobuyuki Ohguro, Kei Nakai, Kazuichi Maruyama, Kenji Nagata, Atsunobu Takeda, Yoshihiko Usui, Koh-Hei Sonoda, Masaru Takeuchi, Manabu Mochizuki: Use of a comprehensive polymerase chain reaction system for diagnosis of ocular infectious diseases. Ophthalmology. 2013.09; 120 (9): 1761-1768. ( PubMed , DOI )

Shizuka Machida, Daisuke Tomizawa, Hiroyuki Tamaichi, Teppei Okawa, Akifumi Endo, Kohsuke Imai, Masayuki Nagasawa, Tomohiro Morio, Shuki Mizutani, Masatoshi Takagi: Successful treatment of diffuse large B-cell lymphoma in a patient with ataxia telangiectasia using rituximab. J. Pediatr. Hematol. Oncol.. 2013.08; 35 (6): 482-485. ( PubMed , DOI )

Minkyoung Shin, Atsushi Mizokami, Jungim Kim, Mitsuo Ofude, Hiroyuki Konaka, Yoshifumi Kadono, Yasuhide Kitagawa, Sotaro Miwa, Misako Kumaki, Evan T Keller, Mikio Namiki: Exogenous SPARC suppresses proliferation and migration of prostate cancer by interacting with integrin β1. Prostate. 2013.08; 73 (11): 1159-1170. ( PubMed , DOI )

Junya Unno, Masatoshi Takagi, Jinhua Piao, Masataka Sugimoto, Fumiko Honda, Daisuke Maeda, Mitsuko Masutani, Tohru Kiyono, Fumiaki Watanabe, Tomohiro Morio, Hirobumi Teraoka, Shuki Mizutani: Artemis-dependent DNA double-strand break formation at stalled replication forks. Cancer Sci.. 2013.06; 104 (6): 703-710. ( PubMed , DOI )

Juhász G, Puertollano R, Shimizu S, Vaccaro MI: Autophagy researchers. Autophagy. 2013.06; 9 (6): 815-8. ( PubMed , DOI )

Ayami Yoshimi, Yoshiro Kamachi, Kosuke Imai, Nobuhiro Watanabe, Hisaya Nakadate, Takashi Kanazawa, Shuichi Ozono, Ryoji Kobayashi, Misa Yoshida, Chie Kobayashi, Asahito Hama, Hideki Muramatsu, Yoji Sasahara, Marcus Jakob, Tomohiro Morio, Stephan Ehl, Atsushi Manabe, Charlotte Niemeyer, Seiji Kojima: Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia. Pediatr Blood Cancer. 2013.05; 60 (5): 836-841. ( PubMed , DOI )

Taizo Wada, Masahiro Muraoka, Tomoko Toma, Tsuyoshi Imai, Tomonari Shigemura, Kazunaga Agematsu, Kohei Haraguchi, Hiroyuki Moriuchi, Tsutomu Oh-Ishi, Toshiyuki Kitoh, Osamu Ohara, Tomohiro Morio, Akihiro Yachie: Rapid detection of intracellular p47phox and p67phox by flow cytometry; useful screening tests for chronic granulomatous disease. J. Clin. Immunol.. 2013.05; 33 (4): 857-864. ( PubMed , DOI )

Takeshi Isoda, Noriko Mitsuiki, Teppei Ohkawa, Setsuko Kaneko, Akifumi Endo, Toshiaki Ono, Yuki Aoki, Daisuke Tomizawa, Michiko Kajiwara, Satoshi Araki, Masayuki Nagasawa, Tomohiro Morio, Masatoshi Takagi, Shuki Mizutani: Irreversible leukoencephalopathy after reduced-intensity stem cell transplantation in a dyskeratosis congenita patient with TINF2 mutation. J. Pediatr. Hematol. Oncol.. 2013.05; 35 (4): e178-e182. ( PubMed , DOI )

Chikako Kamae, Noriko Nakagawa, Hiroki Sato, Kenichi Honma, Noriko Mitsuiki, Osamu Ohara, Hirokazu Kanegane, Srdjan Pasic, Qiang Pan-Hammarström, Menno C van Zelm, Tomohiro Morio, Kohsuke Imai, Shigeaki Nonoyama: Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles. J. Allergy Clin. Immunol.. 2013.05; 131 (5): 1437-40.e5. ( PubMed , DOI )

T. Mizushima, S. Arakawa, Y. Sanada, I. Yoshino, D. Miyazaki, H. Urushima, Y. Tsujimoto, T. Ito, S.Shimizu : Inhibition of epithelial cell death by Bcl-2 improved chronic colitis in IL10 KO mice American J Pathology. 2013.04; 183 1936-1944.

Tae-Yoon Park, Seung-Hyung Kim, Yoon-Chul Shin, Nae-Hyun Lee, Rae-Kyung Christina Lee, Jae-Hyuck Shim, Laurie H Glimcher, Inhee Mook-Jung, Eunji Cheong, Won-Ki Kim, Fumiko Honda, Tomohiro Morio, Jong-Soon Lim, Sang-Kyou Lee: Amelioration of neurodegenerative diseases by cell death-induced cytoplasmic delivery of humanin. J Control Release. 2013.03; 166 (3): 307-315. ( PubMed , DOI )

Chie Miyabe, Yoshishige Miyabe, Noriko N Miura, Kei Takahashi, Yuya Terashima, Etsuko Toda, Fumiko Honda, Tomohiro Morio, Naoko Yamagata, Naohito Ohno, Koichi Shudo, Jun-ichi Suzuki, Mitsuaki Isobe, Kouji Matsushima, Ryoji Tsuboi, Nobuyuki Miyasaka, Toshihiro Nanki: Am80, a retinoic acid receptor agonist, ameliorates murine vasculitis through the suppression of neutrophil migration and activation. Arthritis Rheum.. 2013.02; 65 (2): 503-512. ( PubMed , DOI )

Masaki Shimizu, Hirokazu Kanegane, Taizo Wada, Yaeko Motoyoshi, Tomohiro Morio, Fabio Candotti, Akihiro Yachie: Aberrant glycosylation of IgA in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. J. Allergy Clin. Immunol.. 2013.02; 131 (2): 587-90.e1. ( PubMed , DOI )

Yukako Kawasaki, Hidemi Toyoda, Shoichiro Otsuki, Tadashi Iwasa, Shotaro Iwamoto, Eiichi Azuma, Naomi Itoh-Habe, Hideo Wada, Yoshihiro Fujimura, Tomohiro Morio, Kohsuke Imai, Noriko Mitsuiki, Osamu Ohara, Yoshihiro Komada: A novel Wiskott-Aldrich syndrome protein mutation in an infant with thrombotic thrombocytopenic purpura. Eur. J. Haematol.. 2013.02; 90 (2): 164-168. ( PubMed , DOI )

Zen Kobayashi, Miho Akaza, Yoshiyuki Numasawa, Shoichiro Ishihara, Hiroyuki Tomimitsu, Kazuo Nakamichi, Masayuki Saijo, Tomohiro Morio, Norio Shimizu, Nobuo Sanjo, Shuzo Shintani, Hidehiro Mizusawa: Failure of mefloquine therapy in progressive multifocal leukoencephalopathy: report of two Japanese patients without human immunodeficiency virus infection. J. Neurol. Sci.. 2013.01; 324 (1-2): 190-194. ( PubMed , DOI )

Yamamoto A, Morio T, Kumaki E, Yamazaki H, Iwai H, Kubota T, Miyasaka N, Kohsaka H: A Case of Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome Accompanied by Nephrosclerosis, Splenomegaly and Intestinal Lesions. J Genet Syndr Gene Ther. . 2013; 4 e9.

I. Nakase, S. Okumura, S. Katayama, H. Hirose, S. Pujals, H. Yamaguchi, S. Arakawa, S. Shimizu, S. Futaki: Transformation of an antimicrobial peptide into a plasma membrane-permeable, mitochondria-targeted peptide via the substitution of lysine with arginine Chemical Communications. 2012.10; 48 11097-11099.

Takafumi Nozaki, Hidetoshi Takada, Masataka Ishimura, Kenji Ihara, Kohsuke Imai, Tomohiro Morio, Masao Kobayashi, Shigeaki Nonoyama, Toshiro Hara: Endocrine complications in primary immunodeficiency diseases in Japan. Clin. Endocrinol. (Oxf). 2012.10; 77 (4): 628-634. ( PubMed , DOI )

Y. Miyaoka, K. Ebato, H. Kato, S. Arakawa, S. Shimizu, A. Miyajima. : Hypertrophy and unconventional cell division of hepatocytes underlie liver regeneration. Current Biology. 2012.09; 22 1166-1175.

M. Fukamatsu, M. Ogawa, S. Arakawa, H. Ashida, M. Suzuki, M. Furuse, K. Nakayama, S. Shimizu, M. Kin, H. Mimuro, C. Sasakawa. : Shigella targets epithelial tricellular junctions to spread between cells via a noncanonical clathrin-dependent endocytic pathway. Cell Host Microbe.. 2012.09; 11 325-336.

Yoshiko Uchida, Kousaku Matsubara, Tamaki Wada, Kazunori Oishi, Tomohiro Morio, Hidetoshi Takada, Aya Iwata, Kazuo Yura, Katsunori Kamimura, Hiroyuki Nigami, Takashi Fukaya: Recurrent bacterial meningitis by three different pathogens in an isolated asplenic child. J. Infect. Chemother.. 2012.08; 18 (4): 576-580. ( PubMed , DOI )

Takeshi Isoda, Masatoshi Takagi, Jinhua Piao, Shun Nakagama, Masaki Sato, Kyoko Masuda, Tomokatsu Ikawa, Miyuki Azuma, Tomohiro Morio, Hiroshi Kawamoto, Shuki Mizutani: Process for immune defect and chromosomal translocation during early thymocyte development lacking ATM. Blood. 2012.07; 120 (4): 789-799. ( PubMed , DOI )

A. Konishi, S. Arakawa, Z. Yue, and S. Shimizu. : Involvement of Beclin 1 in the engulfment of apoptotic cells. J. Biol. Chem.. 2012.05; 287 13919-13929.

Fukumatsu M, Ogawa M, Arakawa S, Suzuki M, Nakayama K, Shimizu S, Kim M, Mimuro H, Sasakawa C: Shigella targets epithelial tricellular junctions and uses a noncanonical clathrin-dependent endocytic pathway to spread between cells. Cell Host Microbe. 2012.04; 11 (4): 325-336. ( PubMed , DOI )

Yoshiko Uchida, Kousaku Matsubara, Tomohiro Morio, Yu Kawasaki, Aya Iwata, Kazuo Yura, Katsunori Kamimura, Hiroyuki Nigami, Takashi Fukaya: Acute cerebellitis and concurrent encephalitis associated with parvovirus B19 infection. Pediatr. Infect. Dis. J.. 2012.04; 31 (4): 427. ( PubMed , DOI )

Keisuke Nakajima, Masaharu Hayashi, Naoyuki Tanuma, Tomohiro Morio: An autopsy case of polymicrogyria and intracerebral calcification with death by intracerebral hemorrhage. Neuropathology. 2012.04; 32 (2): 207-210. ( PubMed , DOI )

Konishi A, Arakawa S, Yue Z, Shimizu S: Involvement of Beclin 1 in engulfment of apoptotic cells. The Journal of biological chemistry. 2012.04; 287 (17): 13919-29. ( PubMed , DOI )

Honda Fumiko, Kano Hirotsugu, Kanegane Hirokazu, Nonoyama Shigeaki, Kim Eun-Sung, Lee Sang-Kyou, Takagi Masatoshi, Mizutani Shuki, Morio Tomohiro: The kinase Btk negatively regulates the production of reactive oxygen species and stimulation-induced apoptosis in human neutrophils. Nat Immunol. 2012.04; 13 (4): 369-378. ( PubMed , DOI )

Y. Yoshioka, S. Shimizu, T. Ito, M. Taniguchi, M. Nomura, T. Nishida, Y. Sawa. : p53 Inhibits Vascular Endothelial Growth Factor Expression in Solid Tumor. J Surg Res. . 2012.03; 174 291-297.

Rikiya Sato, Susumu Iiizumi, Eun-Sung Kim, Fumiko Honda, Sang-Kyou Lee, Noritaka Adachi, Hideki Koyama, Shuki Mizutani, Tomohiro Morio: Impaired cell adhesion, apoptosis, and signaling in WASP gene-disrupted Nalm-6 pre-B cells and recovery of cell adhesion using a transducible form of WASp. Int. J. Hematol.. 2012.03; 95 (3): 299-310. ( PubMed , DOI )

Madoka Kuramitsu, Aiko Sato-Otsubo, Tomohiro Morio, Masatoshi Takagi, Tsutomu Toki, Kiminori Terui, RuNan Wang, Hitoshi Kanno, Shouichi Ohga, Akira Ohara, Seiji Kojima, Toshiyuki Kitoh, Kumiko Goi, Kazuko Kudo, Tadashi Matsubayashi, Nobuo Mizue, Michio Ozeki, Atsuko Masumi, Haruka Momose, Kazuya Takizawa, Takuo Mizukami, Kazunari Yamaguchi, Seishi Ogawa, Etsuro Ito, Isao Hamaguchi: Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia. Blood. 2012.03; 119 (10): 2376-2384. ( PubMed , DOI )

Sang-Won Lee, Ji-Hye Kim, Min-Chan Park, Yong-Beom Park, Wook Jin Chae, Tomohiro Morio, Dong-Ho Lee, Sang-Hwa Yang, Seung-Kyou Lee, Soo-Kon Lee, Sang-Kyou Lee: Alleviation of rheumatoid arthritis by cell-transducible methotrexate upon transcutaneous delivery. Biomaterials. 2012.02; 33 (5): 1563-1572. ( PubMed , DOI )

Sung Hee Jang, Joo Weon Lim, Tomohiro Morio, Hyeyoung Kim: Lycopene inhibits Helicobacter pylori-induced ATM/ATR-dependent DNA damage response in gastric epithelial AGS cells. Free Radic. Biol. Med.. 2012.02; 52 (3): 607-615. ( PubMed , DOI )

Kotoka Nakamura, Liutao Du, Rashmi Tunuguntla, Francesca Fike, Simona Cavalieri, Tomohiro Morio, Shuki Mizutani, Alfredo Brusco, Richard A Gatti: Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. Hum. Mutat.. 2012.01; 33 (1): 198-208. ( PubMed , DOI )

Fumiko Honda, Yumiko Hane, Tomoko Toma, Akihiro Yachie, Eun-Sung Kim, Sang-Kyou Lee, Masatoshi Takagi, Shuki Mizutani, Tomohiro Morio: Transducible form of p47phox and p67phox compensate for defective NADPH oxidase activity in neutrophils of patients with chronic granulomatous disease. Biochem. Biophys. Res. Commun.. 2012.01; 417 (1): 162-168. ( PubMed , DOI )

Masataka Ishimura, Hidetoshi Takada, Takehiko Doi, Kousuke Imai, Yoji Sasahara, Hirokazu Kanegane, Ryuta Nishikomori, Tomohiro Morio, Toshio Heike, Masao Kobayashi, Tadashi Ariga, Shigeru Tsuchiya, Shigeaki Nonoyama, Toshio Miyawaki, Toshiro Hara: Nationwide survey of patients with primary immunodeficiency diseases in Japan. J. Clin. Immunol.. 2011.12; 31 (6): 968-976. ( PubMed , DOI )

Yusuke Hiwatashi, Kohei Kanno, Chikahisa Takasaki, Kenji Goryo, Takuya Sato, Satoru Torii, Kazuhiro Sogawa, Ken-ichi Yasumoto: PHD1 interacts with ATF4 and negatively regulates its transcriptional activity without prolyl hydroxylation. Experimental Cell Research. 2011.12; 317 (20): 2789-2799. ( PubMed , DOI )

S Torii, Y Goto, T Ishizawa, H Hoshi, K Goryo, K Yasumoto, H Fukumura, K Sogawa: Pro-apoptotic activity of inhibitory PAS domain protein (IPAS), a negative regulator of HIF-1, through binding to pro-survival Bcl-2 family proteins. Cell Death and Differentiation. 2011.11; 18 (11): 1711-1725. ( PubMed , DOI )

Keisuke Kato, Yasuko Kojima, Chie Kobayashi, Kazumasa Mitsui, Ryoko Nakajima-Yamaguchi, Kazuko Kudo, Toshihiro Yanai, Ai Yoshimi, Tomohei Nakao, Tomohiro Morio, Mureo Kasahara, Kazutoshi Koike, Masahiro Tsuchida: Successful allogeneic hematopoietic stem cell transplantation for chronic granulomatous disease with inflammatory complications and severe infection. Int. J. Hematol.. 2011.11; 94 (5): 479-482. ( PubMed , DOI )

Ken-ichi Imadome, Misako Yajima, Ayako Arai, Atsuko Nakazawa, Fuyuko Kawano, Sayumi Ichikawa, Norio Shimizu, Naoki Yamamoto, Tomohiro Morio, Shouichi Ohga, Hiroyuki Nakamura, Mamoru Ito, Osamu Miura, Jun Komano, Shigeyoshi Fujiwara: Novel mouse xenograft models reveal a critical role of CD4+ T cells in the proliferation of EBV-infected T and NK cells. PLoS Pathog.. 2011.10; 7 (10): e1002326. ( PubMed , DOI )

Kenji Goryo, Satoru Torii, Ken-Ichi Yasumoto, Kazuhiro Sogawa: Tumour necrosis factor-α suppresses the hypoxic response by NF-κB-dependent induction of inhibitory PAS domain protein in PC12 cells. Journal of Biochemistry. 2011.09; 150 (3): 311-318. ( PubMed , DOI )

Tomohiro Morio, Yoshiko Atsuta, Daisuke Tomizawa, Tokiko Nagamura-Inoue, Koji Kato, Tadashi Ariga, Keisei Kawa, Kazutoshi Koike, Hisamichi Tauchi, Michiko Kajiwara, Toshiro Hara, Shunichi Kato, : Outcome of unrelated umbilical cord blood transplantation in 88 patients with primary immunodeficiency in Japan. Br. J. Haematol.. 2011.08; 154 (3): 363-372. ( PubMed , DOI )

T. Yamasaki, H. Kawasaki, S. Arakawa, K. Shimizu, S. Shimizu, O. Reiner, H. Okano, S. Nishina, N. Azuma, J.M. Penninger, T. Katada and H Nishina. : Stress-activated protein kinase MKK7 regulates axon elongation in the developing cerebral cortex Journal of Neuroscience.. 2011.06; 31 16872-16883.

M. Narita, A.R.J. Young, S. Arakawa, S.A. Samarajiwa, T. Nakashima, S. Yoshida, S.K. Hong, L.S. Berry, S. Reichelt, M. Ferreira, S. Tavaré, K. Inoki, S. Shimizu, and M. Narita. : Spatial coupling of mTOR and autophagy augments secretory phenotypes Science. 2011.05; 332 966-970.

Min Kyoung Shin, Young Hoon Jang, Hyun Jung Yoo, Dong Woo Kang, Mi Hee Park, Mi Kyoung Kim, Ju Hyun Song, Sang Doo Kim, Gyesik Min, Hyung Keun You, Kang-Yell Choi, Yoe-Sik Bae, Do Sik Min: N-formyl-methionyl-leucyl-phenylalanine (fMLP) promotes osteoblast differentiation via the N-formyl peptide receptor 1-mediated signaling pathway in human mesenchymal stem cells from bone marrow. J. Biol. Chem.. 2011.05; 286 (19): 17133-17143. ( PubMed , DOI )

Masatoshi Takagi, Kunihiro Shinoda, Jinhua Piao, Noriko Mitsuiki, Mari Takagi, Kazuyuki Matsuda, Hideki Muramatsu, Sayoko Doisaki, Masayuki Nagasawa, Tomohiro Morio, Yoshihito Kasahara, Kenichi Koike, Seiji Kojima, Akira Takao, Shuki Mizutani: Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation. Blood. 2011.03; 117 (10): 2887-2890. ( PubMed , DOI )

H. Hikita, T. Takehara, T. Kodama, S. Shimizu, M. Shigekawa, A. Hosui, T. Miyagi, T. Tatsumi, H. Ishida, Li W, T. Kanto, N. Hiramatsu, S. Shimizu, Y. Tsujimoto, N. Hayashi.: Delayed-onset caspase-dependent massive hepatocyte apoptosis upon Fas activation in Bak/Bax-deficient mice Hepatology. 2011.03; 54 240-251.

Erika Asai, Taizo Wada, Yasuhisa Sakakibara, Akiko Toga, Tomoko Toma, Takashi Shimizu, Sheela Nampoothiri, Kohsuke Imai, Shigeaki Nonoyama, Tomohiro Morio, Hideki Muramatsu, Yoshiro Kamachi, Osamu Ohara, Akihiro Yachie: Analysis of mutations and recombination activity in RAG-deficient patients. Clin. Immunol.. 2011.02; 138 (2): 172-177. ( PubMed , DOI )

Satoru Torii, Atsushi Kurihara, Xian Yu Li, Ken-ichi Yasumoto, Kazuhiro Sogawa: Inhibitory effect of extracellular histidine on cobalt-induced HIF-1alpha expression. Journal of Biochemistry. 2011.02; 149 (2): 171-176. ( PubMed , DOI )

Kamiya K, Tsumoto K, Arakawa S, Shimizu S, Morita I, Yoshimura T, Akiyoshi K: Preparation of connexin43-integrated giant Liposomes by a baculovirus expression-liposome fusion method. Biotechnol Bioeng. 2010.12; 107 (5): 836-843. ( PubMed , DOI )

Yoshida T, Mizuta T, Shimizu S: Neurodegeneration in mnd2 mutant mice is not prevented by parkin transgene. Biochem Biophys Res Commun. 2010.11; 402 (4): 676-679. ( PubMed , DOI )

Min-Jung Shin, Jae-Hyuck Shim, Jae-Young Lee, Wook-Jin Chae, Heung-Kyu Lee, Tomohiro Morio, Jun Han Park, Eun-Ju Chang, Sang-Kyou Lee: Qualitative and quantitative differences in the intensity of Fas-mediated intracellular signals determine life and death in T cells. Int. J. Hematol.. 2010.09; 92 (2): 262-270. ( PubMed , DOI )

Mitsuru Seki, Hirokazu Kimura, Akio Mori, Akira Shimada, Yoshiyuki Yamada, Kenichi Maruyama, Yasuhide Hayashi, Kazunaga Agematsu, Tomohiro Morio, Akihiro Yachie, Masahiko Kato: Prominent eosinophilia but less eosinophil activation in a patient with Omenn syndrome. Pediatr Int. 2010.08; 52 (4): e196-e199. ( PubMed , DOI )

Hirosuke Inoue, Hidetoshi Takada, Takeshi Kusuda, Takako Goto, Masayuki Ochiai, Tadamune Kinjo, Jun Muneuchi, Yasushi Takahata, Naomi Takahashi, Tomohiro Morio, Kenjiro Kosaki, Toshiro Hara: Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism. Eur. J. Pediatr.. 2010.07; 169 (7): 839-844. ( PubMed , DOI )

Okamoto K, Iwai Y, Oh-Hora M, Yamamoto M, Morio T, Aoki K, Ohya K, Jetten AM, Akira S, Muta T, Takayanagi H: IkappaBzeta regulates T(H)17 development by cooperating with ROR nuclear receptors. Nature. 2010.04; 464 (7293): 1381-1385. ( PubMed , DOI )

Daiju Oba, Masaharu Hayashi, Motoyuki Minamitani, Shinichiro Hamano, Naoki Uchisaka, Akira Kikuchi, Hiroshi Kishimoto, Masatoshi Takagi, Tomohiro Morio, Shuki Mizutani: Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder. Acta Neuropathol.. 2010.04; 119 (4): 513-520. ( PubMed , DOI )

Michael H Albert, Tanja C Bittner, Shigeaki Nonoyama, Lucia Dora Notarangelo, Siobhan Burns, Kohsuke Imai, Teresa Espanol, Anders Fasth, Isabelle Pellier, Gabriele Strauss, Tomohiro Morio, Benjamin Gathmann, Jeroen G Noordzij, Cristina Fillat, Manfred Hoenig, Michaela Nathrath, Alfons Meindl, Philipp Pagel, Uwe Wintergerst, Alain Fischer, Adrian J Thrasher, Bernd H Belohradsky, Hans D Ochs: X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood. 2010.04; 115 (16): 3231-3238. ( PubMed , DOI )

Nabeyama A, Kurita A, Asano K, Miyake Y, Yasuda T, Miura I, Nishitai G, Arakawa S, Shimizu S, Wakana S, Yoshida H, Tanaka M: xCT deficiency accelerates chemically induced tumorigenesis. Proc Natl Acad Sci USA. 2010.04; 107 (14): 6436-6441. ( PubMed , DOI )

Shimizu S, Konishi A, Nishida Y, Mizuta T, Nishina H, Yamamoto A, Tsujimoto Y: Involvement of JNK in the regulation of autophagic cell death. Oncogene. 2010.04; 29 (14): 2070-2082. ( PubMed , DOI )

Masaru Miyanaga, Sunao Sugita, Norio Shimizu, Tomohiro Morio, Kazunori Miyata, Kazuichi Maruyama, Shigeru Kinoshita, Manabu Mochizuki: A significant association of viral loads with corneal endothelial cell damage in cytomegalovirus anterior uveitis. Br J Ophthalmol. 2010.03; 94 (3): 336-340. ( PubMed , DOI )

Ideguchi K, Shimizu S, Okumura M, Tsujimoto Y: Cyclophilin D-dependent mitochondrial permeability transition is not involved in neurodegeneration in mnd2 mutant mice. Biochem Biophys Res Commun. 2010.03; 393 (2): 264-267. ( PubMed , DOI )

Yosuke Tomokuni, Kenji Goryo, Ayako Katsura, Satoru Torii, Ken-ichi Yasumoto, Klaus Kemnitz, Mamiko Takada, Hiroshi Fukumura, Kazuhiro Sogawa: Loose interaction between glyceraldehyde-3-phosphate dehydrogenase and phosphoglycerate kinase revealed by fluorescence resonance energy transfer-fluorescence lifetime imaging microscopy in living cells. FEBS Journal. 2010.03; 277 (5): 1310-1318. ( PubMed , DOI )

Takayuki Satoh, Satoru Torii, Kei Nakayama, Eisuke Nishida: CrkL is a novel target of Sprouty2 in fibroblast growth factor signaling. Genes to Cells. 2010.03; 15 (3): 161-168. ( PubMed , DOI )

Shimizu S, Arakawa S, Nishida Y: Autophagy takes an alternative pathway. Autophagy. 2010.02; 6 (2): 290-291. ( PubMed )

Mouri A, Noda Y, Shimizu S, Tsujimoto Y, Nabeshima T: The role of cyclophilin D in learning and memory. Hippocampus. 2010.02; 20 (2): 293-304. ( PubMed , DOI )

Mia Kim, Changjong Moon, Heechul Kim, Min Kyoung Shin, Do Sik Min, Taekyun Shin: Developmental levels of phospholipase D isozymes in the brain of developing rats. Acta Histochem.. 2010.01; 112 (1): 81-91. ( PubMed , DOI )

Yoichi Morinishi, Kohsuke Imai, Noriko Nakagawa, Hiroki Sato, Katsuyuki Horiuchi, Yoshitoshi Ohtsuka, Yumi Kaneda, Takashi Taga, Hiroaki Hisakawa, Ryosuke Miyaji, Mikiya Endo, Tsutomu Oh-Ishi, Yoshiro Kamachi, Koshi Akahane, Chie Kobayashi, Masahiro Tsuchida, Tomohiro Morio, Yoji Sasahara, Satoru Kumaki, Keiko Ishigaki, Makoto Yoshida, Tomonari Urabe, Norimoto Kobayashi, Yuri Okimoto, Janine Reichenbach, Yoshiko Hashii, Yoichiro Tsuji, Kazuhiro Kogawa, Seiji Yamaguchi, Hirokazu Kanegane, Toshio Miyawaki, Masafumi Yamada, Tadashi Ariga, Shigeaki Nonoyama: Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards. J. Pediatr.. 2009.12; 155 (6): 829-833. ( PubMed , DOI )

Daiichiro Hasegawa, Michiko Kaji, Hiroki Takeda, Keiichiro Kawasaki, Hironobu Takahashi, Hiroshi Ochiai, Tomohiro Morio, Yasuhiro Omori, Hiroshi Yokozaki, Yoshiyuki Kosaka: Fatal degeneration of specialized cardiac muscle associated with chronic active Epstein-Barr virus infection. Pediatr Int. 2009.12; 51 (6): 846-848. ( PubMed , DOI )

Satoru Torii, Norikazu Okamura, Yohei Suzuki, Toshiyuki Ishizawa, Ken-Ichi Yasumoto, Kazuhiro Sogawa: Cyclic AMP represses the hypoxic induction of hypoxia-inducible factors in PC12 cells. Journal of Biochemistry. 2009.12; 146 (6): 839-844. ( PubMed , DOI )

Yoshitaka Miyagawa, Nobutaka Kiyokawa, Nakaba Ochiai, Ken-ichi Imadome, Yasuomi Horiuchi, Keiko Onda, Misako Yajima, Hiroyuki Nakamura, Yohko U Katagiri, Hajime Okita, Tomohiro Morio, Norio Shimizu, Junichiro Fujimoto, Shigeyoshi Fujiwara: Ex vivo expanded cord blood CD4 T lymphocytes exhibit a distinct expression profile of cytokine-related genes from those of peripheral blood origin. Immunology. 2009.11; 128 (3): 405-419. ( PubMed , DOI )

Tomohiro Morio, Naomi Takahashi, Fumiaki Watanabe, Fumiko Honda, Masaki Sato, Masatoshi Takagi, Ken-ichi Imadome, Toshio Miyawaki, Domenico Delia, Kotoka Nakamura, Richard A Gatti, Shuki Mizutani: Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan. Int. J. Hematol.. 2009.11; 90 (4): 455-462. ( PubMed , DOI )

Takeshi Isoda, Anthony M Ford, Daisuke Tomizawa, Frederik W van Delft, David Gonzalez De Castro, Norkio Mitsuiki, Joannah Score, Tomohiko Taki, Tomohiro Morio, Masatoshi Takagi, Hiroh Saji, Mel Greaves, Shuki Mizutani: Immunologically silent cancer clone transmission from mother to offspring. Proc. Natl. Acad. Sci. U.S.A.. 2009.10; 106 (42): 17882-17885. ( PubMed , DOI )

Nishida Y, Arakawa S, Fujitani K, Yamaguchi H, Mizuta T, Kanaseki T, Komatsu M, Otsu K, Tsujimoto Y, Shimizu S: Discovery of Atg5/Atg7-independent alternative macroautophagy. Nature. 2009.10; 461 (7264): 654-658. ( PubMed , DOI )

Yamagata H, Shimizu S, Nishida Y, Watanabe Y, Craigen WJ, Tsujimoto Y: Requirement of voltage-dependent anion channel 2 for pro-apoptotic activity of Bax. Oncogene. 2009.10; 28 (40): 3563-3572. ( PubMed , DOI )

Shimada H, Hirai K, Simamura E, Hatta T, Iwakiri H, Mizuki K, Hatta T, Sawasaki T, Matsunaga S, Endo Y, Shimizu S: Paraquat toxicity induced by voltage-dependent anion channel 1 acts as an NADH-dependent oxidoreductase. J Biol Chem. 2009.10; 284 (42): 28642-28649. ( PubMed , DOI )

Ayako Katsura, Kota Kimura, Kentaro Hosoi, Yosuke Tomokuni, Masanori Nesori, Kenji Goryo, Keiko Numayama-Tsuruta, Satoru Torii, Ken-Ichi Yasumoto, Osamu Gotoh, Mamiko Takada, Hiroshi Fukumura, Kazuhiro Sogawa: Transactivation activity of LBP-1 proteins and their dimerization in living cells. Genes to Cells. 2009.10; 14 (10): 1183-1196. ( PubMed , DOI )

Naoki Uchisaka, Naomi Takahashi, Masaki Sato, Akira Kikuchi, Shinji Mochizuki, Kohsuke Imai, Shigeaki Nonoyama, Osamu Ohara, Fumiaki Watanabe, Shuki Mizutani, Ryoji Hanada, Tomohiro Morio: Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. J. Pediatr.. 2009.09; 155 (3): 435-438. ( PubMed , DOI )

Satoru Torii, Kentaro Kobayashi, Masayuki Takahashi, Kasumi Katahira, Kenji Goryo, Natsuki Matsushita, Ken-Ichi Yasumoto, Yoshiaki Fujii-Kuriyama, Kazuhiro Sogawa: Magnesium deficiency causes loss of response to intermittent hypoxia in paraganglion cells. Journal of Biological Chemistry. 2009.07; 284 (28): 19077-19089. ( PubMed , DOI )

Hisao Yoshida, Shigenori Kusuki, Yoshiko Hashii, Hideaki Ohta, Tomohiro Morio, Keiichi Ozono: Ex vivo-expanded donor CD4(+) lymphocyte infusion against relapsing neuroblastoma: A transient graft-versus-tumor effect. Pediatr Blood Cancer. 2009.07; 52 (7): 895-897. ( PubMed , DOI )

Kato M, Akao M, Matsumoto-Ida M, Makiyama T, Iguchi M, Takeda T, Shimizu S, Kita T: The targeting of cyclophilin D by RNAi as a novel cardioprotective therapy: evidence from two-photon imaging. Cardiovascular research. 2009.07; 83 (2): 335-44. ( PubMed , DOI )

Changjong Moon, Jinwoo Jeong, Min Kyoung Shin, Do Sik Min, Taekyun Shin: Expression of phospholipase D isozymes in mouse lungs during postnatal development. J. Vet. Med. Sci.. 2009.07; 71 (7): 965-968. ( PubMed )

Naomi Takahashi, Kenji Matsumoto, Hirohisa Saito, Toshihiro Nanki, Nobuyuki Miyasaka, Tetsuji Kobata, Miyuki Azuma, Sang-Kyou Lee, Shuki Mizutani, Tomohiro Morio: Impaired CD4 and CD8 effector function and decreased memory T cell populations in ICOS-deficient patients. J. Immunol.. 2009.05; 182 (9): 5515-5527. ( PubMed , DOI )

Ken-ichi Yasumoto, Yusuke Kowata, Atsushi Yoshida, Satoru Torii, Kazuhiro Sogawa: Role of the intracellular localization of HIF-prolyl hydroxylases. Biochimica et Biophysica Acta -Molecular Cell Research. 2009.05; 1793 (5): 792-797. ( PubMed , DOI )

Young AR, Narita M, Ferreira M, Kirschner K, Sadaie M, Darot JF, Tavaré S, Arakawa S, Shimizu S, Watt FM, Narita M: Autophagy mediates the mitotic senescence transition. Genes Dev. 2009.04; 23 (7): 798-803. ( PubMed , DOI )

所正治, Hussein Amjad I.A., 田中身和, 山口智博, 森尾友宏, 佐藤隆介, 水谷修紀: 免疫低下に伴うMAC感染症に合併した呼吸器クリプトスポリジウム症の1例 Clinical Parasitology. 2009.02; 19 (1): 55-58. ( ichushi )

M Honda, M Takagi, L Chessa, T Morio, S Mizuatni: Rapid diagnosis of ataxia-telangiectasia by flow cytometric monitoring of DNA damage-dependent ATM phosphorylation. Leukemia. 2009.02; 23 (2): 409-414. ( PubMed , DOI )

Toshihiro Nanki, Kazuki Takada, Yukiko Komano, Tomohiro Morio, Hirokazu Kanegane, Atsuo Nakajima, Peter E Lipsky, Nobuyuki Miyasaka: Chemokine receptor expression and functional effects of chemokines on B cells: implication in the pathogenesis of rheumatoid arthritis. Arthritis Res. Ther.. 2009; 11 (5): R149. ( PubMed , DOI )

Yuri Futagami, Sunao Sugita, Takuro Fujimaki, Toshiyuki Yokoyama, Tomohiro Morio, Manabu Mochizuki: Bilateral anterior granulomatous keratouveitis with sunset glow fundus in a patient with autoimmune polyglandular syndrome. Ocul. Immunol. Inflamm.. 2009; 17 (2): 88-90. ( PubMed , DOI )

S Sugita, N Shimizu, K Watanabe, M Mizukami, T Morio, Y Sugamoto, M Mochizuki: Use of multiplex PCR and real-time PCR to detect human herpes virus genome in ocular fluids of patients with uveitis. Br J Ophthalmol. 2008.07; 92 (7): 928-932. ( PubMed , DOI )

Inagaki R, Tagawa K, Qi ML, Enokido Y, Ito H, Tamura T, Shimizu S, Oyanagi K, Arai N, Kanazawa I, Wanker EE, Okazawa H: Omi / HtrA2 is relevant to the selective vulnerability of striatal neurons in Huntington's disease. Eur. J. Neurosci. 2008.07; 28 (1): 30-40. ( PubMed , DOI )

Koichi Suzuki, Koji Tsugawa, Eishin Oki, Tomohiro Morio, Etsuro Ito, Hiroshi Tanaka: Vesical varices and telangiectasias in a patient with ataxia telangiectasia. Pediatr. Nephrol.. 2008.06; 23 (6): 1005-1008. ( PubMed , DOI )

S Kido, S Sugita, S Horie, M Miyanaga, K Miyata, N Shimizu, T Morio, M Mochizuki: Association of varicella zoster virus load in the aqueous humor with clinical manifestations of anterior uveitis in herpes zoster ophthalmicus and zoster sine herpete. Br J Ophthalmol. 2008.04; 92 (4): 505-508. ( PubMed , DOI )

Min Kyoung Shin, Mi-Kyoung Kim, Yoe-Sik Bae, Inho Jo, Seung-Jin Lee, Chong-Pyoung Chung, Yoon-Jeong Park, Do Sik Min: A novel collagen-binding peptide promotes osteogenic differentiation via Ca2+/calmodulin-dependent protein kinase II/ERK/AP-1 signaling pathway in human bone marrow-derived mesenchymal stem cells. Cell. Signal.. 2008.04; 20 (4): 613-624. ( PubMed , DOI )

Changjong Moon, Heechul Kim, Seungjoon Kim, Yongduk Lee, Min Kyoung Shin, Do Sik Min, Taekyun Shin: Transient expression of phospholipase D1 during heart development in rats. J. Vet. Med. Sci.. 2008.04; 70 (4): 411-413. ( PubMed )

Masahiro Shinohara, Takako Koga, Kazuo Okamoto, Shinya Sakaguchi, Kimiko Arai, Hisataka Yasuda, Toshiyuki Takai, Tatsuhiko Kodama, Tomohiro Morio, Raif S Geha, Daisuke Kitamura, Tomohiro Kurosaki, Wilfried Ellmeier, Hiroshi Takayanagi: Tyrosine kinases Btk and Tec regulate osteoclast differentiation by linking RANK and ITAM signals. Cell. 2008.03; 132 (5): 794-806. ( PubMed , DOI )

Kajitani K, Fujihashi M, Kobayashi Y, Shimizu S, Tsujimoto Y, Miki K: Crystal structure of human cyclophilin D in complex with its inhibitor, cyclosporin A at 0.96-A resolution. Proteins. 2008.03; 70 (4): 1635-1639. ( PubMed , DOI )

Daiichiro Hasegawa, Masako Fukushima, Yuki Hosokawa, Hiroki Takeda, Keiichiro Kawasaki, Tomoyuki Mizukami, Hiroyuki Nunoi, Hiroshi Ochiai, Tomohiro Morio, Yoshiyuki Kosaka: Successful treatment of chronic granulomatous disease with fludarabine-based reduced-intensity conditioning and unrelated bone marrow transplantation. Int. J. Hematol.. 2008.01; 87 (1): 88-90. ( PubMed , DOI )

Sayaka Yamamoto, Sunao Sugita, Yoshiharu Sugamoto, Norio Shimizu, Tomohiro Morio, Manabu Mochizuki: Quantitative PCR for the detection of genomic DNA of Epstein-Barr virus in ocular fluids of patients with uveitis. Jpn. J. Ophthalmol.. 2008; 52 (6): 463-467. ( PubMed , DOI )

Tomohiro Morio, Hyeyoung Kim: Ku, Artemis, and ataxia-telangiectasia-mutated: signalling networks in DNA damage. Int. J. Biochem. Cell Biol.. 2008; 40 (4): 598-603. ( PubMed , DOI )

Suzuki C, Isaka Y, Shimizu S, Tsujimoto Y, Takabatake Y, Ito T, Takahara S, Imai E: Bcl-2 protects tubular epithelial cells from ischemia reperfusion injury by inhibiting apoptosis. Cell Transplant. 2008; 17 (1-2): 223-229. ( PubMed )

Morio T: Strategy to Combat Opportunistic Infections after Umbilical Cord Blood Transplantation (UCBT) - Monitoring of Multiple Pathogens with a Novel Multiplex PCR System and Infusion of Ex-vivo Expanded CD4 T-Cells (CD4-DLI). Biol Blood Marrow Tr. . 2007.11; 13 (11): 1400-1401.

Sunao Sugita, Norio Shimizu, Tastushi Kawaguchi, Nobuaki Akao, Tomohiro Morio, Manabu Mochizuki: Identification of human herpesvirus 6 in a patient with severe unilateral panuveitis. Arch. Ophthalmol.. 2007.10; 125 (10): 1426-1427. ( PubMed , DOI )

S Horibe, M Takagi, J Unno, M Nagasawa, T Morio, A Arai, O Miura, M Ohta, M Kitagawa, S Mizutani: DNA damage check points prevent leukemic transformation in myelodysplastic syndrome. Leukemia. 2007.10; 21 (10): 2195-2198. ( PubMed , DOI )

Seungjoon Kim, Heechul Kim, Yongduk Lee, Jin Won Hyun, Young Ho Lee, Min Kyoung Shin, Do Sik Min, Taekyun Shin: The expression and cellular localization of phospholipase D isozymes in the developing mouse testis. J. Vet. Sci.. 2007.09; 8 (3): 209-212. ( PubMed )

Do Sik Min, Jeong-Sun Choi, Ha-Young Kim, Min Kyoung Shin, Mi Kyoung Kim, Mun-Yong Lee: Ischemic preconditioning upregulates expression of phospholipase D2 in the rat hippocampus. Acta Neuropathol.. 2007.08; 114 (2): 157-162. ( PubMed , DOI )

H Okamoto, C Arii, F Shibata, T Toma, T Wada, M Inoue, Y Tone, Y Kasahara, S Koizumi, Y Kamachi, Y Ishida, J Inagaki, M Kato, T Morio, A Yachie: Clonotypic analysis of T cell reconstitution after haematopoietic stem cell transplantation (HSCT) in patients with severe combined immunodeficiency. Clin. Exp. Immunol.. 2007.06; 148 (3): 450-460. ( PubMed , DOI )

C Tono, Y Takahashi, K Terui, S Sasaki, T Kamio, S Tandai, T Sato, K Kudo, T Toki, N Tachibana, T Yoshioka, T Nakahata, T Morio, R Nishikomori, E Ito: Correction of immunodeficiency associated with NEMO mutation by umbilical cord blood transplantation using a reduced-intensity conditioning regimen. Bone Marrow Transplant.. 2007.06; 39 (12): 801-804. ( PubMed , DOI )

Mizuta T, Shimizu S, Matsuoka Y, Nakagawa T, Tsujimoto Y: A Bax/Bak-independent mechanism of cytochrome c release. J Biol Chem. 2007.06; 282 (22): 16623-16630. ( PubMed , DOI )

Tsujimoto Y, Shimizu S: Role of the mitochondrial membrane permeability transition in cell death. Apoptosis. 2007.05; 12 (5): 835-840. ( PubMed , DOI )

Kumiko Ohnuma-Ishikawa, Tomohiro Morio, Takayuki Yamada, Yuji Sugawara, Makoto Ono, Masayuki Nagasawa, Akio Yasuda, Chikao Morimoto, Kei Ohnuma, Nam H Dang, Hajime Hosoi, Eric Verdin, Shuki Mizutani: Knockdown of XAB2 enhances all-trans retinoic acid-induced cellular differentiation in all-trans retinoic acid-sensitive and -resistant cancer cells. Cancer Res.. 2007.02; 67 (3): 1019-1029. ( PubMed , DOI )

Heechul Kim, Jeeyoung Lee, Seungjoon Kim, Min Kyoung Shin, Do Sik Min, Taekyun Shin: Differential expression of phospholipases D1 and D2 in mouse tissues. Cell Biol. Int.. 2007.02;

Satoru Watanabe, Kazuo Terashima, Shinrai Ohta, Shigeo Horibata, Misako Yajima, Yoko Shiozawa, M Zahidunnabi Dewan, Zhong Yu, Mamoru Ito, Tomohiro Morio, Norio Shimizu, Mitsuo Honda, Naoki Yamamoto: Hematopoietic stem cell-engrafted NOD/SCID/IL2Rgamma null mice develop human lymphoid systems and induce long-lasting HIV-1 infection with specific humoral immune responses. Blood. 2007.01; 109 (1): 212-218. ( PubMed , DOI )

Jong Hwa Lee, Kyung Hwan Kim, Tomohiro Morio, Hyeyoung Kim: Ataxia-telangiectasia-mutated-dependent activation of Ku in human fibroblasts exposed to hydrogen peroxide. Ann. N. Y. Acad. Sci.. 2006.12; 1091 76-82. ( PubMed , DOI )

Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, Takada H, Hara T, Kawamura N, Ariga T, Kaneko H, Kondo N, Tsuge I, Yachie A, Sakiyama Y, Iwata T, Bessho F, Ohishi T, Joh K, Imai K, Kogawa K, Shinohara M, Fujieda M, Wakiguchi H, Pasic S, Abinun M, Ochs HD, Renner ED, Jansson A, Belohradsky BH, Metin A, Shimizu N, Mizutani S, Miyawaki T, Nonoyama S, Karasuyama H: Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity. 2006.11; 25 (5): 745-755. ( PubMed , DOI )

Shinichiro Y Koga, Satoru Kumaki, Ryo Ichinohasama, Mitsutoshi Munakata, Kazuhiro Haginoya, Yoshiyuki Ohashi, Yoshiko Tanaka, Osamu Sakamoto, Masayoshi Minegishi, Tomohiro Morio, Kazuie Iinuma, Shigeru Tsuchiya: The first infant case with hepatosplenic gammadelta T-cell lymphoma after acute disseminated encephalomyelitis (ADEM)-like exacerbation. J. Pediatr. Hematol. Oncol.. 2006.11; 28 (11): 741-745. ( PubMed , DOI )

Ryoji Kobayashi, Tadashi Ariga, Shigeaki Nonoyama, Hirokazu Kanegane, Shigeru Tsuchiya, Tomohiro Morio, Hiromasa Yabe, Yoshihisa Nagatoshi, Keisei Kawa, Ken Tabuchi, Masahiro Tsuchida, Toshio Miyawaki, Shunichi Kato: Outcome in patients with Wiskott-Aldrich syndrome following stem cell transplantation: an analysis of 57 patients in Japan. Br. J. Haematol.. 2006.11; 135 (3): 362-366. ( PubMed , DOI )

Simamura E, Hirai K, Shimada H, Koyama J, Niwa Y, Shimizu S: Furanonaphthoquinones cause apoptosis of cancer cells by inducing the production of reactive oxygen species by the mitochondrial voltage-dependent anion channel. Cancer Biol Ther. 2006.11; 5 (11): 1523-1529. ( PubMed )

Satoru Torii, Takuya Yamamoto, Yoshiki Tsuchiya, Eisuke Nishida: ERK MAP kinase in G cell cycle progression and cancer. Cancer Science. 2006.08; 97 (8): 697-702. ( PubMed , DOI )

Ito K, Oji Y, Tatsumi N, Shimizu S, Kanai Y, Nakazawa T, Asada M, Jomgeow T, Aoyagi S, Nakano Y, Tamaki H, Sakaguchi N, Shirakata T, Nishida S, Kawakami M, Tsuboi A, Oka Y, Tsujimoto Y, Sugiyama H: Antiapoptotic function of 17AA(+)WT1 (Wilms' tumor gene) isoforms on the intrinsic apoptosis pathway. Oncogene. 2006.07; 25 (30): 4217-4229. ( PubMed , DOI )

Masahiko Kato, Hirokazu Kimura, Mitsuru Seki, Akira Shimada, Yasuhide Hayashi, Tomohiro Morio, Satoru Kumaki, Yasushi Ishida, Yoshiro Kamachi, Akihiro Yachie: Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan. Allergol Int. 2006.06; 55 (2): 115-119. ( PubMed , DOI )

Masayuki Nagasawa, Takeshi Isoda, Sukeyuki Itoh, Michiko Kajiwara, Tomohiro Morio, Norio Shimizu, Kazuyuki Ogawa, Kinya Nagata, Masataka Nakamura, Shuki Mizutani: Analysis of serum granulysin in patients with hematopoietic stem-cell transplantation: its usefulness as a marker of graft-versus-host reaction. Am. J. Hematol.. 2006.05; 81 (5): 340-348. ( PubMed , DOI )

Y Tsuji, K Imai, M Kajiwara, Y Aoki, T Isoda, D Tomizawa, M Imai, S Ito, H Maeda, Y Minegishi, H Ohkawa, J Yata, N Sasaki, K Kogawa, M Nagasawa, T Morio, S Nonoyama, S Mizutani: Hematopoietic stem cell transplantation for 30 patients with primary immunodeficiency diseases: 20 years experience of a single team. Bone Marrow Transplant.. 2006.03; 37 (5): 469-477. ( PubMed , DOI )

Kohsuke Imai, Mitsunobu Shimadzu, Takeo Kubota, Tomohiro Morio, Takeshi Matsunaga, Young-Dong Park, Akira Yoshioka, Shigeaki Nonoyama: Female hyper IgM syndrome type 1 with a chromosomal translocation disrupting CD40LG. Biochim. Biophys. Acta. 2006.03; 1762 (3): 335-340. ( PubMed , DOI )

Jae-Ho Chang, Soo-Ki Kim, In-Hong Choi, Sang-Kyou Lee, Tomohiro Morio, Eun-Ju Chang: Apoptosis of macrophages induced by Trichomonas vaginalis through the phosphorylation of p38 mitogen-activated protein kinase that locates at downstream of mitochondria-dependent caspase activation. Int. J. Biochem. Cell Biol.. 2006; 38 (4): 638-647. ( PubMed , DOI )

Tsujimoto Y, Nakagawa T, Shimizu S: Mitochondrial membrane permeability transition and cell death. Biochim Biophys Acta. 2006; 1757 (9-10): 1297-1300. ( PubMed , DOI )

Daisuke Tomizawa, Yuki Aoki, Masayuki Nagasawa, Tomohiro Morio, Michiko Kajiwara, Teruaki Sekine, Norio Shimizu, Masahiko Kato, Akihiro Yachie, Shuki Mizutani: Novel adopted immunotherapy for mixed chimerism after unrelated cord blood transplantation in Omenn syndrome. Eur. J. Haematol.. 2005.11; 75 (5): 441-444. ( PubMed , DOI )

Tsujimoto Y, Shimizu S: Another way to die: autophagic programmed cell death. Cell Death Differ. 2005.11; 12 Suppl 2 1528-1534. ( PubMed , DOI )

Motohiko Okano, Keisei Kawa, Hiroshi Kimura, Akihiro Yachie, Hiroshi Wakiguchi, Akihiko Maeda, Shosuke Imai, Shouichi Ohga, Hirokazu Kanegane, Shigeru Tsuchiya, Tomohiro Morio, Masaaki Mori, Shumpei Yokota, Shinsaku Imashuku: Proposed guidelines for diagnosing chronic active Epstein-Barr virus infection. Am. J. Hematol.. 2005.09; 80 (1): 64-69. ( PubMed , DOI )

Yoichiro Tsuji, Sukeyuki Ito, Takeshi Isoda, Michiko Kajiwara, Masayuki Nagasawa, Tomohiro Morio, Shuki Mizutani: Successful nonmyeloablative cord blood transplantation for an infant with malignant infantile osteopetrosis. J. Pediatr. Hematol. Oncol.. 2005.09; 27 (9): 495-498. ( PubMed )

Ji Hoon Yu, Joo Weon Lim, Kyung Hwan Kim, Tomohiro Morio, Hyeyoung Kim: NADPH oxidase and apoptosis in cerulein-stimulated pancreatic acinar AR42J cells. Free Radic. Biol. Med.. 2005.09; 39 (5): 590-602. ( PubMed , DOI )

Takahashi N, Kobayashi S, Kajino S, Imai K, Tomoda K, Shimizu S, Okamoto T: Inhibition of the 53BP2S-mediated apoptosis by nuclear factor kappaB and Bcl-2 family proteins. Genes to cells : devoted to molecular & cellular mechanisms. 2005.08; 10 (8): 803-11. ( PubMed , DOI )

Elinder F, Akanda N, Tofighi R, Shimizu S, Tsujimoto Y, Orrenius S, Ceccatelli S: Opening of plasma membrane voltage-dependent anion channels (VDAC) precedes caspase activation in neuronal apoptosis induced by toxic stimuli. Cell Death Differ. 2005.08; 12 (8): 1134-1140. ( PubMed , DOI )

Chen C, Shimizu S, Tsujimoto Y, Motoyama N: Chk2 regulates transcription-independent p53-mediated apoptosis in response to DNA damage. Biochem Biophys Res Commun. 2005.07; 333 (2): 427-431. ( PubMed , DOI )

Kunio Kondoh, Satoru Torii, Eisuke Nishida: Control of MAP kinase signaling to the nucleus. Chromosoma. 2005.07; 114 (2): 86-91. ( PubMed , DOI )

Kohsuke Imai, Yi Zhu, Patrick Revy, Tomohiro Morio, Shuki Mizutani, Alain Fischer, Shigeaki Nonoyama, Anne Durandy: Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2. Clin. Immunol.. 2005.06; 115 (3): 277-285. ( PubMed , DOI )

Zhang L, Shimizu S, Tsujimoto Y: Two distinct Fas-activated signaling pathways revealed by an antitumor drug D609. Oncogene. 2005.04; 24 (18): 2954-2962. ( PubMed , DOI )

Nakagawa T, Shimizu S, Watanabe T, Yamaguchi O, Otsu K, Yamagata H, Inohara H, Kubo T, Tsujimoto Y: Cyclophilin D-dependent mitochondrial permeability transition regulates some necrotic but not apoptotic cell death. Nature. 2005.03; 434 (7033): 652-658. ( PubMed , DOI )

Ling Chen, Tomohiro Morio, Yoshiyuki Minegishi, Shin-Ichiro Nakada, Masayuki Nagasawa, Kenshi Komatsu, Luciana Chessa, Anna Villa, Daniele Lecis, Domenico Delia, Shuki Mizutani: Ataxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage. Cancer Sci.. 2005.02; 96 (2): 134-141. ( PubMed , DOI )

Masayuki Nagasawa, Yi Zhu, Takeshi Isoda, Daisuke Tomizawa, Sukeyuki Itoh, Michiko Kajiwara, Tomohiro Morio, Shigeaki Nonoyama, Norio Shimizu, Shuki Mizutani: Analysis of serum soluble CD40 ligand (sCD40L) in the patients undergoing allogeneic stem cell transplantation: platelet is a major source of serum sCD40L. Eur. J. Haematol.. 2005.01; 74 (1): 54-60. ( PubMed , DOI )

Ono M, Sawa Y, Ryugo M, Alechine AN, Shimizu S, Sugioka R, Tsujimoto Y, Matsuda H: BH4 peptide derivative from Bcl-xL attenuates ischemia/reperfusion injury thorough anti-apoptotic mechanism in rat hearts. Eur J Cardiothorac Surg. 2005.01; 27 (1): 117-121. ( PubMed , DOI )

Yoshikazu Ohtsuka, Toshiaki Shimizu, Kyoko Nishizawa, Risako Ohtaki, Tomonosuke Someya, Atsuko Noguchi, Naoto Shimura, Hyoiru Kim, Harunori Sugimoto, Hiroo Fujita, Tomohiro Morio, Yuichiro Yamashiro: Successful engraftment and decrease of cytomegalovirus load after cord blood stem cell transplantation in a patient with DiGeorge syndrome. Eur. J. Pediatr.. 2004.12; 163 (12): 747-748. ( PubMed , DOI )

Sugioka R, Shimizu S, Tsujimoto Y: Fzo1, a protein involved in mitochondrial fusion, inhibits apoptosis. J Biol Chem. 2004.12; 279 (50): 52726-52734. ( PubMed , DOI )

Shimizu S, Kanaseki T, Mizushima N, Mizuta T, Arakawa-Kobayashi S, Thompson CB, Tsujimoto Y: Role of Bcl-2 family proteins in a non-apoptotic programmed cell death dependent on autophagy genes. Nat Cell Biol. 2004.12; 6 (12): 1221-1228. ( PubMed , DOI )

Satoru Torii, Kei Nakayama, Takuya Yamamoto, Eisuke Nishida: Regulatory mechanisms and function of ERK MAP kinases. Journal of Biochemistry. 2004.11; 136 (5): 557-561. ( PubMed , DOI )

Jae-Ho Chang, Yong-Suk Ryang, Tomohiro Morio, Sang-Kyou Lee, Eun-Ju Chang: Trichomonas vaginalis inhibits proinflammatory cytokine production in macrophages by suppressing NF-kappaB activation. Mol. Cells. 2004.10; 18 (2): 177-185. ( PubMed )

Wook-Jin Chae, Heung-Kyu Lee, Jin-Hwan Han, Sang-Won Vincent Kim, Alfred L M Bothwell, Tomohiro Morio, Sang-Kyou Lee: Qualitatively differential regulation of T cell activation and apoptosis by T cell receptor zeta chain ITAMs and their tyrosine residues. Int. Immunol.. 2004.09; 16 (9): 1225-1236. ( PubMed , DOI )

Zhang L, Shimizu S, Sakamaki K, Yonehara S, Tsujimoto Y: A caspase-8-independent signaling pathway activated by Fas ligation leads to exposure of the Bak N terminus. J Biol Chem. 2004.08; 279 (32): 33865-33874. ( PubMed , DOI )

Satoru Torii, Morioh Kusakabe, Takuya Yamamoto, Momoko Maekawa, Eisuke Nishida: Sef is a spatial regulator for Ras/MAP kinase signaling. Developmental Cell. 2004.07; 7 (1): 33-44. ( PubMed , DOI )

Daisuke Tomizawa, Kohsuke Imai, Sukeyuki Ito, Michiko Kajiwara, Yoshiyuki Minegishi, Masayuki Nagasawa, Tomohiro Morio, Shigeaki Nonoyama, Shuki Mizutani: Allogeneic hematopoietic stem cell transplantation for seven children with X-linked hyper-IgM syndrome: a single center experience. Am. J. Hematol.. 2004.05; 76 (1): 33-39. ( PubMed , DOI )

Hiroshi Hanafusa, Satoru Torii, Takayuki Yasunaga, Kunihiro Matsumoto, Eisuke Nishida: Shp2, an SH2-containing protein-tyrosine phosphatase, positively regulates receptor tyrosine kinase signaling by dephosphorylating and inactivating the inhibitor Sprouty. Journal of Biological Chemistry. 2004.05; 279 (22): 22992-22995. ( PubMed , DOI )

Tsuruta F, Sunayama J, Mori Y, Hattori S, Shimizu S, Tsujimoto Y, Yoshioka K, Masuyama N, Gotoh Y: JNK promotes Bax translocation to mitochondria through phosphorylation of 14-3-3 proteins. EMBO J. 2004.04; 23 (8): 1889-1899. ( PubMed , DOI )

Masayuki Nagasawa, Daisuke Tomizawa, Youichirou Tsuji, Michiko Kajiwara, Tomohiro Morio, Shigeaki Nonoyama, Minoru Asada, Shuki Mizutani: Pancytopenia presenting with monosomy 7 which disappeared after immunosuppressive therapy. Leuk. Res.. 2004.03; 28 (3): 315-319. ( PubMed )

Masayuki Nagasawa, Sukeyuki Itoh, Yasuyuki Sawada, Tomohiro Morio, Shigeaki Nonoyama, Shuki Mizutani: Coagulopathy in a patient with X-linked hyper-IgM syndrome who developed Kaposi's sarcoma. Am. J. Hematol.. 2004.02; 75 (2): 116-117. ( PubMed , DOI )

Noriko Shimasaki, Tetsuya Mori, Hiroyuki Shimada, Mayumi Sugita, Masataka Higuchi, Makio Mukai, Tomohiro Morio, Shinichiro Okamoto: Epstein-Barr virus-associated posttransplant lymphoproliferative disorder after a cord blood stem cell transplantation presenting with pulmonary nodules. J. Pediatr. Hematol. Oncol.. 2004.02; 26 (2): 124-127. ( PubMed )

Kohsuke Imai, Tomohiro Morio, Yi Zhu, Yinzhu Jin, Sukeyuki Itoh, Michiko Kajiwara, Jun-Ichi Yata, Shuki Mizutani, Hans D Ochs, Shigeaki Nonoyama: Clinical course of patients with WASP gene mutations. Blood. 2004.01; 103 (2): 456-464. ( PubMed , DOI )

Sugioka R, Shimizu S, Funatsu T, Tamagawa H, Sawa Y, Kawakami T, Tsujimoto Y: BH4-domain peptide from Bcl-xL exerts anti-apoptotic activity in vivo. Oncogene. 2003.11; 22 (52): 8432-8440. ( PubMed , DOI )

Konishi A, Shimizu S, Hirota J, Takao T, Fan Y, Matsuoka Y, Zhang L, Yoneda Y, Fujii Y, Skoultchi AI, Tsujimoto Y: Involvement of histone H1.2 in apoptosis induced by DNA double-strand breaks. Cell. 2003.09; 114 (6): 673-688. ( PubMed )

Ji Yeon Song, Joo Weon Lim, Hyeyoung Kim, Tomohiro Morio, Kyung Hwan Kim: Oxidative stress induces nuclear loss of DNA repair proteins Ku70 and Ku80 and apoptosis in pancreatic acinar AR42J cells. J. Biol. Chem.. 2003.09; 278 (38): 36676-36687. ( PubMed , DOI )

Yu Zhang, Hiroshi Nagata, Tatsuro Ikeuchi, Hiroyuki Mukai, Michiko K Oyoshi, Ayako Demachi, Tomohiro Morio, Hiroshi Wakiguchi, Nobuhiro Kimura, Norio Shimizu, Kohtaro Yamamoto: Common cytological and cytogenetic features of Epstein-Barr virus (EBV)-positive natural killer (NK) cells and cell lines derived from patients with nasal T/NK-cell lymphomas, chronic active EBV infection and hydroa vacciniforme-like eruptions. Br. J. Haematol.. 2003.06; 121 (5): 805-814. ( PubMed )

Masako Imai, Shuki Mizutani, Tomohiro Morio: Coordinated regulation of the promoter and enhancer regions of human CD23 gene by signal through IL-4R and CD40, and the role of Ku70/80 in the enhancer activity. J. Med. Dent. Sci.. 2003.06; 50 (2): 155-165. ( PubMed )

Michiko K Oyoshi, Hiroshi Nagata, Nobuhiro Kimura, Yu Zhang, Ayako Demachi, Toshiro Hara, Hirokazu Kanegane, Yoshinobu Matsuo, Tomohiro Yamaguchi, Tomohiro Morio, Atsuyoshi Hirano, Norio Shimizu, Kohtaro Yamamoto: Preferential Expansion of Vγ9-JγP/Vδ2-Jδ3 γδ T Cells in Nasal T-Cell Lymphoma and Chronic Active Epstein-Barr Virus Infection. Am. J. Pathol.. 2003.05; 162 (5): 1629-1638. ( PubMed )

Yi Zhu, Shigeaki Nonoyama, Tomohiro Morio, Masamichi Muramatsu, Tasuku Honjo, Shuki Mizutani: Type two hyper-IgM syndrome caused by mutation in activation-induced cytidine deaminase. J. Med. Dent. Sci.. 2003.03; 50 (1): 41-46. ( PubMed )

Hiroshi Kimura, Tsuneo Morishima, Hirokazu Kanegane, Shouichi Ohga, Yo Hoshino, Akihiko Maeda, Shosuke Imai, Motohiko Okano, Tomohiro Morio, Shumpei Yokota, Shigeru Tsuchiya, Akihiro Yachie, Shinsaku Imashuku, Keisei Kawa, Hiroshi Wakiguchi, : Prognostic factors for chronic active Epstein-Barr virus infection. J. Infect. Dis.. 2003.02; 187 (4): 527-533. ( PubMed , DOI )

Nomura M, Shimizu S, Sugiyama T, Narita M, Ito T, Matsuda H, Tsujimoto Y: 14-3-3 Interacts directly with and negatively regulates pro-apoptotic Bax. J Biol Chem. 2003.01; 278 (3): 2058-2065. ( PubMed , DOI )

Ayako Demachi, Hiroshi Nagata, Tomohiro Morio, Michiko K Oyoshi, Yu Zhang, Nobuko Tabata, Nobuhiro Kimura, Norio Shimizu, Kohtaro Yamamoto: Characterization of Epstein-Barr virus (EBV)-positive NK cells isolated from hydroa vacciniforme-like eruptions. Microbiol. Immunol.. 2003; 47 (7): 543-552. ( PubMed )

Hiroshi Hanafusa, Satoru Torii, Takayuki Yasunaga, Eisuke Nishida: Sprouty1 and Sprouty2 provide a control mechanism for the Ras/MAPK signalling pathway. Nature Cell Biology. 2002.11; 4 (11): 850-858. ( PubMed , DOI )

Akao Y, Maruyama W, Shimizu S, Yi H, Nakagawa Y, Shamoto-Nagai M, Youdim MB, Tsujimoto Y, Naoi M: Mitochondrial permeability transition mediates apoptosis induced by N-methyl(R)salsolinol, an endogenous neurotoxin, and is inhibited by Bcl-2 and rasagiline, N-propargyl-1(R)-aminoindan. J Neurochem. 2002.08; 82 (4): 913-923. ( PubMed )

Jae-Hyuck Shim, Heung-Kyu Lee, Eun-Ju Chang, Wook-Jin Chae, Jin-Hwan Han, Duck-Jong Han, Tomohiro Morio, Jung-Jin Yang, Alfred Bothwell, Sang-Kyou Lee: Immunosuppressive effects of tautomycetin in vivo and in vitro via T cell-specific apoptosis induction. Proc. Natl. Acad. Sci. U.S.A.. 2002.08; 99 (16): 10617-10622. ( PubMed , DOI )

Sugiyama T, Shimizu S, Matsuoka Y, Yoneda Y, Tsujimoto Y: Activation of mitochondrial voltage-dependent anion channel by apro-apoptotic BH3-only protein Bim. Oncogene. 2002.07; 21 (32): 4944-4956. ( PubMed , DOI )

Tsujimoto Y, Shimizu S: The voltage-dependent anion channel: an essential player in apoptosis. Biochimie. 2002; 84 (2-3): 187-193. ( PubMed )

Y Jin, S Nonoyama, T Morio, K Imai, H D Ochs, S Mizutani: Characterization of soluble CD40 ligand released from human activated platelets. J. Med. Dent. Sci.. 2001.03; 48 (1): 23-27. ( PubMed )

Shimizu S, Matsuoka Y, Shinohara Y, Yoneda Y, Tsujimoto Y: Essential role of voltage-dependent anion channel in various forms of apoptosis in mammalian cells. J Cell Biol. 2001.01; 152 (2): 237-250. ( PubMed )

Tsujimoto Y, Shimizu S: VDAC regulation by the Bcl-2 family of proteins. Cell Death Differ. 2000.12; 7 (12): 1174-1181. ( PubMed , DOI )

M Nagasawa, M Imai, K Imai, S Itoh, M Kajiwara, T Morio, S Nonoyama: In vivo class switch of B cells after cord blood stem cell transplantation in severe combined immune deficient (SCID) patient. Am. J. Hematol.. 2000.10; 65 (2): 176-177. ( PubMed )

S Kumaki, N Ishii, M Minegishi, Y Ohashi, I Hakozaki, S Nonoyama, K Imai, T Morio, I Tsuge, Y Sakiyama, A Miyanoshita, J Miura, M Mayumi, T Heike, K Katamura, H Takada, I Izumi, J Kamizono, S Hibi, H Sasaki, M Kimura, A Kikuta, Y Date, M Sako, H Tanaka, K Sano, K Sugamura, S Tsuchiya: Characterization of the gammac chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID). Hum. Genet.. 2000.10; 107 (4): 406-408. ( PubMed )

Kusano H, Shimizu S, Koya RC, Fujita H, Kamada S, Kuzumaki N, Tsujimoto Y: Human gelsolin prevents apoptosis by inhibiting apoptotic mitochondrial changes via closing VDAC. Oncogene. 2000.10; 19 (42): 4807-4814. ( PubMed , DOI )

Shimizu S, Shinohara Y, Tsujimoto Y: Bax and Bcl-xL independently regulate apoptotic changes of yeast mitochondria that require VDAC but not adenine nucleotide translocator. Oncogene. 2000.09; 19 (38): 4309-4318. ( PubMed , DOI )

Koya RC, Fujita H, Shimizu S, Ohtsu M, Takimoto M, Tsujimoto Y, Kuzumaki N: Gelsolin inhibits apoptosis by blocking mitochondrial membrane potential loss and cytochrome c release. J Biol Chem. 2000.05; 275 (20): 15343-15349. ( PubMed )

Shimizu S, Ide T, Yanagida T, Tsujimoto Y: Electrophysiological study of a novel large pore formed by Bax and the voltage-dependent anion channel that is permeable to cytochrome c. J Biol Chem. 2000.04; 275 (16): 12321-12325. ( PubMed )

Shimizu S, Konishi A, Kodama T, Tsujimoto Y: BH4 domain of antiapoptotic Bcl-2 family members closes voltage-dependent anion channel and inhibits apoptotic mitochondrial changes and cell death. Proc Natl Acad Sci USA. 2000.03; 97 (7): 3100-3105. ( PubMed )

Tsujimoto Y, Shimizu S: Bcl-2 family: life-or-death switch. FEBS Lett. 2000.01; 466 (1): 6-10. ( PubMed )

Shimizu S, Tsujimoto Y: Proapoptotic BH3-only Bcl-2 family members induce cytochrome c release, but not mitochondrial membrane potential loss, and do not directly modulate voltage-dependent anion channel activity. Proc Natl Acad Sci USA. 2000.01; 97 (2): 577-582. ( PubMed )

S Itoh, S Nonoyama, T Morio, K Imai, H Okawa, H D Ochs, M Shimadzu, J Yata: Mutations of the WASP gene in 10 Japanese patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Int. J. Hematol.. 2000.01; 71 (1): 79-83. ( PubMed )

Nomura M, Shimizu S, Ito T, Narita M, Matsuda H, Tsujimoto Y: Apoptotic cytosol facilitates Bax translocation to mitochondria that involves cytosolic factor regulated by Bcl-2. Cancer Res. 1999.11; 59 (21): 5542-5548. ( PubMed )

M Kajiwara, S Nonoyama, M Eguchi, T Morio, K Imai, H Okawa, M Kaneko, M Sako, S Ohga, M Maeda, S Hibi, H Hashimito, A Shibuya, H D Ochs, T Nakahata, J I Yata: WASP is involved in proliferation and differentiation of human haemopoietic progenitors in vitro. Br. J. Haematol.. 1999.11; 107 (2): 254-262. ( PubMed )

T Morio, S H Hanissian, L B Bacharier, H Teraoka, S Nonoyama, M Seki, J Kondo, H Nakano, S K Lee, R S Geha, J Yata: Ku in the cytoplasm associates with CD40 in human B cells and translocates into the nucleus following incubation with IL-4 and anti-CD40 mAb. Immunity. 1999.09; 11 (3): 339-348. ( PubMed )

Imazu T, Shimizu S, Tagami S, Matsushima M, Nakamura Y, Miki T, Okuyama A, Tsujimoto Y: Bcl-2/E1B 19 kDa-interacting protein 3-like protein (Bnip3L) interacts with bcl-2/Bcl-xL and induces apoptosis by altering mitochondrial membrane permeability. Oncogene. 1999.08; 18 (32): 4523-4529. ( PubMed , DOI )

K Imai, S Nonoyama, H Miki, T Morio, K Fukami, Q Zhu, A Aruffo, H D Ochs, J Yata, T Takenawa: The pleckstrin homology domain of the Wiskott-Aldrich syndrome protein is involved in the organization of actin cytoskeleton. Clin. Immunol.. 1999.08; 92 (2): 128-137. ( PubMed , DOI )

Shimizu S, Narita M, Tsujimoto Y: Bcl-2 family proteins regulate the release of apoptogenic cytochrome c by the mitochondrial channel VDAC. Nature. 1999.06; 399 (6735): 483-487. ( PubMed , DOI )

Eguchi Y, Srinivasan A, Tomaselli KJ, Shimizu S, Tsujimoto Y: ATP-dependent steps in apoptotic signal transduction. Cancer Res. 1999.05; 59 (9): 2174-2181. ( PubMed )

Okuno S, Shimizu S, Ito T, Nomura M, Hamada E, Tsujimoto Y, Matsuda H: Bcl-2 prevents caspase-independent cell death. J Biol Chem. 1998.12; 273 (51): 34272-34277. ( PubMed )

Narita M, Shimizu S, Ito T, Chittenden T, Lutz RJ, Matsuda H, Tsujimoto Y: Bax interacts with the permeability transition pore to induce permeability transition and cytochrome c release in isolated mitochondria. Proc Natl Acad Sci USA. 1998.12; 95 (25): 14681-14686. ( PubMed )

S Nonoyama, S Tsukada, T Yamadori, T Miyawaki, Y Z Jin, C Watanabe, T Morio, J Yata, H D Ochs: Functional analysis of peripheral blood B cells in patients with X-linked agammaglobulinemia. J. Immunol.. 1998.10; 161 (8): 3925-3929. ( PubMed )

Tanabe H, Eguchi Y, Shimizu S, Martinou JC, Tsujimoto Y: Death-signalling cascade in mouse cerebellar granule neurons. Eur J Neurosci. 1998.04; 10 (4): 1403-1411. ( PubMed )

Yoshimura S, Banno Y, Nakashima S, Takenaka K, Sakai H, Nishimura Y, Sakai N, Shimizu S, Eguchi Y, Tsujimoto Y, Nozawa Y: Ceramide formation leads to caspase-3 activation during hypoxic PC12 cell death. Inhibitory effects of Bcl-2 on ceramide formation and caspase-3 activation. J Biol Chem. 1998.03; 273 (12): 6921-6927. ( PubMed )

Yamabe K, Shimizu S, Kamiike W, Waguri S, Eguchi Y, Hasegawa J, Okuno S, Yoshioka Y, Ito T, Sawa Y, Uchiyama Y, Tsujimoto Y, Matsuda H: Prevention of hypoxic liver cell necrosis by in vivo human bcl-2 gene transfection. Biochem Biophys Res Commun. 1998.02; 243 (1): 217-223. ( PubMed )

Shimizu S, Eguchi Y, Kamiike W, Funahashi Y, Mignon A, Lacronique V, Matsuda H, Tsujimoto Y: Bcl-2 prevents apoptotic mitochondrial dysfunction by regulating proton flux. Proc Natl Acad Sci USA. 1998.02; 95 (4): 1455-1459. ( PubMed )

Shimizu S, Tsujimoto Y: [Molecular mechanism of apoptosis]. Seikagaku. 1998.01; 70 (1): 14-21. ( PubMed )

Ohtsu M, Sakai N, Fujita H, Kashiwagi M, Gasa S, Shimizu S, Eguchi Y, Tsujimoto Y, Sakiyama Y, Kobayashi K, Kuzumaki N: Inhibition of apoptosis by the actin-regulatory protein gelsolin. EMBO J. 1997.08; 16 (15): 4650-4656. ( PubMed , DOI )

Eguchi Y, Shimizu S, Tsujimoto Y: Intracellular ATP levels determine cell death fate by apoptosis or necrosis. Cancer Res. 1997.05; 57 (10): 1835-1840. ( PubMed )

T Morio, T Chatila, R S Geha: HIV glycoprotein gp120 inhibits TCR-CD3-mediated activation of fyn and lck. Int. Immunol.. 1997.01; 9 (1): 53-64. ( PubMed )

Shimizu S, Eguchi Y, Kamiike W, Akao Y, Kosaka H, Hasegawa J, Matsuda H, Tsujimoto Y: Involvement of ICE family proteases in apoptosis induced by reoxygenation of hypoxic hepatocytes. Am J Physiol. 1996.12; 271 (6 Pt 1): G949-58. ( PubMed )

K Kawabata, M Nagasawa, T Morio, H Okawa, J Yata: Decreased alpha/beta heterodimer among CD8 molecules of peripheral blood T cells in Wiskott-Aldrich syndrome. Clin. Immunol. Immunopathol.. 1996.11; 81 (2): 129-135. ( PubMed )

Morimoto Y, Kamiike W, Nishida T, Hatanaka N, Shimizu S, Huang TP, Hamada E, Uchiyama Y, Yoshida Y, Furuya E, Matsuda H: Improvement of rat liver graft function by insulin administration to donor. Gastroenterology. 1996.10; 111 (4): 1071-1080. ( PubMed )

Shimizu S, Eguchi Y, Kamiike W, Waguri S, Uchiyama Y, Matsuda H, Tsujimoto Y: Bcl-2 blocks loss of mitochondrial membrane potential while ICE inhibitors act at a different step during inhibition of death induced by respiratory chain inhibitors. Oncogene. 1996.07; 13 (1): 21-29. ( PubMed )

Shimizu S, Eguchi Y, Kamiike W, Matsuda H, Tsujimoto Y: Bcl-2 expression prevents activation of the ICE protease cascade. Oncogene. 1996.06; 12 (11): 2251-2257. ( PubMed )

Shimizu S, Eguchi Y, Kamiike W, Waguri S, Uchiyama Y, Matsuda H, Tsujimoto Y: Retardation of chemical hypoxia-induced necrotic cell death by Bcl-2 and ICE inhibitors: possible involvement of common mediators in apoptotic and necrotic signal transductions. Oncogene. 1996.05; 12 (10): 2045-2050. ( PubMed )

Shimizu S, Eguchi Y, Kamiike W, Itoh Y, Hasegawa J, Yamabe K, Otsuki Y, Matsuda H, Tsujimoto Y: Induction of apoptosis as well as necrosis by hypoxia and predominant prevention of apoptosis by Bcl-2 and Bcl-XL. Cancer Res. 1996.05; 56 (9): 2161-2166. ( PubMed )

Hasegawa J, Kamada S, Kamiike W, Shimizu S, Imazu T, Matsuda H, Tsujimoto Y: Involvement of CPP32/Yama(-like) proteases in Fas-mediated apoptosis. Cancer Res. 1996.04; 56 (8): 1713-1718. ( PubMed )

T Morio, S Hanissian, R S Geha: Characterization of a 23-kDa protein associated with CD40. Proc. Natl. Acad. Sci. U.S.A.. 1995.12; 92 (25): 11633-11636. ( PubMed )

T Kondoh, K Hayashi, T Matsumoto, M Yoshimoto, T Morio, J Yata, Y Tsuji: Two sisters with clinical diagnosis of Wiskott-Aldrich syndrome: is the condition in the family autosomal recessive? Am. J. Med. Genet.. 1995.10; 60 (5): 364-369. ( PubMed , DOI )

N Ramesh, T Morio, R Fuleihan, M Worm, A Horner, E Tsitsikov, E Castigli, R S Geha: CD40-CD40 ligand (CD40L) interactions and X-linked hyperIgM syndrome (HIGMX-1). Clin. Immunol. Immunopathol.. 1995.09; 76 (3 Pt 2): S208-S213. ( PubMed )

Y Mizuno, T Morio, T Hara: Peripheral expansion of V delta 1-J delta 1/J delta 2+ gamma delta T cells and large granular lymphocytes in a patient with Wiskott-Aldrich syndrome. Acta Paediatr Jpn. 1995.06; 37 (3): 394-398. ( PubMed )

Shimizu S, Eguchi Y, Kosaka H, Kamiike W, Matsuda H, Tsujimoto Y: Prevention of hypoxia-induced cell death by Bcl-2 and Bcl-xL. Nature. 1995.04; 374 (6525): 811-813. ( PubMed , DOI )

Shimizu S, Kamiike W, Hatanaka N, Yoshida Y, Tagawa K, Miyata M, Matsuda H: New method for measuring ICG Rmax with a clearance meter. World J Surg. 1995; 19 (1): 113-8; discussion 118. ( PubMed )

Fujikawa M, Kamiike W, Hatanaka N, Shimizu S, Akashi A, Miyata M, Kurosawa K, Yoshida Y, Tagawa K, Matsuda H: Changes in biliary glutathione level during ischemia-reperfusion of rat liver. J Surg Res. 1994.11; 57 (5): 569-573. ( PubMed , DOI )

M Nagasawa, T Morio, S Takagi, J Yata: Differences of LAK-activity and IL-2 responsiveness between alpha/beta and gamma/delta T cells which developed after thymus transplantation. Acta Paediatr Jpn. 1994.08; 36 (4): 396-403. ( PubMed )

Shimizu S, Kamiike W, Hatanaka N, Miyata M, Inoue T, Yoshida Y, Tagawa K, Matsuda H: Beneficial effects of cyclosporine on reoxygenation injury in hypoxic rat liver. Transplantation. 1994.06; 57 (11): 1562-1566. ( PubMed )

Hatanaka N, Kamiike W, Morimoto Y, Shimizu S, Miyata M, Yoshida Y, Matsuda H: Protective effects of feeding and of fructose against hypoxic damage in the perfused liver. Transplant Proc. 1994.04; 26 (2): 916-917. ( PubMed )

T Morio, R S Geha, T A Chatila: Engagement of MHC class II molecules by staphylococcal superantigens activates src-type protein tyrosine kinases. Eur. J. Immunol.. 1994.03; 24 (3): 651-658. ( PubMed , DOI )

N S Trede, T Morio, P R Scholl, R S Geha, T Chatila: Early activation events induced by the staphylococcal superantigen toxic shock syndrome toxin-1 in human peripheral blood monocytes. Clin. Immunol. Immunopathol.. 1994.02; 70 (2): 137-144. ( PubMed )

C L Ren, T Morio, S M Fu, R S Geha: Signal transduction via CD40 involves activation of lyn kinase and phosphatidylinositol-3-kinase, and phosphorylation of phospholipase Cγ2. J. Exp. Med.. 1994.02; 179 (2): 673-680. ( PubMed )

Kamiike W, Miyata M, Izukura M, Itoh T, Nezu R, Nakamuro M, Hatanaka N, Shimizu S, Takahashi T, Shimazaki Y: Simultaneous surgery for coronary artery disease and gastric cancer. World J Surg. 1994; 18 (6): 879-81; discussion 882. ( PubMed )

H Hamaguchi, Y Nakamura, K Nagata, S Shiba, H Arimura, K Muroga, S Miyake, Y Ohkawa, T Morio: Philadelphia-chromosome-positive, monosomy 7 biphenotypic acute mixed lineage leukemia in adults: a pluripotent stem cell disorder. Leukemia. 1993.11; 7 (11): 1752-1758. ( PubMed )

Okawa H, Nagasawa M, Morio T, Takase K, Tanaka K, Yata J, Dan K, Nomura T, Sakamaki H, Onozawa Y, et al.: Peroxidase-negative and myelomonocytic antigen-positive acute leukemia. Int J Hematol. 1992.04; 55 (2): 165-171. ( PubMed )

T Morio, M Nagasawa, J Yata: Gamma-delta T cells in patients with primary immunodeficiency syndrome: their function and a possible role in the pathogenesis. Chem. Immunol.. 1992; 53 102-120. ( PubMed )

T Chatila, P Scholl, N Ramesh, N Trede, R Fuleihan, T Morio, R S Geha: Cellular and molecular mechanisms of immune activation by microbial superantigens: studies using toxic shock syndrome toxin-1. Chem. Immunol.. 1992; 55 146-171. ( PubMed )

Suzuki T, Bessho M, Hirashima K, Tohda S, Nagata K, Morio T, Imai Y, Nara N: Enhancement by transforming growth factor-beta 1 (TGF-beta 1) of the proliferation of leukemic blast progenitors stimulated with IL-3. J Cell Physiol. 1991.09; 148 (3): 396-403. ( PubMed , DOI )

M Nagasawa, T Morio, S Takagi, J Yata: Generation and function of γδ T cells after allogeneic bone marrow transplantation in humans: comparison in absence or presence of HLA-matched or mismatched thymus. Acta Paediatr Jpn. 1991.04; 33 (2): 146-158. ( PubMed )

Suzuki T, Morio T, Tohda S, Nagata K, Yamashita Y, Imai Y, Aoki N, Hirashima K, Nara N: Effects of interleukin-6 and granulocyte colony-stimulating factor on the proliferation of leukemic blast progenitors from acute myeloblastic leukemia patients. Jpn J Cancer Res. 1990.10; 81 (10): 979-986. ( PubMed )

Tohda S, Morio T, Suzuki T, Nagata K, Kamiyama T, Imai Y, Nara N, Aoki N: Richter syndrome with two B cell clones possessing different surface immunoglobulins and immunoglobulin gene rearrangements. Am J Hematol. 1990.09; 35 (1): 32-36. ( PubMed )

Nara N, Suzuki T, Nagata K, Tohda S, Yamashita Y, Nakamura Y, Imai Y, Morio T, Minamihisamatsu M: Granulocyte colony-stimulating factor-dependent growth of an acute myeloblastic leukemia cell line. Jpn J Cancer Res. 1990.06; 81 (6-7): 625-631. ( PubMed )

T Morio, M Nagasawa, S Nonoyama, H Okawa, J Yata: Phenotypic profile and functions of T cell receptor-γδ-bearing cells from patients with primary immunodeficiency syndrome. J. Immunol.. 1990.02; 144 (4): 1270-1275. ( PubMed )

Nara N, Tohda S, Suzuki T, Nagata K, Yamashita Y, Imai Y, Morio T, Bessho M, Shibuya A, Adachi Y: Terminal differentiation to mature neutrophils and eosinophils in suspension culture of the blast progenitors in acute myeloblastic leukemia. Hematol Pathol. 1990; 4 (3): 125-134. ( PubMed )

T Morio, S Nonoyama, J Yata: Suppression of in vitro immunoglobulin synthesis by CD16(Leu11a)+ CD56 (NKH1,Leu19)+non-T lineage NK cells; lack of suppression of cells from immunodeficient patients. Clin. Exp. Immunol.. 1989.11; 78 (2): 159-165. ( PubMed )

T Morio, K Takase, H Okawa, M Oguchi, M Kanbara, F Hiruma, K Yoshino, T Kaneko, S Asamura, T Inoue: The increase of non-MHC-restricted cytotoxic cells (γδ-TCR-bearing T cells or NK cells) and the abnormal differentiation of B cells in Wiskott-Aldrich syndrome. Clin. Immunol. Immunopathol.. 1989.08; 52 (2): 279-290. ( PubMed )

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