Ikuo Okuchi, Akira Nishimura, Takahiro Kamiya, Makiko Sasaki, Motoi Yamashita, Akihiro Hoshino, Michiko Kajiwara, Takeshi Isoda, Hirokazu Kanegane, Tomohiro Morio, Masatoshi Takagi: Monitoring measurable residual disease in NUP98::NSD1-positive acute myeloid leukemia. Pediatr Int. 2025.01; 67 (1): e15859. ( PubMed , DOI )

Shizuka Kirino, Ryuichi Nakagawa, Maki Gau, Kei Takasawa, Yasuhiro Murakawa, Hideya Kawaji, Yoshihide Hayashizaki, Tomohiro Morio, Kenichi Kashimada: Analysis of Functional Cis-regulatory Elements Reveals Novel Transcriptional Regulatory Mechanisms in Gonadal Development. Sex Dev. 2025.01; 1-19. ( PubMed , DOI )

Dan Tomomasa, Masatoshi Takagi, Ryohei Watanabe, Ryosuke Wakatsuki, Satoshi Miyamoto, Akihiro Hoshino, Takahiro Kamiya, Takeshi Isoda, Anju Kobayashi, Kenjiro Kosaki, Fumiaki Sakura, Takaki Asano, Toru Uchiyama, Satoshi Okada, Tomohiro Morio, Hirokazu Kanegane: Prolonged diagnostic journey in delayed-onset adenosine deaminase deficiency. Clin Immunol. 2025.01; 270 110405. ( PubMed , DOI )

Inoue K, Tomomasa D, Nakagama Y, Takeuchi H, Tanaka Y, Tanimoto K, Kamiya T, Isoda T, Takagi M, Tanaka K, Yoshifuji K, Miwa Y, Ohnishi H, Okada S, Mori T, Yasuda S, Kido Y, Morio T, Kanegane H: Real-world experience of tixagevimab/cilgavimab prophylaxis in Japanese patients with immunodeficiency. Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy. 2024.12; 31 (2): 102577. ( PubMed , DOI )

Shunsuke Kimura, Chun Shik Park, Lindsey E Montefiori, Ilaria Iacobucci, Petri Polonen, Qingsong Gao, Elizabeth D Arnold, Andishe Attarbaschi, Anthony Brown, Barbara Buldini, Kenneth J Caldwell, Yunchao Chang, Chelsey Chen, Cheng Cheng, Zhongshan Cheng, John Choi, Valentino Conter, Kristine R Crews, Hester A de Groot-Kruseman, Takao Deguchi, Mariko Eguchi, Hannah Elisa Muhle, Sarah Elitzur, Gabriele Escherich, Burgess B Freeman, Zhaohui Gu, Katie Han, Keizo Horibe, Toshihiko Imamura, Sima Jeha, Motohiro Kato, Kean Hui Chiew, Tanya Khan, Michal Kicinski, Stefan Kohrer, Steven M Kornblau, Rishi S Kotecha, Chi-Kong Li, Yen-Chun Liu, Franco Locatelli, Selina M Luger, Elisabeth M Paietta, Atsushi Manabe, Hanne Vibeke Marquart, Riccardo Masetti, Mellissa Maybury, Pauline Mazilier, Jules P P Meijerink, Sharnise Mitchell, Takako Miyamura, Andrew S Moore, Koichi Oshima, Katarzyna Pawinska-Wasikowska, Rob Pieters, Mollie S Prater, Shondra M Pruett-Miller, Ching-Hon Pui, Chunxu Qu, Michaela Reiterova, Noemi Reyes, Kathryn G Roberts, Jacob M Rowe, Atsushi Sato, Kjeld Schmiegelow, Martin Schrappe, Shuhong Shen, Szymon Skoczen, Orietta Spinelli, Jan Stary, Michael Svaton, Masatoshi Takagi, Junko Takita, Yanjing Tang, David T Teachey, Paul G Thomas, Daisuke Tomizawa, Jan Trka, Elena Varotto, Tiffaney L Vincent, Jun J Yang, Allen Ej Yeoh, Yinmei Zhou, Martin Zimmermann, Hiroto Inaba, Charles G Mullighan: Biologic and clinical analysis of childhood gamma delta T-ALL identifies LMO2/STAG2 rearrangements as extremely high-risk. Cancer Discov. 2024.10; 14 (10): 1838-1859. ( PubMed , DOI )

Yuri Suzuki, Ryosei Iemura, Akito Sutani, Yuki Mizuno, Eriko Adachi, Mineko Ushiama, Teruhiko Yoshida, Makoto Hirata, Akihiro Hoshino, Kurara Yamomoto, Takumi Akashi, Yoshiko Nakano, Takeshi Isoda, Kei Takasawa, Motohiro Kato, Masatoshi Takagi, Kentaro Okamoto, Tomohiro Morio, Kenichi Kashimada: Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL. Clin Pediatr Endocrinol. 2024.10; 33 (4): 229-237. ( PubMed , DOI )

Catherine Metayer, Logan G Spector, Michael E Scheurer, Soyoung Jeon, Rodney J Scott, Masatoshi Takagi, Jacqueline Clavel, Atsushi Manabe, Xiaomei Ma, Elleni M Hailu, Philip J Lupo, Kevin Y Urayama, Audrey Bonaventure, Motohiro Kato, Aline Meirhaeghe, Charleston W K Chiang, Libby M Morimoto, Joseph L Wiemels: Folate metabolism and risk of childhood acute lymphoblastic leukemia: a genetic pathway analysis from the Childhood Cancer and Leukemia International Consortium. Cancer Epidemiol Biomarkers Prev. 2024.09; 33 (9): 1248-1252. ( PubMed , DOI )

Sarah Elitzur, Ruth Shiloh, Jan L C Loeffen, Agata Pastorczak, Masatoshi Takagi, Simon Bomken, Andre Baruchel, Thomas Lehrnbecher, Sarah K Tasian, Oussama Abla, Nira Arad-Cohen, Itziar Astigarraga, Miriam Ben-Harosh, Nicole Bodmer, Triantafyllia Brozou, Francesco Ceppi, Liliia Chugaeva, Luciano Dalla Pozza, Stephane Ducassou, Gabriele Escherich, Roula Farah, Amber Gibson, Henrik Hasle, Julieta Hoveyan, Elad Jacoby, Janez Jazbec, Stefanie Junk, Alexandra Kolenova, Jelena Lazic, Luca Lo Nigro, Nizar Mahlaoui, Lane Miller, Vassilios Papadakis, Lucie Pecheux, Marta Pillon, Ifat Sarouk, Jan Stary, Eftichia Stiakaki, Marion Strullu, Thai Hoa Tran, Marek Ussowicz, Jaime Verdu-Amoros, Anna Wakulinska, Joanna Zawitkowska, Dominique Stoppa-Lyonnet, A Malcolm Taylor, Yosef Shiloh, Shai Izraeli, Veronique Minard-Colin, Kjeld Schmiegelow, Ronit Nirel, Andishe Attarbaschi, Arndt Borkhardt: ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies. Blood. 2024.09; 144 (11): 1193-1205. ( PubMed , DOI )

Masatoshi Takagi, Akira Nishimura: [Molecular profiling of myeloid/natural killer (NK) cell precursor acute leukemia]. Rinsho Ketsueki. 2024.09; 65 (9): 1179-1189. ( 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 )

Takasawa Kei, Iemura Ryosei, Orimoto Ryuta, Yamano Haruki, Kirino Shizuka, Adachi Eriko, Saito Yoko, Yamamoto Kurara, Matsuda Nozomi, Takishima Shigeru, Shuno Kumi, Tajima Hanako, Sugie Manabu, Mizuno Yuki, Sutani Akito, Okamoto Kentaro, Masue Michiya, Morio Tomohiro, Kashimada Kenichi: Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experience Clinical Pediatric Endocrinology. 2024.07; 33 (3): 187-194. ( ichushi )

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 )

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, Mao Mizuta, Yasuo Nakagishi, Naomi Iwata, Koji Yokoyama, Junko Yasumura, Keiji Akamine, Kazuyuki Ueno, Shuhei Fujita, Kenichi Watanabe, Shojiro Watanabe, Hiroki Nishikawa, Junya Fujimura, Masaaki Mori, Masaki Shimizu: Serum interleukin-18 levels can improve the diagnostic performance of the PRINTO and ILAR criteria for systemic juvenile idiopathic arthritis. Cytokine. 2024.07; 182 156719. ( 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 )

Noboru Uchida, Tomohiro Ishii, Gen Nishimura, Takeshi Sato, Gen Kuratsuji, Keisuke Nagasaki, Yuki Hosokawa, Eriko Adachi, Kei Takasawa, Kenichi Kashimada, Yuko Tsujioka, Tomonobu Hasegawa: RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review. Am J Med Genet A. 2024.06; 194 (6): e63562. ( PubMed , DOI )

Miyamoto S, Niizato D, Tomomasa D, Nishimura A, Hoshino A, Kamiya T, Isoda T, Takagi M, Kajiwara M, Azumi S, Hirabayashi S, Sakamoto K, Kishimoto K, Miyamura T, Umeda K, Hirose A, Keino D, Yanagimachi M, Kanda K, Sakai Y, Ikawa Y, Watanabe K, Tanaka K, Mori T, Ichinohe T, Sakaguchi H, Morio T, Kanegane H: Allogeneic Hematopoietic cell Transplantation Using Alemtuzumab in Asian Patients with Inborn Errors of Immunity. Journal of clinical immunology. 2024.05; 44 (6): 126. ( 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 )

Manabu S, Nawa N, Noguchi Y, Taki A, Kashimada A, Honda I, Koyama A, Okazaki K, Kondo M, Miyahara H, Ito K, Yamauchi T, Kondo T, Honda-Ozaki F, Kusuda S, Morioka C, Fujiwara T, Morio T, Kashimada K: Stage III Chorioamnionitis Is Associated with Reduced Risk of Severe Retinopathy of Prematurity. The Journal of pediatrics. 2024.05; 114085. ( 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 )

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 )

Kae Takagi, Yui Namikawa, Masayuki Nagasawa, Masahiro Mae, Yoshihiko Watanabe, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Masatoshi Takagi: Somatic variant profiling of a thymoma in Good Syndrome. Clinical Immunology Communications. 2024.02; (5): 12-19. ( DOI )

Masatoshi Takagi, Chihiro Tomoyasu, Junko Yamanaka, Takayuki Hamabata, Takeshi Isoda, Takako Miyamura, Kohsuke Imai: Immunological assessment of a patient with infant acute lymphoblastic leukemia. Pediatr Int. 2024.01; 66 (1): e15738. ( PubMed , DOI )

Takagi Masatoshi, Tomoyasu Chihiro, Yamanaka Junko, Hamabata Takayuki, Isoda Takeshi, Miyamura Takako, Imai Kohsuke: 小児急性リンパ芽球性白血病の患児で行った免疫学的評価(Immunological assessment of a patient with infant acute lymphoblastic leukemia) Pediatrics International. 2024; 66 (1): ped.15738. ( ichushi )

Saki Kanda, Asami Shimbo, Yoshitaka Nakamura, Ryosuke Matsuno, Shuya Kaneko, Hitoshi Irabu, Kazunari Kaneko, Masaki Shimizu: Anti-Ku antibody-positive systemic sclerosis and idiopathic inflammatory myopathies overlap syndrome in children: a report of two cases and a review of the literature. Clin Rheumatol. 2023.12; 42 (12): 3411-3417. ( 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 )

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 )

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;

Salim Ferrani, Thierry Prazuck, Stéphane Béchet, Fabien Lesne, Robert Cohen, Corinne Levy: Diagnostic accuracy of a rapid antigen triple test (SARS-CoV-2, respiratory syncytial virus, and influenza) using anterior nasal swabs versus multiplex RT-PCR in children in an emergency department. Infect Dis Now. 2023.10; 53 (7): 104769. ( PubMed , DOI )

Mayumi Hangai, Takahisa Kawaguchi, Masatoshi Takagi, Keitaro Matsuo, Soyoung Jeon, Charleston W K Chiang, Andrew T Dewan, Adam J De Smith, Toshihiko Imamura, Yasuhiro Okamoto, Akiko M Saito, Takao Deguchi, Michiaki Kubo, Yoichi Tanaka, Yoko Ayukawa, Toshinari Hori, Kentaro Ohki, Nobutaka Kiyokawa, Takeshi Inukai, Yuki Arakawa, Makiko Mori, Daisuke Hasegawa, Daisuke Tomizawa, Hiroko Fukushima, Yuki Yuza, Yasushi Noguchi, Yuichi Taneyama, Setsuo Ota, Hiroaki Goto, Masakatsu Yanagimachi, Dai Keino, Kazutoshi Koike, Daisuke Toyama, Yozo Nakazawa, Kozue Nakamura, Koichi Moriwaki, Yujin Sekinaka, Daisuke Morita, Shinsuke Hirabayashi, Yosuke Hosoya, Yuri Yoshimoto, Hiroki Yoshihara, Miwa Ozawa, Shinobu Kobayashi, Naho Morisaki, Tshewang Gyeltshen, Osamu Takahashi, Yukinori Okada, Makiko Matsuda, Toshihiro Tanaka, Johji Inazawa, Junko Takita, Yasushi Ishida, Akira Ohara, Catherine Metayer, Joseph L Wiemels, Xiaomei Ma, Shuki Mizutani, Katsuyoshi Koh, Yukihide Momozawa, Keizo Horibe, Fumihiko Matsuda, Motohiro Kato, Atsushi Manabe, Kevin Y Urayama: Genome-wide assessment of genetic risk loci for childhood acute lymphoblastic leukemia in Japanese patients. Haematologica. 2023.10; 109 (4): 1247-1252. ( PubMed , DOI )

Analia Yogi, Kenichi Kashimada: Current and future perspectives on clinical management of classic 21-hydroxylase deficiency. Endocr J. 2023.10; 70 (10): 945-957. ( 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 )

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 )

Niiyama S, Fukuda H, Hirata A, Takenaka S, Isoda T: Recalcitrant multiple warts in GATA2 deficiency treated with systemic etretinate. The Journal of dermatology. 2023.08; ( PubMed , DOI )

Kei Takasawa, Hiroyo Mabe, Fusa Nagamatsu, Naoko Amano, Yuichi Miyakawa, Akito Sutani, Reiko Kagawa, Satoshi Okada, Yusuke Tanahashi, Shigeru Suzuki, Shota Hiroshima, Keisuke Nagasaki, Sumito Dateki, Shigeru Takishima, Ikuko Takahashi, Kenichi Kashimada: Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Exploring Influential Factors on Adherence. Patient Prefer Adherence. 2023.08; 17 1885-1894. ( PubMed , DOI )

Renata Neves, Blanca De Dios Perez, Rafal Panek, Sumit Jagani, Sophie Wilne, Jayesh M Bhatt, Caterina Caputi, Emilia Cirillo, David J Coman, Gregor Dückers, Donald L Gilbert, Mary Kay Koenig, Lobna Mansour, Elizabeth McDermott, Micaela Pauni, Claudio Pignata, Susan L Perlman, Oscar Porras, Mariela Betina Porto, Katherine Schon, Pere Soler-Palacin, Sam Nick Russo, Masatoshi Takagi, Marc Tischkowitz, Claire Wainwright, Madhumita Dandapani, Cristine Glazebrook, Mohnish Suri, William P Whitehouse, Robert A Dineen: Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts. Cancer Med. 2023.07; 12 (13): 14663-14673. ( 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 )

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 )

Carolin Escherich, Wenan Chen, Satoshi Miyamoto, Yui Namikawa, Wenjian Yang, David T Teachey, Zhenhua Li, Elizabeth A Raetz, Eric Larsen, Meenakshi Devidas, Paul L Martin, W Paul Bowman, Gang Wu, Ching-Hon Pui, Stephen P Hunger, Mignon L Loh, Masatoshi Takagi, Jun J Yang: Identification of TCF3 germline variants in pediatric B-cell acute lymphoblastic leukemia. Blood Adv. 2023.05; 7 (10): 2177-2180. ( PubMed , DOI )

Anita C S Hokken-Koelega, Manouk van der Steen, Margaret C S Boguszewski, Stefano Cianfarani, Jovanna Dahlgren, Reiko Horikawa, Veronica Mericq, Robert Rapaport, Abdullah Alherbish, Debora Braslavsky, Evangelia Charmandari, Steven D Chernausek, Wayne S Cutfield, Andrew Dauber, Asma Deeb, Wesley J Goedegebuure, Paul L Hofman, Elvira Isganatis, Alexander A Jorge, Christina Kanaka-Gantenbein, Kenichi Kashimada, Vaman Khadilkar, Xiao-Ping Luo, Sarah Mathai, Yuya Nakano, Mabel Yau: International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood. Endocr Rev. 2023.05; 44 (3): 539-565. ( 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 )

Masanori Yoshida, Kazuhiko Nakabayashi, Wentao Yang, Aiko Sato-Otsubo, Shin-Ichi Tsujimoto, Hiroko Ogata-Kawata, Tomoko Kawai, Keisuke Ishiwata, Mika Sakamoto, Kohji Okamura, Kaoru Yoshida, Ryota Shirai, Tomoo Osumi, Chikako Kiyotani, Yoko Shioda, Keita Terashima, Sae Ishimaru, Yuki Yuza, Masatoshi Takagi, Yuki Arakawa, Toshihiko Imamura, Daisuke Hasegawa, Akiko Inoue, Takako Yoshioka, Shuichi Ito, Daisuke Tomizawa, Katsuyoshi Koh, Kimikazu Matsumoto, Nobutaka Kiyokawa, Seishi Ogawa, Atsushi Manabe, Akira Niwa, Kenichiro Hata, Jun J Yang, Motohiro Kato: Prevalence of pathogenic variants in cancer-predisposing genes in second cancer after childhood solid cancers. Cancer Med. 2023.05; 12 (10): 11264-11273. ( 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 )

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 )

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, 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 )

Takeru Kanazawa, Tatsuyuki Ishida, Madoka Shirai, Daiki Niizato, Takeshi Isoda, Yoshifusa Abe, Hirokazu Kanegane: Wiskott-Aldrich syndrome with normal-sized platelets. Pediatr Int. 2023.01; 65 (1): e15453. ( 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 )

Wakatsuki Ryosuke, Shimizu Masaki, Shimbo Asami, Adachi Eriko, Kanamori Toru, Yamazaki Susumu, Udagawa Tomohiro, Takasawa Kei, Kashimada Kenichi, Morio Tomohiro, Mori Masaaki: 全身性エリテマトーデスを伴った萎縮性自己免疫性甲状腺炎(Atrophic autoimmune thyroiditis complicated with systemic lupus erythematosus) Modern Rheumatology Case Reports. 2023.01; 7 (1): 65-67. ( ichushi )

Arisa Nakamura, Eriko Adachi, Yohei Matsubara, Taku Ishii, Susumu Hosokawa, Kenichi Kashimada, Kei Takasawa: Monitoring hypoparathyroidism in long QT syndrome detected by ECG screening. Pediatr Int. 2023.01; e15481. ( PubMed , DOI )

Rifat Ara Najnin, Md Rasel Al Mahmud, Md Maminur Rahman, Shunichi Takeda, Hiroyuki Sasanuma, Hisashi Tanaka, Yasuhiro Murakawa, Naoto Shimizu, Salma Akter, Masatoshi Takagi, Takuro Sunada, Shusuke Akamatsu, Gang He, Junji Itou, Masakazu Toi, Mary Miyaji, Kimiko M Tsutsui, Scott Keeney, Shintaro Yamada: ATM suppresses c-Myc overexpression in the mammary epithelium in response to estrogen. Cell Rep. 2023.01; 42 (1): 111909. ( PubMed , DOI )

Eisei Tsutsumi, Kai Yamasaki, Yoshiko Nakano, Masatoshi Takagi, Junichi Hara: Acute myeloid leukemia post RAS-associated autoimmune leukoproliferative disease. Pediatr Int. 2023.01; 65 (1): e15521. ( PubMed , DOI )

Jumpei Kuroda, Kenichi Kashimada, Kaoru Okazaki: Neonatal alloimmune thrombocytopenia associated with fetomaternal hemorrhage. Pediatr Int. 2023; 65 (1): e15619. ( PubMed , DOI )

Nakamura Arisa, Adachi Eriko, Matsubara Yohei, Ishii Taku, Hosokawa Susumu, Kashimada Kenichi, Takasawa Kei: 心電図スクリーニングで発見されたQT延長症候群例での副甲状腺機能低下症のモニタリング(Monitoring hypoparathyroidism in long QT syndrome detected by electrocardiogram screening) Pediatrics International. 2023; 65 (1): 1 of 3-3 of 3. ( ichushi )

Takizawa Chieko, Nakatani Hisae, Saito Yoko, Tsuji-Hosokawa Atsumi, Kikuchi Eriko, Shimoda Masuhiro, Takasawa Kei: 高カルシウム血症エピソードが出現した常染色体顕性低カルシウム血症の1例(A hypercalcemic episode in an adolescent with autosomal dominant hypocalcemia) Pediatrics International. 2023; 65 (1): 1 of 3-3 of 3. ( ichushi )

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 )

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 )

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 )

Auer Franziska, Escuerdo Adela, Friedrich Ulrike Anne, Stepensky Polina, Borkhardt Arndt, Elitzur Sarah, Takagi Masatoshi, Hauer Julia.: Familial Predisposition to B-Cell Precursor Acute Lymphoblastic Leukemia Mediated By PAX5 Germline Variants. Blood. 2022.11; 140 8888-8889. ( DOI )

Rintaro Ono, Miyuki Tsumura, Saho Shima, Yusuke Matsuda, Kenji Gotoh, Yurina Miyata, Yuko Yoto, Dan Tomomasa, Takanori Utsumi, Hidenori Ohnishi, Zenichiro Kato, Naruhiko Ishiwada, Aki Ishikawa, Taizo Wada, Hisashi Uhara, Ryuta Nishikomori, Daisuke Hasegawa, Satoshi Okada, Hirokazu Kanegane: Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases Journal of Cinical Immunology. 2022.11;

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 Journal of Cinical Immunology. 2022.11;

Dan Tomomasa, Motoi Yamashita, Takahiro Kamiya, Tomohiro Morio, Hirokazu Kanegane: Maternal Gonosomal Mosaicism Causes XIAP Deficiency 2022.11;

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 Frontiers in Immunology. 2022.11;

Kota Fujimoto, Daiki Hashimoto, Kenichi Kashimada, Shinji Kumegawa, Yuko Ueda, Taiju Hyuga, Tsuyoshi Hirashima, Norimitsu Inoue, Kentaro Suzuki, Isao Hara, Shinichi Asamura, Gen Yamada: A visualization system for erectile vascular dynamics. Front Cell Dev Biol. 2022.10; 10 1000342. ( PubMed , DOI )

Yohei Masunaga, Gen Nishimura, Koji Takahashi, Tomiyuki Hishiyama, Masatoshi Imamura, Kenichi Kashimada, Machiko Kadoya, Yoshinao Wada, Nobuhiko Okamoto, Daiju Oba, Hirofumi Ohashi, Mitsuru Ikeno, Yuko Sakamoto, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata: Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG). Sci Rep. 2022.10; 12 (1): 17079. ( 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 )

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 Frontiers in Immunology. 2022.10;

Yoichi Tanaka, Kevin Y Urayama, Makiko Mori, Yuki Arakawa, Daisuke Hasegawa, Yasushi Noguchi, Masakatsu Yanagimachi, Dai Keino, Setsuo Ota, Koshi Akahane, Takeshi Inukai, Mayumi Hangai, Takahisa Kawaguchi, Masatoshi Takagi, Katsuyoshi Koh, Fumihiko Matsuda, Atsushi Manabe: Prominence of NUDT15 genetic variation associated with 6-mercaptopurine tolerance in a genome-wide association study of Japanese children with acute lymphoblastic leukaemia. Br J Haematol. 2022.10; 199 (2): 260-269. ( 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 Clinical Immunology. 2022.09;

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 )

Adela Escudero, Masatoshi Takagi, Franziska Auer, Ulrike Anne Friedrich, Satoshi Miyamoto, Atsushi Ogawa, Kohsuke Imai, Barbara Pascual, María Vela, Polina Stepensky, Layal Yasin, Sarah Elitzur, Arndt Borkhardt, Antonio Pérez-Martínez, Julia Hauer: Clinical and immunophenotypic characteristics of familial leukemia predisposition caused by PAX5 germline variants. Leukemia. 2022.09; 36 (9): 2338-2342. ( PubMed , DOI )

Iemura Ryosei, Kirino Shizuka, Sutani Akito, Kashimada Kenichi, Takasawa Kei: TSHR体細胞変異に起因する自律機能性甲状腺結節(Autonomously functioning thyroid nodule due to a somatic TSHR mutation) Pediatrics International. 2022.08; 64 (1): 1 of 3-3 of 3. ( ichushi )

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 )

Ishii Tomohiro, Kashimada Kenichi, Amano Naoko, Takasawa Kei, Nakamura-Utsunomiya Akari, Yatsuga Shuichi, Mukai Tokuo, Ida Shinobu, Isobe Mitsuhisa, Fukushi Masaru, Satoh Hiroyuki, Yoshino Kaoru, Otsuki Michio, Katabami Takuyuki, Tajima Toshihiro, Differences of Sex Development(DSD) and Adrenal Disorders Committee, Japanese Society for Pediatric Endocrinology, Committee on Mass Screening, Japanese Society for Pediatric Endocrinology, Japanese Society for Neonatal Screening, Japanese Society for Pediatric Urology, Japan Endocrine Society: 21-水酸化酵素欠損症の診断・治療のガイドライン(2021年改訂版)(Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency(2021 revision)) Clinical Pediatric Endocrinology. 2022.07; 31 (3): 116-143. ( ichushi )

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 )

Yamaguchi Yohei, Takasawa Kei, Irabu Hitoshi, Hiratoko Kanako, Ichigi Yosuke, Hirata Ko, Tamura Yumie, Murakoshi Miki, Yamashita Motoi, Nakatani Hisae, Shimoda Masuhiro, Ishii Taku, Udagawa Tomohiro, Shimizu Masaki, Kanegane Hirokazu, Morio Tomohiro: 日本人小児の難治性COVID-19関連多系統炎症性症候群に対するインフリキシマブ治療(Infliximab treatment for refractory COVID-19-associated multisystem inflammatory syndrome in a Japanese child) Journal of Infection and Chemotherapy. 2022.06; 28 (6): 814-818. ( ichushi )

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 )

Kei Takasawa, Kenichi Kashimada: Toward Improving the Transition of Patients With Congenital Adrenal Hyperplasia From Pediatrics to Adult Healthcare in Japan. Front Pediatr. 2022.06; 10 936944. ( 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 )

Tomohiro Ishii, Kenichi Kashimada, Naoko Amano, Kei Takasawa, Akari Nakamura-Utsunomiya, Shuichi Yatsuga, Tokuo Mukai, Shinobu Ida, Mitsuhisa Isobe, Masaru Fukushi, Hiroyuki Satoh, Kaoru Yoshino, Michio Otsuki, Takuyuki Katabami, Toshihiro Tajima: Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision). Clin Pediatr Endocrinol. 2022.04; 31 (3): 116-143. ( PubMed , DOI )

Eguchi Shiori, Isoda Takeshi, Yamaguchi Asuka, Takagi Masatoshi: 出生時に紫斑病を呈したグランツマン血小板無力症の新規変異(Novel variants for Glanzmann thrombasthenia manifesting with purpura at birth) Pediatrics International. 2022.04; 64 (1): 1 of 3-3 of 3. ( ichushi )

Zineb Sbihi, Kay Tanita, Camille Bachelet, Christine Bole, Fabienne Jabot-Hanin, Frederic Tores, Marc Le Loch, Radi Khodr, Akihiro Hoshino, Christelle Lenoir, Matias Oleastro, Mariana Villa, Lucia Spossito, Emma Prieto, Silvia Danielian, Erika Brunet, Capucine Picard, Takashi Taga, Shimaa Said Mohamed Ali Abdrabou, Takeshi Isoda, Masafumi Yamada, Alejandro Palma, Hirokazu Kanegane, Sylvain Latour: Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence. J Clin Immunol. 2022.04; 42 (3): 559-571. ( 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 )

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 )

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 )

Takasawa Kei, Nakamura-Utsunomiya Akari, Amano Naoko, Ishii Tomohiro, Hasegawa Tomonobu, Hasegawa Yukihiro, Tajima Toshihiro, Ida Shinobu: 日本における21-水酸化酵素欠損症に対する移行期医療の現状　小児内分泌医の展望(Current status of transition medicine for 21-hydroxylase deficiency in Japan: from the perspective of pediatric endocrinologists) Endocrine Journal. 2022.01; 69 (1): 75-83. ( ichushi )

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 )

Honda Takaya, Yamaoka Masayoshi, Mikami Terao Yoko, Hasegawa Daisuke, Kumamoto Tadashi, Takagi Masatoshi, Yoshida Kenichi, Ogawa Seishi, Goto Hiroaki, Akiyama Masaharu: フルダラビン、大量シタラビン、その後の非血縁臍帯血移植が奏効した肝脾T細胞リンパ腫(Successful treatment of hepatosplennic T-cell lymphoma with fludarabine, high-dose cytarabine and subsequent unrelated umbilical cord blood transplantation) International Journal of Hematology. 2022.01; 115 (1): 140-145. ( ichushi )

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 )

Eguchi S, Isoda T, Yamaguchi A, Takagi M: Novel variants for Glanzmann thrombasthenia manifesting with purpura at birth. Pediatr Int. 2022.01; 64 (1): e15149. ( PubMed , DOI )

Ryosei Iemura, Shizuka Kirino, Akito Sutani, Kenichi Kashimada, Kei Takasawa: Autonomously functioning thyroid nodule due to a somatic TSHR mutation. Pediatr Int. 2022.01; 64 (1): e15157. ( 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 )

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 )

Kenichi Kashimada: When to eat and sleep matters to children's health. Pediatr Int. 2022.01; 64 (1): e15063. ( 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 )

Takaya Honda, Masayoshi Yamaoka, Yoko Mikami Terao, Daisuke Hasegawa, Tadashi Kumamoto, Masatoshi Takagi, Kenichi Yoshida, Seishi Ogawa, Hiroaki Goto, Masaharu Akiyama: Successful treatment of hepatosplenic T-cell lymphoma with fludarabine, high-dose cytarabine and subsequent unrelated umbilical cord blood transplantation. Int J Hematol. 2022.01; 115 (1): 140-145. ( PubMed , DOI )

Ohkawa Teppei, Nishimura Akira, Kosaki Kenjiro, Aoki-Nogami Yuki, Tomizawa Daisuke, Kashimada Kenichi, Morio Tomohiro, Kato Motohiro, Mizutani Shuki, Takagi Masatoshi: Schuurs-Hoeijmakers症候群におけるPAX3/7-FOXO1融合遺伝子陰性の胞巣型横紋筋肉腫(PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome) Journal of Human Genetics. 2022.01; 67 (1): 51-54. ( ichushi )

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 )

Niizato D, Isoda T, Mitsuiki N, Kaneko S, Tomomasa D, Kamiya T, Takagi M, Imai K, Kajiwara M, Shimizu M, Morio T, Kanegane H: Case report: Optimized ruxolitinib-based therapy in an infant with familial hemophagocytic lymphohistiocytosis type 3. Frontiers in immunology. 2022; 13 977463. ( PubMed , DOI )

Aoyagi Y, Kano Y, Tohyama K, Matsudera S, Kumaki Y, Takahashi K, Mitsumura T, Harada Y, Sato A, Nakamura H, Sueoka E, Aragane N, Kimura K, Onishi I, Takemoto A, Akahoshi K, Ono H, Ishikawa T, Tokunaga M, Nakagawa T, Oshima N, Nakamura R, Takagi M, Asakage T, Uetake H, Tanabe M, Miyake S, Kinugasa Y, Ikeda S: Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study. PloS one. 2022; 17 (3): e0266112. ( PubMed , DOI )

Togo Tomohiro, Suzuki Tomonori, Kashimada Ayako, Takagi Masatoshi, Mizuno Tomoko: Dandy-Walker variantを呈するKBG症候群の2症例報告(Two case reports of KBG syndrome with Dandy-Walker variant) Pediatrics International. 2021.12; 63 (12): 1530-1532. ( ichushi )

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 )

Tomohiro Tago, Tomonori Suzuki, Ayako Kashimada, Masatoshi Takagi, Tomoko Mizuno: Two case reports of KBG syndrome with Dandy-Walker variant. Pediatr Int. 2021.12; 63 (12): 1530-1532. ( PubMed , DOI )

Shotaro Matsudera, Yoshihito Kano, Yasuko Aoyagi, Kohki Tohyama, Kenta Takahashi, Yuichi Kumaki, Takahiro Mitsumura, Koichiro Kimura, Iichiro Onishi, Akira Takemoto, Daisuke Ban, Hiroaki Ono, Atsushi Kudo, Noriko Oshima, Kei Ogino, Shun Watanabe, Yukiko Tani, Takeshi Yamaguchi, Masanobu Nakajima, Shinji Morita, Satoru Yamaguchi, Masatoshi Takagi, Toshiaki Ishikawa, Tsuyoshi Nakagawa, Kentaro Okamoto, Hiroyuki Uetake, Minoru Tanabe, Satoshi Miyake, Takashi Tsuchioka, Kazuyuki Kojima, Sadakatsu Ikeda: A Pilot Study Analyzing the Clinical Utility of Comprehensive Genomic Profiling Using Plasma Cell-Free DNA for Solid Tumor Patients in Japan (PROFILE Study). Ann Surg Oncol. 2021.12; 28 (13): 8497-8505. ( PubMed , DOI )

Masanori Yoshida, Kazuhiko Nakabayashi, Wentao Yang, Aiko Sato-Otsubo, Shin-Ichi Tsujimoto, Hiroko Ogata-Kawata, Tomoko Kawai, Keisuke Ishiwata, Mika Sakamoto, Kohji Okamura, Kaoru Yoshida, Ryota Shirai, Tomoo Osumi, Takaya Moriyama, Rina Nishii, Hiroyuki Takahashi, Chikako Kiyotani, Yoko Shioda, Keita Terashima, Sae Ishimaru, Yuki Yuza, Masatoshi Takagi, Yuki Arakawa, Akitoshi Kinoshita, Moeko Hino, Toshihiko Imamura, Daisuke Hasegawa, Yozo Nakazawa, Mayuko Okuya, Harumi Kakuda, Nao Takasugi, Akiko Inoue, Kentaro Ohki, Takako Yoshioka, Shuichi Ito, Daisuke Tomizawa, Katsuyoshi Koh, Kimikazu Matsumoto, Masashi Sanada, Nobutaka Kiyokawa, Akira Ohara, Seishi Ogawa, Atsushi Manabe, Akira Niwa, Kenichiro Hata, Jun J Yang, Motohiro Kato: NUDT15 variants confer high incidence of second malignancies in children with acute lymphoblastic leukemia. Blood Adv. 2021.12; 5 (23): 5420-5428. ( PubMed , DOI )

Kumamoto Tadashi, Yamazaki Fumito, Nakano Yoshiko, Tamura Chieko, Tashiro Shimon, Hattori Hiroyoshi, Nakagawa Akira, Tsunematsu Yukiko, Hamashima Chisato, Terasawa Teruhiko, Katayama Takafumi, Kaneko Yasuhiko, Suzuki Shigenobu, Kawai Akira, Tajiri Tatsuro, Manabe Atsushi, Takagi Masatoshi, Miyasaka Mikiko, Nozaki Taiki, Takita Junko, Funato Michinori, Ito Michiya, Kakee Naoko, Hishiki Tomoro, Hirabayashi Shinsuke, Mori Tomoaki, Sakurai Akihiro, Fujii Katsunori, Yagata Hiroshi, Shimada Akira, Hiyama Eizou, Muramatsu Hideki, Yao Masahiro, Tsutsumi Masayoshi, Kawakubo Naonori, Yoshida Teruhiko, Nakajima Takeshi, Nakayama Yoshiko, Higuchi Akiko, Kondo Hiroko, Katayama Asako: リー・フラウメニ症候群の診療ガイドライン2019年度版ver.1.1(Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1) International Journal of Clinical Oncology. 2021.12; 26 (12): 2161-2178. ( ichushi )

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 )

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

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

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 )

Asada, K; Komatsu, M; Shimoyama, R; Takasawa, K; Shinkai, N; Sakai, A; Bolatkan, A; Yamada, M; Takahashi, S; Machino, H; Kobayashi, K; Kaneko, S; Hamamoto, R: Application of Artificial Intelligence in COVID-19 Diagnosis and Therapeutics JOURNAL OF PERSONALIZED MEDICINE. 2021.09; 11 (9): ( PubMed , DOI )

Ryota Shirai, Tomoo Osumi, Aiko Sato-Otsubo, Kazuhiko Nakabayashi, Takeshi Mori, Masanori Yoshida, Kaoru Yoshida, Mika Kohri, Takashi Ishihara, Shiho Yasue, Toshihiko Imamura, Mikiya Endo, Satoshi Miyamoto, Kentaro Ohki, Masashi Sanada, Nobutaka Kiyokawa, Seishi Ogawa, Takako Yoshioka, Kenichiro Hata, Masatoshi Takagi, Motohiro Kato: Genetic features of B-cell lymphoblastic lymphoma with TCF3-PBX1. Cancer Rep (Hoboken). 2021.09; 5 (9): e1559. ( PubMed , DOI )

Kaneko, S; Takasawa, K; Asada, K; Shinkai, N; Bolatkan, A; Yamada, M; Takahashi, S; Machino, H; Kobayashi, K; Komatsu, M; Hamamoto, R: Epigenetic Mechanisms Underlying COVID-19 Pathogenesis BIOMEDICINES. 2021.09; 9 (9): ( 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 )

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 )

Nakatani Hisae, Takasawa Kei, Kashimada Kenichi, Morimoto Akira, Oshiba Akihiro, Nagasawa Masayuki: 単骨型ランゲルハンス細胞組織球症の寛解から4年後に発症した6歳の中枢性尿崩症(Central diabetes insipidus developing in a 6-year-old patient 4 years after the remission of unifocal bone Langerhans cell histiocytosis) Clinical Pediatric Endocrinology. 2021.07; 30 (3): 149-153. ( ichushi )

Hisae Nakatani, Kei Takasawa, Kenichi Kashimada, Akira Morimoto, Akihiro Oshiba, Masayuki Nagasawa: Central diabetes insipidus developing in a 6-year-old patient 4 years after the remission of unifocal bone Langerhans cell histiocytosis. Clin Pediatr Endocrinol. 2021.07; 30 (3): 149-153. ( PubMed , DOI )

Yoichi Tanaka, Allen Eng Juh Yeoh, Takaya Moriyama, Chi-Kong Li, Ko Kudo, Yuki Arakawa, Jassada Buaboonnam, Hui Zhang, Hsi-Che Liu, Hany Ariffin, Zhiwei Chen, Shirley K Y Kham, Rina Nishii, Daisuke Hasegawa, Junya Fujimura, Dai Keino, Kensuke Kondoh, Atsushi Sato, Takahiro Ueda, Masaki Yamamoto, Yuichi Taneyama, Moeko Hino, Masatoshi Takagi, Akira Ohara, Etsuro Ito, Katsuyoshi Koh, Hiroki Hori, Atsushi Manabe, Jun J Yang, Motohiro Kato: An international retrospective study for tolerability of 6-mercaptopurine on NUDT15 bi-allelic variants in children with acute lymphoblastic leukemia. Haematologica. 2021.07; 106 (7): 2026-2029. ( 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 )

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 )

Atsumi Tsuji-Hosokawa, Kenichi Kashimada: Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan. Int J Neonatal Screen. 2021.06; 7 (3): 36. ( 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 )

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 )

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 )

Michinori Funato, Yukiko Tsunematsu, Fumito Yamazaki, Chieko Tamura, Tadashi Kumamoto, Masatoshi Takagi, Shunsuke Kato, Haruhiko Sugimura, Kazuo Tamura: Characteristics of Li-Fraumeni Syndrome in Japan; A Review Study by the Special Committee of JSHT. Cancer Sci. 2021.05; 112 (7): 2821-2834. ( PubMed , DOI , ichushi )

Keisuke Nagasaki, Akie Nakamura, Takeru Yamauchi, Hotaka Kamasaki, Yosuke Hara, Junko Kanno, Satomi Koyama, Yoshiaki Ohtsu, Ikuko Takahashi, Shigeru Suzuki, Kenichi Kashimada, Toshihiro Tajima: Investigation of TSH receptor blocking antibodies in childhood-onset atrophic autoimmune thyroiditis. Clin Pediatr Endocrinol. 2021.04; 30 (2): 79-84. ( PubMed , DOI )

Kadowaki S, Hashimoto K, Nishimura T, Kashimada K, Kadowaki T, Kawamoto N, Imai K, Okada S, Kanegane H, Ohnishi H.: Functional analysis of novel A20 variants in patients with atypical inflammatory diseases. Arthritis Res Ther. 2021.02; 23 (1): 52. ( PubMed , DOI )

Hirofumi Haraguchi, Miyuki Harada, Kenichi Kashimada, Reiko Horikawa, Hideya Sakakibara, Makio Shozu, Tomoyuki Fujii, Yutaka Osuga, Koji Kugu: National survey of primary amenorrhea and relevant conditions in Japan. J Obstet Gynaecol Res. 2021.02; 47 (2): 774-777. ( PubMed , DOI )

Kenichi Kashimada: The flash glucose monitoring system is useful but has some limitations. Pediatr Int. 2021.02; 63 (2): 129. ( 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 )

de Groot AP, Saito Y, Kawakami E, Hashimoto M, Aoki Y, Ono R, Ogahara I, Fujiki S, Kaneko A, Sato K, Kajita H, Watanabe T, Takagi M, Tomizawa D, Koh K, Eguchi M, Ishii E, Ohara O, Shultz LD, Mizutani S, Ishikawa F: Targeting critical kinases and anti-apoptotic molecules overcomes steroid resistance in MLL-rearranged leukaemia. EBioMedicine. 2021.02; 64 103235. ( 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 )

Chiho Sugisawa, Makoto Ono, Kenichi Kashimada, Tomonobu Hasegawa, Satoshi Narumi: Inactivation of a Frameshift TSH Receptor Variant Val711Phefs*18 is Due to Acquisition of a Hydrophobic Degron. J Clin Endocrinol Metab. 2021.01; 106 (1): e265-e272. ( PubMed , DOI )

Matsuda Nozomi, Takasawa Kei, Ohata Yasuhisa, Takishima Shigeru, Kubota Takuo, Ishihara Yasuki, Fujiwara Makoto, Ogawa Erika, Morio Tomohiro, Kashimada Kenichi, Ozono Keiichi: 低ホスファターゼ症の表現型に対するアルカリホスファターゼ(ALPL)一塩基多型(c.787T>C)の潜在的な病理学的役割(Potential pathological role of single nucleotide polymorphism(c.787T>C) in alkaline phosphatase(ALPL) for the phenotypes of hypophosphatasia) Endocrine Journal. 2020.12; 67 (12): 1227-1232. ( ichushi )

Tomomasa Dan, Isoda Takeshi, Yamashita Motoi, Morishita Aoi, Mitsuiki Noriko, Kamiya Takahiro, Imai Kohsuke, Kanegane Hirokazu, Takagi Masatoshi, Morio Tomohiro: Ruxolitinib Administration for Two Cases with Steroid-Refractory Lung GVHD PEDIATRIC BLOOD & CANCER. 2020.12; 67

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 )

Isoda Takeshi, Nishimura Akira, Morio Tomohiro, Takagi Masatoshi: Non-Coding RNA ThymoD Transcription Specifies T-Cell Fate and Inhibits T-Cell Malignancies PEDIATRIC BLOOD & CANCER. 2020.12; 67

Endo Akifumi, Yamashita Motoi, Kamiya Takahiro, Mitsuiki Noriko, Isoda Takeshi, Imai Kohsuke, Takagi Masatoshi, Kajiwara Michiko, Kanegane Hirokazu, Morio Tomohiro: A Retrospective Study of Six Cases of HLA Haplo-Identical Hematopoietic Stem Cell Transplantation with Post-Transplant Cyclophosphamide PEDIATRIC BLOOD & CANCER. 2020.12; 67

Masanori Yoshida, Kanako Tanase-Nakao, Hirohito Shima, Ryota Shirai, Kaoru Yoshida, Tomoo Osumi, Takao Deguchi, Makiko Mori, Yuki Arakawa, Masatoshi Takagi, Takako Miyamura, Kimiyoshi Sakaguchi, Hidemi Toyoda, Hisashi Ishida, Naoki Sakata, Toshihiko Imamura, Yuta Kawahara, Akira Morimoto, Takashi Koike, Hiroshi Yagasaki, Shuichi Ito, Daisuke Tomizawa, Nobutaka Kiyokawa, Satoshi Narumi, Motohiro Kato: Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7. Br J Haematol. 2020.12; 191 (5): 835-843. ( PubMed , DOI )

Tomohiro Ishii, Toshihiro Tajima, Kenichi Kashimada, Tokuo Mukai, Yusuke Tanahashi, Noriyuki Katsumata, Junko Kanno, Takashi Hamajima, Kenichi Miyako, Shinobu Ida, Tomonobu Hasegawa: Clinical features of 57 patients with lipoid congenital adrenal hyperplasia: criteria for nonclassic form revisited. J Clin Endocrinol Metab. 2020.11; 105 (11): dgaa557. ( 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 )

Okada Kenji, Mizuno Mihoko, Moriuchi Hiroyuki, Kusuda Satoshi, Morioka Ichiro, Mori Masaaki, Okamoto Keisuke, Okada Kuniyuki, Yoshihara Shigemi, Yamagishi Hiroyuki, Yokoyama Utako, Kubota Tomohiro, Kudo Kazuko, Takagi Masatoshi, Ito Shuichi, Kanamori Yutaka, Sasahara Yoji, Japan Pediatric Society, Japan Society for Neonatal Health and Development, Japanese Society for Pediatric Infectious Diseases, Pediatric Rheumatology Association of Japan, Japanese Society of Pediatric Pulmonology, Japanese Society of Pediatric Cardiology and Cardiac Surgery, The Japanese Society of Pediatric Hematology/Oncology, Japanese Society for Pediatric Nephrology, The Japanese Society of Pediatric Surgeons, Japanese Society for Immunodeficiency and Autoinflammatory Diseases: 「日本におけるパリビズマブの使用に関するガイドライン」改訂検討ワーキンググループ　委員会報告(The Working Group for Revision of "Guidelines for the Use of Palivizumab in Japan": A Committee Report) Pediatrics International. 2020.11; 62 (11): 1223-1229. ( ichushi )

Kenji Okada, Mihoko Mizuno, Hiroyuki Moriuchi, Satoshi Kusuda, Ichiro Morioka, Masaaki Mori, Keisuke Okamoto, Kuniyuki Okada, Shigemi Yoshihara, Hiroyuki Yamagishi, Utako Yokoyama, Tomohiro Kubota, Kazuko Kudo, Masatoshi Takagi, Shuichi Ito, Yutaka Kanamori, Yoji Sasahara: The Working Group for Revision of "Guidelines for the Use of Palivizumab in Japan": A Committee Report. Pediatr Int. 2020.11; 62 (11): 1223-1229. ( 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 )

Yatsuga Shuichi, Amano Naoko, Nakamura-Utsunomiya Akari, Kobayashi Hironori, Takasawa Kei, Nagasaki Keisuke, Nakamura Akie, Nishigaki Satsuki, Numakura Chikahiko, Fujiwara Ikuma, Minamitani Kanshi, Hasegawa Tomonobu, Tajima Toshihiro: チトクロームP450酸化還元酵素欠損症の臨床的特徴　日本で行った全国調査(Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan) Endocrine Journal. 2020.08; 67 (8): 853-857. ( ichushi )

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 )

Yatsuga Shuichi, Amano Naoko, Nakamura-Utsunomiya Akari, Kobayashi Hironori, Takasawa Kei, Nagasaki Keisuke, Nakamura Akie, Nishigaki Satsuki, Numakura Chikahiko, Fujiwara Ikuma, Minamitani Kanshi, Hasegawa Tomonobu, Tajima Toshihiro: Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan. ENDOCRINE JOURNAL. 2020.08; 67 (8): 853-857. ( DOI )

Miyaoka Futaba, Toyofuku Etsushi, Isoda Takeshi, Moiro Tomohiro, Kanegane Hirokazu: グルコース-6-リン酸脱水素酵素欠乏症の症例で生じたインフルエンザ誘発性の溶血クリーゼ(Influenza-induced hemolytic crisis in glucose-6-phosphate dehydrogenase deficiency) Pediatrics International. 2020.08; 62 (8): 1003-1004. ( ichushi )

Yoshino Hiroshi, Nishiyama Yohei, Kamma Hiroshi, Chiba Tomohiro, Fujiwara Masachika, Karaho Takehiro, Kogashiwa Yasunao, Morio Tomohiro, Yan Kunimasa, Bessho Fumio, Takagi Masatoshi: 小児期の遺伝性血小板減少症、急性リンパ芽球性白血病、唾液腺癌に関連する生殖細胞系列ETV6変異型の機能的特性(Functional characterization of a germline ETV6 variant associated with inherited thrombocytopenia, acute lymphoblastic leukemia, and salivary gland carcinoma in childhood) International Journal of Hematology. 2020.08; 112 (2): 217-222. ( ichushi )

Yoshino Hiroshi, Nishiyama Yohei, Kamma Hiroshi, Chiba Tomohiro, Fujiwara Masachika, Karaho Takehiro, Kogashiwa Yasunao, Morio Tomohiro, Yan Kunimasa, Bessho Fumio, Takagi Masatoshi: 小児期の遺伝性血小板減少症、急性リンパ芽球性白血病、唾液腺癌に関連する生殖細胞系列ETV6変異型の機能的特性(Functional characterization of a germline ETV6 variant associated with inherited thrombocytopenia, acute lymphoblastic leukemia, and salivary gland carcinoma in childhood) International Journal of Hematology. 2020.08; 112 (2): 217-222. ( ichushi )

Nakano Y, Komiya C, Shimizu H, Mishima H, Shiba K, Tsujimoto K, Ikeda K, Kashimada K, Dateki S, Yoshiura KI, Ogawa Y, Yamada T: A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5. Endocrine Journal. 2020.07; 67 (11): 1099-1105. ( PubMed , 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 )

Hisashi Ishida, Yuji Miyajima, Nobuyuki Hyakuna, Satoru Hamada, Takeo Sarashina, Risa Matsumura, Katsutsugu Umeda, Tetsuo Mitsui, Naoto Fujita, Daisuke Tomizawa, Kevin Y Urayama, Yasushi Ishida, Takashi Taga, Masatoshi Takagi, Souichi Adachi, Atsushi Manabe, Toshihiko Imamura, Katsuyoshi Koh, Akira Shimada, Leukemia/Lymphoma Committee of the Japanese Society of Pediatric Hematology Oncology (JSPHO): Clinical features of children with polycythemia vera, essential thrombocythemia, and primary myelofibrosis in Japan: A retrospective nationwide survey. eHaem. 2020.07; 1 (1): 86-93. ( 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 )

Shigeru Takishima, Tomotaka Kono, Kei Takasawa, Kenichi Kashimada, Hiroshi Mochizuki: Nocturnal enuresis is a possible symptom of pediatric paraganglioma: A case report. Clin Pediatr Endocrinol. 2020.04; 29 (2): 85-87. ( PubMed , DOI )

Takishima Shigeru, Kono Tomotaka, Takasawa Kei, Kashimada Kenichi, Mochizuki Hiroshi: 夜間遺尿は小児傍神経節腫の一症状の可能性がある　1例報告(Nocturnal enuresis is a possible symptom of pediatric paraganglioma: A case report) Clinical Pediatric Endocrinology. 2020.04; 29 (2): 85-87. ( ichushi )

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 )

Denholtz Matthew, Zhu Yina, He Zhaoren, Lu Hanbin, Isoda Takeshi, Dohrmann Simon, Nizet Victor, Murre Cornelis: Upon microbial challenge, human neutrophils undergo rapid changes in nuclear architecture and chromatin folding to orchestrate an immediate inflammatory gene program GENES & DEVELOPMENT. 2020.02; 34 (3-4): 149-165. ( 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 )

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 )

Nadia Y Edelsztein, Kenichi Kashimada, Helena F Schteingart, Rodolfo A Rey: CYP26B1 declines postnatally in Sertoli cells independently of androgen action in the mouse testis. Mol. Reprod. Dev. 2020.01; 87 (1): 66-77. ( PubMed , DOI )

Kiyokawa, N; Ohki, K; Takahashi, H; Fukushima, T; Kato, M; Goto, H; Hino, M; Shimada, H; Takagi, M; Yuza, Y; Arakawa, A; Suwabe, S; Kato, K; Manabe, A; Ohara, A; Inukai, T; Hasegawa, D; Tomizawa, D; Koh, K: Gene Expression Profiling Defines Clinical Subgroups of Pediatric BCP-ALL Lacking Major Pathogenic Abnormalities: Results from the TCCSG L04-16 Study PEDIATRIC BLOOD & CANCER. 2019.12; 66 S25-S26.

Kiyokawa, N; Ohki, K; Takahashi, H; Fukushima, T; Kato, M; Goto, H; Hino, M; Shimada, H; Takagi, M; Yuza, Y; Arakawa, A; Suwabe, S; Kato, K; Manabe, A; Ohara, A; Inukai, T; Hasegawa, D; Tomizawa, D; Koh, K: Gene Expression Profiling Defines Clinical Subgroups of Pediatric BCP-ALL Lacking Major Pathogenic Abnormalities: Results from the TCCSG L04-16 Study PEDIATRIC BLOOD & CANCER. 2019.12; 66 S25-S26.

Hatano Maho, Tomoda Takahiro, Okano Tsubasa, Nunoda Issei, Morishita Aoi, Inoue Kent, Yamashita Motoi, Endo Akifumi, Kamiya Takahiro, Isoda Takeshi, Yanagimachi Masakatsu, Takagi Masatoshi, Kanegane Hirokazu, Okuno Keisuke, Imai Kohsuke, Morio Tomohiro: Intrinsically Vancomycin Resistant Enterococcal (Enterococcus Gallinarum) Meningitis Occurred Early After Hematopoietic Stem Cell Transplantation for Activated PI3K Delta Syndrome Type 2 PEDIATRIC BLOOD & CANCER. 2019.12; 66 S124.

Nunoda Issei, Tomoda Takahiro, Kamiya Takahiro, Okano Tsubasa, Hatano Maho, Yoshimoto Yuri, Muramatsu Hideki, Morishita Aoi, Inoue Kento, Yamashita Motoi, Endo Akifumi, Yanagimachi Masakatsu, Isoda Takeshi, Kanegane Hirokazu, Takagi Masatoshi, Imai Kohsuke, Morio Tomohiro: Efficacy of Azacitidine for MDS Due to Germline GATA2 Haploinsufficiency PEDIATRIC BLOOD & CANCER. 2019.12; 66 S45.

Tomoda Takahiro, Nishimura Akira, Ono Rintaro, Isoda Takeshi, Inoue Maiko, Kamiya Takahiro, Yanagimachi Masakatsu, Imai Kohsuke, Kanegane Hirokazu, Hasegawa Daisuke, Morio Tomohiro, Manabe Atsushi, Takagi Masatoshi: Clonal Evolution of Leukemia With MLL-AF9 from Myeloid to T-Lineage PEDIATRIC BLOOD & CANCER. 2019.12; 66 S111.

Hosokawa Yuki, Higuchi Shinji, Kawakita Rie, Hata Ikue, Urakami Tatsuhiko, Isojima Tsuyoshi, Takasawa Kei, Matsubara Yohei, Mizuno Haruo, Maruo Yoshihiro, Matsui Katsuyuki, Aizu Katsuya, Jinno Kazuhiko, Araki Shunsuke, Fujisawa Yasuko, Osugi Koji, Tono Chikako, Takeshima Yasuhiro, Yorifuji Tohru: 日本人のグルコキナーゼ若年発症成人型糖尿病患者の妊娠アウトカム(Pregnancy outcome of Japanese patients with glucokinase-maturity-onset diabetes of the young) Journal of Diabetes Investigation. 2019.11; 10 (6): 1586-1589. ( ichushi )

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 )

Hosokawa Yuki, Higuchi Shinji, Kawakita Rie, Hata Ikue, Urakami Tatsuhiko, Isojima Tsuyoshi, Takasawa Kei, Matsubara Yohei, Mizuno Haruo, Maruo Yoshihiro, Matsui Katsuyuki, Aizu Katsuya, Jinno Kazuhiko, Araki Shunsuke, Fujisawa Yasuko, Osugi Koji, Tono Chikako, Takeshima Yasuhiro, Yorifuji Tohru: Pregnancy outcome of Japanese patients with glucokinase-maturity-onset diabetes of the young. JOURNAL OF DIABETES INVESTIGATION. 2019.11; 10 (6): 1586-1589. ( 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 )

Sutani Akito, Miyakawa Yuichi, Tsuji-Hosokawa Atsumi, Nomura Risa, Nakagawa Ryuichi, Nakajima Keisuke, Maru Mitsue, Aoki Yuki, Takasawa Kei, Takagi Masatoshi, Imai Kohsuke, Kashimada Kenichi, Morio Tomohiro: 非悪性疾患に対する造血幹細胞移植後の女性患者における性腺機能不全(Gonadal failure among female patients after hematopoietic stem cell transplantation for non-malignant diseases) Clinical Pediatric Endocrinology. 2019.10; 28 (4): 105-112. ( ichushi )

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 )

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 Akito, Miyakawa Yuichi, Tsuji-Hosokawa Atsumi, Nomura Risa, Nakagawa Ryuichi, Nakajima Keisuke, Maru Mitsue, Aoki Yuki, Takasawa Kei, Takagi Masatoshi, Imai Kohsuke, Kashimada Kenichi, Morio Tomohiro: 非悪性疾患に対する造血幹細胞移植後の女性患者における性腺機能不全(Gonadal failure among female patients after hematopoietic stem cell transplantation for non-malignant diseases) Clinical Pediatric Endocrinology. 2019.10; 28 (4): 105-112. ( ichushi )

Atsushi Watanabe, Takeshi Inukai, Keiko Kagami, Masako Abe, Masatoshi Takagi, Takashi Fukushima, Hiroko Fukushima, Toru Nanmoku, Kiminori Terui, Tatsuya Ito, Tsutomu Toki, Etsuro Ito, Junya Fujimura, Hiroaki Goto, Mikiya Endo, Thomas Look, Mark Kamps, Masayoshi Minegishi, Junko Takita, Toshiya Inaba, Hiroyuki Takahashi, Akira Ohara, Daisuke Harama, Tamao Shinohara, Shinpei Somazu, Hiroko Oshiro, Koshi Akahane, Kumiko Goi, Kanji Sugita: Resistance of t(17;19)-acute lymphoblastic leukemia cell lines to multiagents in induction therapy. Cancer Med. 2019.09; 8 (11): 5274-5288. ( 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 )

Isoda Takeshi, Morio Tomohiro, Takagi Masatoshi: がんのエンハンサー部位で生じるノンコーディングRNAの転写現象とゲノムの折りたたみ(Noncoding RNA transcription at enhancers and genome folding in cancer) Cancer Science. 2019.08; 110 (8): 2328-2336. ( ichushi )

Tomoko Mizuno, Ayako Kashimada, Toshihiro Nomura, Kengo Moriyama, Haruna Yokoyama, Setsuko Hasegawa, Masatoshi Takagi, Shuki Mizutani: Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report. Brain Dev. 2019.08; 41 (7): 630-633. ( PubMed , DOI )

Nishimura Akira, Aoki Yuki, Ishiwata Yasuyoshi, Inoue Maiko, Ichimura Takuya, Ueyama Junichi, Matsumoto Kazuaki, Inoue Kento, Hiroki Haruka, Ono Shintaro, Okano Tsubasa, Tanaka Mari, Miyamoto Satoshi, Ashiarai Miho, Miyawaki Reiji, Yamagishi Chika, Tezuka Mari, Okawa Teppei, Hoshino Akihiro, Endo Akifumi, Yasuhara Masato, Kamiya Takahiro, Mitsuiki Noriko, Ono Toshiaki, Yanagimachi Masakatsu, Isoda Takeshi, Tomizawa Daisuke, Nagasawa Masayuki, Kajiwara Michiko, Takagi Masatoshi, Mizutani Shuki, Kanegane Hirokazu, Imai Kohsuke, Morio Tomohiro: Hematopoietic cell transplantation with reduced intensity conditioning regimen using fludarabine/busulfan and fludarabine/melphalan for primary immunodeficiency diseases BONE MARROW TRANSPLANTATION. 2019.07; 54 390-391.

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 )

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 )

Miyakawa Yuichi, Takasawa Kei, Matsubara Yohei, Ihara Kenji, Ohtsu Yoshiaki, Kamasaki Hotaka, Kitsuda Kazuteru, Kobayashi Hironori, Satoh Mari, Sano Sinichiro, Dateki Sumito, Mochizuki Hiroshi, Yokota Ichiro, Hasegawa Yukihiro, Kashimada Kenichi: 言語発達遅滞とcatch-upは偽性副甲状腺機能低下症1a型の小児期における臨床的特徴(Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood) Endocrine Journal. 2019.03; 66 (3): 215-221. ( ichushi )

Miyakawa Yuichi, Takasawa Kei, Matsubara Yohei, Ihara Kenji, Ohtsu Yoshiaki, Kamasaki Hotaka, Kitsuda Kazuteru, Kobayashi Hironori, Satoh Mari, Sano Sinichiro, Dateki Sumito, Mochizuki Hiroshi, Yokota Ichiro, Hasegawa Yukihiro, Kashimada Kenichi: Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood. ENDOCRINE JOURNAL. 2019.03; 66 (3): 215-221. ( PubMed , DOI )

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 )

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 )

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 )

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 )

Masatoshi Takagi, Chitose Ogawa, Yuki Aoki-Nogami, Tomoko Iehara, Eri Ishibashi, Minoru Imai, Tetsuro Kihara, Kiyoshi Nobori, Kazuhisa Hasebe, Shuki Mizutani, Toshimi Kimura, Masashi Nagata, Masato Yasuhara, Kenichi Yoshimura, Pariko Yorozu, Hajime Hosoi, Ryuji Koike: Phase I clinical study of oral olaparib in pediatric patients with refractory solid tumors: study protocol. BMC Pediatr. 2019.01; 19 (1): 31. ( 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 INSR. J Diabetes. 2019.01; 11 (1): 46-54. ( PubMed , DOI )

Fukuda Atsuna, Isoda Takeshi, Sakamoto Naoya, Nakajima Keisuke, Ohta Tetsuya: Lessons from a patient with cardiac arrest due to massive pulmonary embolism as the initial presentation of Wilms tumor: a case report and literature review BMC PEDIATRICS. 2019.01; 19 (1): 39. ( PubMed , DOI )

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.

Takai S, Takasawa K, Doi S: Atypical coronary artery aneurysms due to Kawasaki disease in Noonan syndrome with a novel PTPN11 mutation. Cardiol Young. 2018.12; 4 1-3. ( DOI )

Acerini CL, Segal D, Criseno S, Takasawa K, Nedjatian N, Röhrich S, Maghnie M.: Shared Decision-Making in Growth Hormone Therapy – Implications for Patient Care Front Endocrinol (Lausanne). 2018.11; 22 (9): 688.

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.

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 )

Takashi Taga, Toshihiko Imamura, Kentaro Nakashima, Naoko Maeda, Akihiro Watanabe, Yuji Miyajima, Sachi Sakaguchi, Hitoshi Sano, Daiichiro Hasegawa, Hirohide Kawasaki, Souichi Adachi, Masatoshi Takagi, Katsuyoshi Koh, Atsushi Manabe, Tomohiko Taki, Yasushi Ishida: Clinical characteristics of pediatric patients with myeloid sarcoma without bone marrow involvement in Japan. Int J Hematol. 2018.10; 108 (4): 438-442. ( 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 )

Osumi, T; Mori, T; Ueyama, JI; Fukano, R; Sekimizu, M; Takagi, M; Yagasaki, H; Nishimura, R; Ikeda, J; Ogura, T; Fujimura, J; Kobayashi, R: Intrathecal or intraventricular infusion of rituximab for children with B-cell lymphoid malignancies and central nervous system disease BRITISH JOURNAL OF HAEMATOLOGY. 2018.09; 182 72.

Osumi, T; Mori, T; Ueyama, JI; Fukano, R; Sekimizu, M; Takagi, M; Yagasaki, H; Nishimura, R; Ikeda, J; Ogura, T; Fujimura, J; Kobayashi, R: Intrathecal or intraventricular infusion of rituximab for children with B-cell lymphoid malignancies and central nervous system disease BRITISH JOURNAL OF HAEMATOLOGY. 2018.09; 182 72.

Ono Shintaro, Nakayama Manabu, Kanegane Hirokazu, Hoshino Akihiro, Shimodera Saeko, Shibata Hirofumi, Fujino Hisanori, Fujino Takahiro, Yunomae Yuta, Okano Tsubasa, Yamashita Motoi, Yasumi Takahiro, Izawa Kazushi, Takagi Masatoshi, Imai Kohsuke, Zhang Kejian, Marsh Rebecca, Picard Capucine, Latour Sylvain, Ohara Osamu, Morio Tomohiro: 次世代シークエンスを用いたEpstein-Barrウイルス関連リンパ増殖性疾患の包括的分子診断(Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing) International Journal of Hematology. 2018.09; 108 (3): 319-328. ( ichushi )

Ono Shintaro, Nakayama Manabu, Kanegane Hirokazu, Hoshino Akihiro, Shimodera Saeko, Shibata Hirofumi, Fujino Hisanori, Fujino Takahiro, Yunomae Yuta, Okano Tsubasa, Yamashita Motoi, Yasumi Takahiro, Izawa Kazushi, Takagi Masatoshi, Imai Kohsuke, Zhang Kejian, Marsh Rebecca, Picard Capucine, Latour Sylvain, Ohara Osamu, Morio Tomohiro: 次世代シークエンスを用いたEpstein-Barrウイルス関連リンパ増殖性疾患の包括的分子診断(Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing) International Journal of Hematology. 2018.09; 108 (3): 319-328. ( ichushi )

Imamura T, Taga T, Takagi M, Kawasaki H, Koh K, Taki T, Adachi S, Manabe A, Ishida Y; Leukemia/Lymphoma Committee; Japanese Society of Pediatric Hematology Oncology (JSPHO).: Nationwide survey of therapy-related leukemia in childhood in Japan. International Journal of Hematology. 2018.07; 108 (1): 91-97. ( PubMed , DOI , ichushi )

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 )

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 )

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 )

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 )

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 )

Shimbo Asami, Takasawa Kei, Nishioka Masato, Morio Tomohiro, Shimohira Masayuki: 免疫正常小児2例に生じたリステリア髄膜炎(Complications of Listeria meningitis in two immunocompetent children) Pediatrics International. 2018.05; 60 (5): 491-492. ( ichushi )

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 )

Schwab C, Gabrysch A, Olbrich P, Patiño V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom D, Lucena JM, Seidl M, Schmitt-Gräff A, Reiser V, Emmerich F, Frede N, Bulashevska A, Salzer U, Schubert D, Hayakawa S, Okada S, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Sumnik Z, Sediva A, Slatter M, Arkwright PD, Cant A, Lorenz HM, Giese T, Lougaris V, Plebani A, Price C, Sullivan KE, Moutschen M, Litzman J, Freiberger T, van de Veerdonk FL, Recher M, Albert MH, Hauck F, Seneviratne S, Schmid JP, Kolios A, Unglik G, Klemann C, Speckmann C, Ehl S, Leichtner A, Blumberg R, Franke A, Snapper S, Zeissig S, Cunningham-Rundles C, Giulino-Roth L, Elemento O, Dückers G, Niehues T, Fronkova E, Kanderová V, Platt CD, Chou J, Chatila T, Geha R, McDermott E, Bunn S, Kurzai M, Schulz A, Alsina L, Casals F, Deyà-Martinez A, Hambleton S, Kanegane H, Taskén K, Neth O, Grimbacher B.: Phenotype, penetrance, and treatment of 133 CTLA-4-insufficient individuals. J. Allergy Clin. Immunol.. 2018.05; ( PubMed , DOI )

Teruyoshi Shimoyama, Nozomi Matsuda, Masashi Kurobe, Takehiko Hayakawa, Masato Nishioka, Masayuki Shimohira, Kei Takasawa: Colonoscopic diagnosis and reduction of recurrent intussusception owing to Henoch-Schönlein purpura without purpura. Paediatr Int Child Health. 2018.04; 1-5. ( 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 )

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 )

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 )

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 )

Tomohiro Ishii, Masanori Adachi, Kei Takasawa, Satoshi Okada, Hotaka Kamasaki, Takuo Kubota, Hironori Kobayashi, Hirotake Sawada, Keisuke Nagasaki, Chikahiko Numakura, Shohei Harada, Kanshi Minamitani, Shigetaka Sugihara, Toshihiro Tajima: Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan. Horm Res Paediatr. 2018.02; 89 (3): 166-171. ( 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 )

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 )

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 )

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 )

Matsuda Nozomi, Taki Atsuko, Tsuji Atsumi, Nakajima Keisuke, Takasawa Kei, Morioka Chikako, Minosaki Yoshihiro, Oku Kikuko, Kashimada Kenichi, Morio Tomohiro: 在胎週数の割に小さく産まれた超低出生体重児における3歳時点での成長と発達に影響を与える周産期要因(Perinatal factors affecting growth and development at age 3 years in extremely low birth weight infants born small for gestational age) Clinical Pediatric Endocrinology. 2018.01; 27 (1): 31-38. ( ichushi )

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 )

Kevin Y Urayama, Masatoshi Takagi, Takahisa Kawaguchi, Keitaro Matsuo, Yoichi Tanaka, Yoko Ayukawa, Yuki Arakawa, Daisuke Hasegawa, Yuki Yuza, Takashi Kaneko, Yasushi Noguchi, Yuichi Taneyama, Setsuo Ota, Takeshi Inukai, Masakatsu Yanagimachi, Dai Keino, Kazutoshi Koike, Daisuke Toyama, Yozo Nakazawa, Hidemitsu Kurosawa, Kozue Nakamura, Koichi Moriwaki, Hiroaki Goto, Yujin Sekinaka, Daisuke Morita, Motohiro Kato, Junko Takita, Toshihiro Tanaka, Johji Inazawa, Katsuyoshi Koh, Yasushi Ishida, Akira Ohara, Shuki Mizutani, Fumihiko Matsuda, Atsushi Manabe: Regional evaluation of childhood acute lymphoblastic leukemia genetic susceptibility loci among Japanese. Sci Rep. 2018.01; 8 (1): 789. ( PubMed , DOI )

Acerini CL, Segal D, Criseno S, Takasawa K, Nedjatian N, Röhrich S, Maghnie M: Shared Decision-Making in Growth Hormone Therapy-Implications for Patient Care. Frontiers in endocrinology. 2018; 9 688. ( PubMed , DOI )

Matsuda N, Taki A, Tsuji A, Nakajima K, Takasawa K, Morioka C, Minosaki Y, Oku K, Kashimada K, Morio T: Perinatal factors affecting growth and development at age 3 years in extremely low birth weight infants born small for gestational age. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. 2018; 27 (1): 31-38. ( PubMed , DOI )

Kurokami T, Takasawa R, Takeda S, Kurobe M, Takasawa K, Nishioka M, Shimohira M: Venous thromboembolism in two adolescents with Down syndrome. The Turkish journal of pediatrics. 2018; 60 (4): 429-432. ( PubMed )

Kurokami Tsunehiko, Takasawa Reiko, Takeda Sayaka, Kurobe Masashi, Takasawa Kei, Nishioka Masato, Shimohira Masayuki: Venous thromboembolism in two adolescents with Down syndrome TURKISH JOURNAL OF PEDIATRICS. 2018; 60 (4): 429-432. ( 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 )

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 )

Nomura R, Miyai K, Nishimura G, Kashimada K, Morio T: Myhre syndrome: Age-dependent progressive phenotype Pediatrics International. 2017.11; 59 (11): 1205-1206.

Kaoru Satoh, Yoko Wakejima, Maki Gau, Tomoyuki Kiguchi, Nozomi Matsuda, Reiko Takasawa, Kei Takasawa, Masato Nishioka, Masayuki Shimohira: Risk of coronary artery lesions in young infants with Kawasaki disease: need for a new diagnostic method. Int J Rheum Dis. 2017.11; ( 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 )

M Ratnaparkhe, M Hlevnjak, T Kolb, A Jauch, K K Maass, F Devens, A Rode, V Hovestadt, A Korshunov, A Pastorczak, W Mlynarski, S Sungalee, J Korbel, J Hoell, U Fischer, T Milde, C Kramm, M Nathrath, K Chrzanowska, E Tausch, M Takagi, T Taga, S Constantini, J Loeffen, J Meijerink, S Zielen, G Gohring, B Schlegelberger, E Maass, R Siebert, J Kunz, A E Kulozik, B Worst, D T Jones, S M Pfister, M Zapatka, P Lichter, A Ernst: Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis. Leukemia. 2017.10; 31 (10): 2048-2056. ( PubMed , DOI )

Nagasaki Keisuke, Kubota Takuo, Kobayashi Hironori, Sawada Hirotake, Numakura Chikahiko, Harada Shohei, Takasawa Kei, Minamitani Kanshi, Ishii Tomohiro, Okada Satoshi, Kamasaki Hotaka, Sugihara Shigetaka, Adachi Masanori, Tajima Toshihiro: 日本における先天性中枢性甲状腺機能低下症を伴う中隔視神経形成異常症の臨床的特徴(Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan) Clinical Pediatric Endocrinology. 2017.10; 26 (4): 207-213. ( ichushi )

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 )

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. 2017.10; 18 (8): 917-924. ( 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 )

Keisuke Nagasaki, Takuo Kubota, Hironori Kobayashi, Hirotake Sawada, Chikahiko Numakura, Shohei Harada, Kei Takasawa, Kanshi Minamitani, Tomohiro Ishii, Satoshi Okada, Hotaka Kamasaki, Shigetaka Sugihara, Masanori Adachi, Toshihiro Tajima: Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan. Clin Pediatr Endocrinol. 2017.09; 26 (4): 207-213. ( PubMed , DOI )

Isoda T, Moore AJ, He Z, Chandra V, Aida M, Denholtz M, Piet van Hamburg J, Fisch KM, Chang AN, Fahl SP, Wiest DL, Murre C: Non-coding Transcription Instructs Chromatin Folding and Compartmentalization to Dictate Enhancer-Promoter Communication and T Cell Fate. Cell. 2017.09; 171 (1): 103-119.e18. ( PubMed , DOI )

Dekker J, Belmont AS, Guttman M, Leshyk VO, Lis JT, Lomvardas S, Mirny LA, O'Shea CC, Park PJ, Ren B,Politz JCR, Shendure J, Zhong S, 4D Nucleome Network(…Sasaki T, Isoda T, Misteli T…): The 4D nucleome project Nature. 2017.09; 549 (7671): 219-226.

Maki Gau, Kei Takasawa: Initial patient choice of a growth hormone device improves child and adolescent adherence to and therapeutic effects of growth hormone replacement therapy. J. Pediatr. Endocrinol. Metab.. 2017.08; 30 (9): 989-993. ( PubMed , DOI )

Masafumi Seki, Shunsuke Kimura, Tomoya Isobe, Kenichi Yoshida, Hiroo Ueno, Yaeko Nakajima-Takagi, Changshan Wang, Lin Lin, Ayana Kon, Hiromichi Suzuki, Yusuke Shiozawa, Keisuke Kataoka, Yoichi Fujii, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Teppei Shimamura, Kyoko Masuda, Hiroshi Kawamoto, Kentaro Ohki, Motohiro Kato, Yuki Arakawa, Katsuyoshi Koh, Ryoji Hanada, Hiroshi Moritake, Masaharu Akiyama, Ryoji Kobayashi, Takao Deguchi, Yoshiko Hashii, Toshihiko Imamura, Atsushi Sato, Nobutaka Kiyokawa, Akira Oka, Yasuhide Hayashi, Masatoshi Takagi, Atsushi Manabe, Akira Ohara, Keizo Horibe, Masashi Sanada, Atsushi Iwama, Hiroyuki Mano, Satoru Miyano, Seishi Ogawa, Junko Takita: Recurrent SPI1 (PU.1) fusions in high-risk pediatric T cell acute lymphoblastic leukemia. Nat Genet. 2017.08; 49 (8): 1274-1281. ( PubMed , DOI )

Akiko Tomioka, Mitsue Maru, Kenichi Kashimada, Hideya Sakakibara: Physical and social characteristics and support needs of adult female childhood cancer survivors who underwent hormone replacement therapy. Int. J. Clin. Oncol.. 2017.08; 22 (4): 786-792. ( 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 )

H Takahashi, J Inoue, K Sakaguchi, M Takagi, S Mizutani, J Inazawa: Autophagy is required for cell survival under L-asparaginase-induced metabolic stress in acute lymphoblastic leukemia cells. Oncogene. 2017.07; 36 (30): 4267-4276. ( 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 )

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 )

Kobayashi Ayumi, Takasawa Reiko, Takasawa Kei, Nishioka Masato, Kaneko Masahide, Ono Hiroshi, Maekawa Takanobu, Morio Tomohiro, Shimohira Masayuki: 多剤過敏症とサイトメガロウイルスおよびBKウイルスの再活性化により重症過好酸球増多症と全身症状を呈した幼児症例(An infant case of severe hypereosinophilia and systemic symptoms with multiple drug hypersensitivity and reactivation of cytomegalovirus and BK virus) Allergology International. 2017.07; 66 (3): 479-481. ( ichushi )

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 )

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 )

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 )

Hiroshi Moritake, Megumi Obara, Yusuke Saito, Ayako Kashimada, Masatoshi Takagi, Megumi Funakoshi-Tago, Tomofusa Fukuyama, Mikio Yoshioka, Akira Inoue, Hiroyuki Komatsu, Hideki Nishitoh, Hiroaki Kataoka, Hiroyuki Nunoi: A mouse model reveals that Mfsd2a is critical for unfolded protein response upon exposure to tunicamycin. Hum Cell. 2017.04; 30 (2): 88-97. ( PubMed , DOI )

Masatoshi Takagi: DNA damage response and hematological malignancy. Int J Hematol. 2017.04; 106 (3): 450-453. ( PubMed , DOI )

M Kato, S Ishimaru, M Seki, K Yoshida, Y Shiraishi, K Chiba, N Kakiuchi, Y Sato, H Ueno, H Tanaka, T Inukai, D Tomizawa, D Hasegawa, T Osumi, Y Arakawa, T Aoki, M Okuya, K Kaizu, K Kato, Y Taneyama, H Goto, T Taki, M Takagi, M Sanada, K Koh, J Takita, S Miyano, S Ogawa, A Ohara, M Tsuchida, A Manabe: Long-term outcome of 6-month maintenance chemotherapy for acute lymphoblastic leukemia in children. Leukemia. 2017.03; 31 (3): 580-584. ( PubMed , DOI )

Miki Murakoshi, Kei Takasawa, Masato Nishioka, Masahiro Asakawa, Kenichi Kashimada, Takanobu Yoshimoto, Toshiyuki Yamamoto, Kazuhiro Takekoshi, Yoshihiro Ogawa, Masayuki Shimohira: Abdominal paraganglioma in a young woman with 1p36 deletion syndrome. Am. J. Med. Genet. A. 2017.02; 173 (2): 495-500. ( PubMed , DOI )

Jinhua Piao, Shiori Takai, Takahiro Kamiya, Takeshi Inukai, Kanji Sugita, Kazuma Ohyashiki, Domenico Delia, Mitsuko Masutani, Shuki Mizutani, Masatoshi Takagi: Poly (ADP-ribose) polymerase inhibitors selectively induce cytotoxicity in TCF3-HLF-positive leukemic cells. Cancer Lett. 2017.02; 386 131-140. ( PubMed , DOI )

Maki Igarashi, Kei Takasawa, Akiko Hakoda, Junko Kanno, Shuji Takada, Mami Miyado, Takashi Baba, Ken-Ichirou Morohashi, Toshihiro Tajima, Kenichiro Hata, Kazuhiko Nakabayashi, Yoichi Matsubara, Ryohei Sekido, Tsutomu Ogata, Kenichi Kashimada, Maki Fukami: Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues. Hum. Mutat.. 2017.01; 38 (1): 39-42. ( 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 )

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 )

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 )

Minoru Asada, Shuki Mizutani, Masatoshi Takagi, Hidenori Suzuki: Antipsychotics promote neural differentiation of human iPS cell-derived neural stem cells. Biochem Biophys Res Commun. 2016.11; 480 (4): 615-621. ( 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 )

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 )

Akaike S, Kamoi K, Tezsuka M, Tomizawa D, Yoshimura R, Takagi M, Ohno-Matsui K: Ocular manifestation in myeloid/NK cell precursor acute leukemia: a case report. Diagnosed by flow cytometry and PCR from aqueous humor. Medicine (Baltimore). 2016.09; 95 (38): e4967. ( PubMed , DOI )

Masayuki Nagasawa, Noriko Mitsuiki, Akifumi Endo, Yuki Aoki, Toshiaki Ono, Takeshi Isoda, Masatoshi Takagi, Michiko Kajiwara, Norio Shimizu, Tomohiro Morio: Sequential virus monitoring of pediatric patients with hematopoietic stem cell transplantation by multiplex PCR method. Transplantation Open. 2016.08; 1 (1): 17-24. ( DOI )

Hirohito Shima, Toshiaki Tanaka, Tsutomu Kamimaki, Sumito Dateki, Koji Muroya, Reiko Horikawa, Junko Kanno, Masanori Adachi, Yasuhiro Naiki, Hiroyuki Tanaka, Hiroyo Mabe, Hideaki Yagasaki, Shigeo Kure, Yoichi Matsubara, Toshihiro Tajima, Kenichi Kashimada, Tomohiro Ishii, Yumi Asakura, Ikuma Fujiwara, Shun Soneda, Keisuke Nagasaki, Takashi Hamajima, Susumu Kanzaki, Tomoko Jinno, Tsutomu Ogata, Maki Fukami, : Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis. J. Hum. Genet.. 2016.07; 61 (7): 585-591. ( PubMed , DOI )

Kei Takasawa, Yuichi Miyakawa, Atsushi Masamune, Kenichi Kashimada, Masayuki Shimohira: Fibrocalculous pancreatic diabetes in a Japanese girl with severe motor and intellectual disabilities. Acta Diabetol. 2016.06; 53 (3): 507-510. ( PubMed , DOI )

Nagasawa M, Ono T, Aoki Y, Isoda T, Takagi M, Imai K, Kajiwara M, Morio T.: A pediatric case of very late onset non-infectious pulmonary complication (LONIPC) after allogeneic hematopoietic stem cell transplantation. J Clin Exp Transplant. 2016.06; 1 (1): 104.

Chika Kobayashi, Masayuki Nagasawa, Noriko　Mitsuiki, Akifumi Endo, Yuki Aoki, Toshiaki　Ono, Kohsuke Imai, Masatoshi Takagi, Michiko Kajiwara, Tomohiro Morio.: Recombinant Human SolubleThrombomodulin is Effective for Severe Childhood EBV-HLH. J Hematol Thromb. 2016.05; 2 (1): 1-4.

Hiroshi Moritake, Masatoshi Takagi, Mariko Kinoshita, Osamu Ohara, Shojiro Yamamoto, Sayaka Moriguchi, Hiroyuki Nunoi: Autoimmunity Including Intestinal Behçet Disease Bearing the KRAS Mutation in Lymphocytes: A Case Report. Pediatrics. 2016.03; 137 (3): e20152891. ( 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 )

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 )

Mami Miyado, Masafumi Inui, Maki Igarashi, Yuko Katoh-Fukui, Kei Takasawa, Akiko Hakoda, Junko Kanno, Kenichi Kashimada, Kenji Miyado, Moe Tamano, Tsutomu Ogata, Shuji Takada, Maki Fukami: The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice. Biol Sex Differ. 2016; 7 56. ( PubMed , DOI )

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 )

Mai Nanya, Masaki Sato, Kousuke Tanimoto, Minoru Tozuka, Shuki Mizutani, Masatoshi Takagi: Dysregulation of the DNA Damage Response and KMT2A Rearrangement in Fetal Liver Hematopoietic Cells. PLoS ONE. 2015.12; 10 (12): e0144540. ( PubMed , DOI )

Yuko Atsumi, Yusuke Minakawa, Masaya Ono, Sachiko Dobashi, Keitaro Shinohe, Akira Shinohara, Shunichi Takeda, Masatoshi Takagi, Nobuhiko Takamatsu, Hitoshi Nakagama, Hirobumi Teraoka, Ken-Ichi Yoshioka: ATM and SIRT6/SNF2H Mediate Transient H2AX Stabilization When DSBs Form by Blocking HUWE1 to Allow Efficient γH2AX Foci Formation. Cell Rep. 2015.12; 13 (12): 2728-2740. ( 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 )

Benner C, Isoda T, Murre C: New roles for DNA cytosine modification, eRNA, anchors, and superanchors in developing B cell progenitors. Proceedings of the National Academy of Sciences of the United States of America. 2015.10; 112 (41): 12776-81. ( PubMed , DOI )

Rieko Takatani, Masanori Minagawa, Angelo Molinaro, Monica Reyes, Kaori Kinoshita, Tomozumi Takatani, Itsuro Kazukawa, Misako Nagatsuma, Kenichi Kashimada, Kenichi Sato, Kazuyuki Matsushita, Fumio Nomura, Naoki Shimojo, Harald Jüppner: Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B). Bone. 2015.10; 79 15-20. ( PubMed , DOI )

Mitsutaka Shiota, Xi Yang, Mei Kubokawa, Tatsuya Morishima, Kuniaki Tanaka, Masamitsu Mikami, Kenichi Yoshida, Masako Kikuchi, Kazushi Izawa, Ryuta Nishikomori, Yusuke Okuno, Xian Wang, Hirotoshi Sakaguchi, Hideki Muramatsu, Seiji Kojima, Satoru Miyano, Seishi Ogawa, Masatoshi Takagi, Daisuke Hata, Hirokazu Kanegane: Somatic mosaicism for a NRAS mutation associates with disparate clinical features in RAS-associated leukoproliferative disease: a report of two cases. J. Clin. Immunol.. 2015.07; 35 (5): 454-458. ( PubMed , DOI )

Tojo Nakayama, Yuko Sato, Mitsugu Uematsu, Masatoshi Takagi, Setsuko Hasegawa, Satoko Kumada, Atsuo Kikuchi, Naomi Hino-Fukuyo, Yoji Sasahara, Kazuhiro Haginoya, Shigeo Kure: Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia. Brain Dev.. 2015.03; 37 (3): 362-365. ( 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, Hiroshi Asahara: TALEN-Mediated Gene Disruption on Y Chromosome Reveals Critical Role of EIF2S3Y in Mouse Spermatogenesis. Stem Cells Dev.. 2015.03; 24 (10): 1164-1170. ( PubMed , DOI )

Masatoshi Takagi, Hatsume Uno, Rina Nishi, Masataka Sugimoto, Setsuko Hasegawa, Jinhua Piao, Norimasa Ihara, Sayaka Kanai, Saori Kakei, Yoshifumi Tamura, Takayoshi Suganami, Yasutomi Kamei, Toshiaki Shimizu, Akio Yasuda, Yoshihiro Ogawa, Shuki Mizutani: ATM Regulates Adipocyte Differentiation and Contributes to Glucose Homeostasis. Cell Rep. 2015.02; 10 (6): 957-967. ( PubMed , DOI )

Aoki Yuki, Watanabe Takashi, Saito Yoriko, Kuroki Yoko, Hijikata Atsushi, Takagi Masatoshi, Tomizawa Daisuke, Eguchi Mariko, Eguchi-Ishimae Minenori, Kaneko Akiko, Ono Rintaro, Sato Kaori, Suzuki Nahoko, Fujiki Saera, Koh Katsuyoshi, Ishii Eiichi, Shultz Leonard D, Ohara Osamu, Mizutani Shuki, Ishikawa Fumihiko: Identification of CD34+ and CD34- leukemia-initiating cells in MLL-rearranged human acute lymphoblastic leukemia. Blood. 2015.02; 125 (6): 967-980. ( 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 )

Risa Nomura, Kentaro Miyai, Michiyo Okada, Michiko Kajiwara, Makoto Ono, Tsutomu Ogata, Iichiro Onishi, Mana Sato, Masaki Sekine, Takumi Akashi, Shuki Mizutani, Kenichi Kashimada: A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads. Clin Pediatr Endocrinol. 2015.01; 24 (1): 11-14. ( PubMed , DOI )

Kentaro Miyai, Toshikazu Onishi, Kenichi Kashimada, Yukihiro Hasegawa: Urinary calcium to creatinine ratio: a potential marker of secondary hyperparathyroidism in patients with vitamin D-dependent rickets type 1A. Endocr. J.. 2015; 62 (1): 61-68. ( PubMed , DOI )

Kenichi Kashimada, Tomohiro Ishii, Keisuke Nagasaki, Makoto Ono, Toshihiro Tajima, Ichiro Yokota, Yukihiro Hasegawa: Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children. Endocr. J.. 2015; 62 (3): 277-282. ( PubMed , DOI )

R Kawakita, Y Hosokawa, R Fujimaru, N Tamagawa, T Urakami, K Takasawa, K Moriya, H Mizuno, Y Maruo, M Takuwa, H Nagasaka, Y Nishi, Y Yamamoto, K Aizu, T Yorifuji: Molecular and clinical characterization of glucokinase maturity-onset diabetes of the young (GCK-MODY) in Japanese patients. Diabet. Med.. 2014.11; 31 (11): 1357-1362. ( PubMed , DOI )

Yaeko Motoyoshi, Akifumi Endo, Masatoshi Takagi, Tomohiro Morio, Eisaku Ito, Michio Nagata, Shuki Mizutani: Graft versus host disease-dependent renal dysfunction after hematopoietic stem cell transplantation. CEN Case Report. 2014.11; 3 (2): 202-205.

Ohnishi Michihiro, Sasaki Naoyuki, Kishimoto Takuya, Watanabe Hidetoshi, Takagi Masatoshi, Mizutani Shuki, Kishii Noriyuki, Yasuda Akio: A new microcolumn-type microchip for examining the expression of chimeric fusion genes using a nucleic acid sandwich hybridization technique. J Chromatogr B Analyt Technol Biomed Life Sci. 2014.11; 970 60-67. ( 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 )

Aoki Yuki, Sato Ayako, Mizutani Shuki, Takagi Masatoshi: Hematopoietic myeloid cell differentiation diminishes nucleotide excision repair. Int J Hematol. 2014.09; 100 (3): 260-265. ( 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 )

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 )

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 )

Alexander Quinn, Kenichi Kashimada, Tara-Lynne Davidson, Ee Ting Ng, Kallayanee Chawengsaksophak, Josephine Bowles, Peter Koopman: A site-specific, single-copy transgenesis strategy to identify 5' regulatory sequences of the mouse testis-determining gene Sry. PLoS ONE. 2014.04; 9 (4): e94813. ( PubMed , DOI )

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 )

Tanaka Eriko, Asanuma Katsuhiko, Kim Eunhee, Sasaki Yu, Oliva Trejo Juan Alejandro, Seki Takuto, Nonaka Kanae, Asao Rin, Nagai-Hosoe Yoshiko, Akiba-Takagi Miyuki, Hidaka Teruo, Takagi Masatoshi, Koyanagi Akemi, Mizutani Shuki, Yagita Hideo, Tomino Yasuhiko: Notch2 activation ameliorates nephrosis. Nat Commun. 2014; 5 3296. ( PubMed , DOI )

Nagasawa Masayuki, Ohkawa Teppei, Endo Akifumi, Mitsuiki Noriko, Ono Toshiaki, Aoki Yuki, Isoda Takeshi, Tomizawa Daisuke, Takagi Masatoshi, Kajiwara Michiko, Morio Tomohiro, Mizutani Shuki: 同種幹細胞移植後の初期血液凝固異常は移植関連死亡率の強力な予後因子であり、組換えヒトトロンボモジュリンによる介入は予後を改善する　単一施設での経験(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) International Journal of Hematology. 2013.11; 98 (5): 533-542. ( ichushi )

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 )

Piao Jinhua, Sakurai Naoto, Iwamoto Shotaro, Nishioka Junji, Nakatani Kaname, Komada Yoshihiro, Mizutani Shuki, Takagi Masatoshi: Functional studies of a novel germline p53 splicing mutation identified in a patient with Li-Fraumeni-like syndrome. Mol Carcinog. 2013.10; 52 (10): 770-776. ( PubMed , DOI )

Takagi M, Piao J, Lin L, Kawaguchi H, Imai C, Ogawa A, Watanabe A, Akiyama K, Kobayashi C, Mori M, Ko K, Sugimoto M, Mizutani S: Autoimmunity and persistent RAS-mutated clones long after the spontaneous regression of JMML. Leukemia. 2013.09; 27 (9): 1926-1928. ( 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 )

Takagi Masatoshi, Sato Masaki, Piao Jinhua, Miyamoto Satoshi, Isoda Takeshi, Kitagawa Masanobu, Honda Hiroaki, Mizutani Shuki: ATM-dependent DNA damage-response pathway as a determinant in chronic myelogenous leukemia. DNA Repair (Amst). 2013.07; 12 (7): 500-507. ( 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 )

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 )

Tamaichi Hiroyuki, Sato Masaki, Porter Andrew C G, Shimizu Toshiaki, Mizutani Shuki, Takagi Masatoshi: Ataxia telangiectasia mutated-dependent regulation of topoisomerase II alpha expression and sensitivity to topoisomerase II inhibitor. Cancer Sci. 2013.02; 104 (2): 178-184. ( PubMed , DOI )

Mizutani Shuki, Takagi Masatoshi: XCIND as a genetic disease of X-irradiation hypersensitivity and cancer susceptibility. Int J Hematol. 2013.01; 97 (1): 37-42. ( PubMed , DOI )

Yohei Matsubara, Makoto Ono, Kentaro Miyai, Fumihiko Takizawa, Kei Takasawa, Toshikazu Onishi, Kenichi Kashimada, Shuki Mizutani: Longitudinal analysis of growth and body composition of Japanese 21-OHD patients in childhood. Endocr. J.. 2013; 60 (2): 149-154. ( PubMed )

Isoda T., Takagi M., Morio T., Kawamoto H., Mizutani S.: VISUALIZATION OF CHROMOSOMAL TRANSLOCATION AND EARLY T-CELL DEVELOPMENT FAILURE IN ATM DEFICIENCY JOURNAL OF CLINICAL IMMUNOLOGY. 2012.09; 32 14-15.

Isoda T., Takagi M., Piao J., Nakagama S., Sato M., Masuda K., Ikawa T., Morio T., Kawamoto H., Mizutani S.: IMMUNE DEFECT AND VISUALIZATION OF CHROMOSOME 14 BREAKS AND TRANSLOCATIONS INVOLVING TCR A/D LOCI DURING EARLY T-CELL DEVELOPMENT LACKING ATM HAEMATOLOGICA. 2012.07; 97 41.

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 )

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 )

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 )

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 )

Kei Takasawa, Makoto Ono, Kentrao Miyai, Yohei Matsubara, Fumihiko Takizawa, Toshikazu Onishi, Kenichi Kashimada, Shuki Mizutani: Initial high dose hydrocortisone (HDC) treatment for 21-hydroxylase deficiency (21-OHD) does not affect linear growth during the first three years of life. Endocr. J.. 2012; 59 (11): 1001-1006. ( PubMed )

Isoda Takeshi, Takagi Masatoshi, Piao Jinhua, Nakagama Shun, Sato Masaki, Masuda Kyoko, Ikawa Tomokatsu, Azuma Miyuki, Morio Tomohiro, Kawamoto Hiroshi, Mizutani Shuki: T-Cell Development Failure At beta-Selection Checkpoint and TCR alpha/delta Locus Break Formation Associated with Chromosome 14 Translocation in Ataxia-Telangiectagia Mutated Deficient Mice BLOOD. 2011.11; 118 (21): 88-89.

Kenichi Kashimada, Terje Svingen, Chun-Wei Feng, Emanuele Pelosi, Stefan Bagheri-Fam, Vincent R Harley, David Schlessinger, Josephine Bowles, Peter Koopman: Antagonistic regulation of Cyp26b1 by transcription factors SOX9/SF1 and FOXL2 during gonadal development in mice. FASEB J.. 2011.10; 25 (10): 3561-3569. ( PubMed , DOI )

Takagi Kae, Kawaguchi Yasushi, Kawamoto Manabu, Ota Yuko, Tochimoto Akiko, Gono Takahisa, Katsumata Yasuhiro, Takagi Masatoshi, Hara Masako, Yamanaka Hisashi: Activation of the activin A-ALK-Smad pathway in systemic sclerosis. J Autoimmun. 2011.05; 36 (3-4): 181-188. ( 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 )

Kenichi Kashimada, Emanuele Pelosi, Huijun Chen, David Schlessinger, Dagmar Wilhelm, Peter Koopman: FOXL2 and BMP2 act cooperatively to regulate follistatin gene expression during ovarian development. Endocrinology. 2011.01; 152 (1): 272-280. ( PubMed , DOI )

Kenichi Kashimada, Peter Koopman: Sry: the master switch in mammalian sex determination. Development. 2010.12; 137 (23): 3921-3930. ( PubMed , DOI )

Sato Masaki, Takagi Masatoshi, Mizutani Shuki: Irradiation-induced p53 expression is attenuated in cells with NQO1 C465T polymorphism. J Med Dent Sci. 2010.06; 57 (2): 139-145. ( PubMed )

Kawagishi Hiroyuki, Nakamura Hideaki, Maruyama Mitsuo, Mizutani Shuki, Sugimoto Kazushi, Takagi Masatoshi, Sugimoto Masataka: ARF suppresses tumor angiogenesis through translational control of VEGFA mRNA. Cancer Res. 2010.06; 70 (11): 4749-4758. ( PubMed , DOI )

Fumihiko Takizawa, Kenichi Kashimada, Keisuke Enomoto, Kentaro Miyai, Makoto Ono, Goro Asada, Junichi Shimizu, Shuki Mizutani: Two preterm infants with late onset circulatory collapse induced by levothyroxine sodium. Pediatr Int. 2010.06; 52 (3): e154-e157. ( PubMed , DOI )

Nagasawa Masayuki, Mitsuiki Noriko, Ono Toshiaki, Takagi Masatoshi, Oda Hiromi, Yasuhara Masato, Mizutani Shuki: Pharmacokinetic monitoring is still required for intravenous busulfan in SCT for small children. Int J Hematol. 2010.05; 91 (4): 728-730. ( 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 )

Ichijima Yosuke, Yoshioka Ken-ichi, Yoshioka Yoshiko, Shinohe Keitaro, Fujimori Hiroaki, Unno Junya, Takagi Masatoshi, Goto Hidemasa, Inagaki Masaki, Mizutani Shuki, Teraoka Hirobumi: DNA lesions induced by replication stress trigger mitotic aberration and tetraploidy development. PLoS One. 2010; 5 (1): e8821. ( 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 )

Isoda Takeshi, Ford Anthony, Tomizawa Daisuke, van Delft Frederik W., de Castro David Gonzalez, Mitsuiki Noriko, Score Joannah, Taki Tomohiko, Morio Tomohiro, Takagi Masatoshi, Saji Hiroh, Mizutani Shuki, Greaves Mel: Loss of Non-Inherited Maternal MHC and Materno-Fetal Transmission of p190 Type BCR-ABL Leukemia BLOOD. 2009.11; 114 (22): 407.

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 )

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 )

T Svingen, C M Spiller, K Kashimada, V R Harley, P Koopman: Identification of suitable normalizing genes for quantitative real-time RT-PCR analysis of gene expression in fetal mouse gonads. Sex Dev. 2009; 3 (4): 194-204. ( PubMed , DOI )

Kenichi Kashimada, Tae Omori, Fumihiko Takizawa, Shuki Mizutani: Two cases of transient pseudohypoaldosteronism due to group B streptococcus pyelonephritis. Pediatr. Nephrol.. 2008.09; 23 (9): 1569-1570. ( PubMed , DOI )

Kawagishi Hiroyuki, Wakoh Takeshi, Uno Hatsume, Maruyama Mitsuo, Moriya Ayako, Morikawa Satoru, Okano Hideyuki, Sherr Charles J, Takagi Masatoshi, Sugimoto Masataka: Hzf regulates adipogenesis through translational control of C/EBPalpha. EMBO J. 2008.05; 27 (10): 1481-1490. ( PubMed , DOI )

Yujin Shibayama, Tatsuya Higashi, Kazutake Shimada, Ken-Ichi Kashimada, Toshikazu Onishi, Makoto Ono, Kentaro Miyai, Shuki Mizutani: Liquid chromatography-tandem mass spectrometric method for determination of salivary 17alpha-hydroxyprogesterone: a noninvasive tool for evaluating efficacy of hormone replacement therapy in congenital adrenal hyperplasia. J. Chromatogr. B Analyt. Technol. Biomed. Life Sci.. 2008.05; 867 (1): 49-56. ( PubMed , DOI )

Kenichi Kashimada, Makoto Ono, Toshikazu Onishi, Satimi Koyama, Takio Toyoura, Kazuhide Imai, Sumitaka Saisho, Shuki Mizutani: Clinical course of patients with nonclassical 21-hydroxylase deficiency (21-OHD) diagnosed in infancy and childhood. Endocr. J.. 2008.05; 55 (2): 397-404. ( PubMed )

Ono Makoto, Kashimada Kenichi, Miyai Kentaro, Onishi Toshikazu, Takagi Masatoshi, Honma Seijiro, Mizutani Shuki: In Vitro Enzyme Assay of CYP21A2 Mutation (R483Q) by A Novel Method Using Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry (LC-ESI-MS/MS). Clin Pediatr Endocrinol. 2008; 17 (2): 49-56. ( PubMed , DOI )

Ken-ichi Kashimada, Toshikazu Onishi, Makoto Ono, Kentaro Miyai, Masayasu Ohta, Shuki Mizutani: A boy with "transient" growth hormone deficiency in prepubertal stage despite normal growth hormone secretion in childhood and after puberty. Endocr. J.. 2007.12; 54 (6): 1015-1019. ( PubMed )

Isoda T, Ito S, Kajiwara M, Nagasawa M: Successful high-dose methotrexate chemotherapy in a patient with acute lymphocytic leukemia who developed acute renal failure during the initial treatment. Pediatr Int. 2007.12; 49 (6): 1018-1019. ( 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 )

Schneider Jochen G, Finck Brian N, Ren Jie, Standley Kara N, Takagi Masatoshi, Maclean Kirsteen H, Bernal-Mizrachi Carlos, Muslin Anthony J, Kastan Michael B, Semenkovich Clay F: ATM-dependent suppression of stress signaling reduces vascular disease in metabolic syndrome. Cell Metab. 2006.11; 4 (5): 377-389. ( 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 )

Takagi Masatoshi, Absalon Michael J, McLure Kevin G, Kastan Michael B: Regulation of p53 translation and induction after DNA damage by ribosomal protein L26 and nucleolin. Cell. 2005.10; 123 (1): 49-63. ( PubMed , DOI )

Tsuji Y, Ito S, Isoda T, Kajiwara M, Nagasawa M, Morio T, Mizutani S: Successful nonmyeloablative cord blood transplantation for an infant with malignant infantile osteopetrosis JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY. 2005.09; 27 (9): 495-498.

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 )

Kae Takagi, Masatoshi Takagi, Siva Kanangat, Kenneth J Warrington, Hidenobu Shigemitsu, Arnold E Postlethwaite: Modulation of TNF-alpha gene expression by IFN-gamma and pamidronate in murine macrophages: regulation by STAT1-dependent pathways. J. Immunol.. 2005.02; 174 (4): 1801-1810. ( PubMed )

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 )

Nagasawa M, Zhu Y, Isoda T, Tomizawa D, Itoh S, Kajiwara M, Morio T, Nonoyama S, Shimizu N, Mizutani S: Analysis of serum soluble CD40 ligand (sCD40L) in the patients undergoing allogeneic stem cell transplantation: platelet is a major source of serum sCD40L EUROPEAN JOURNAL OF HAEMATOLOGY. 2005.01; 74 (1): 54-60.

McLure Kevin G, Takagi Masatoshi, Kastan Michael B: NAD+ modulates p53 DNA binding specificity and function. Mol Cell Biol. 2004.11; 24 (22): 9958-9967. ( PubMed , DOI )

N Shihara, Y Horikawa, T Onishi, M Ono, K Kashimada, J Takeda: Identification of a new case of hepatocyte nuclear factor-1beta mutation with highly varied phenotypes. Diabetologia. 2004.06; 47 (6): 1128-1129. ( PubMed , DOI )

Takagi Masatoshi, Tsuchida Rika, Oguchi Kaoru, Shigeta Teruko, Nakada Shinichiro, Shimizu Kimiko, Ohki Misao, Delia Domenico, Chessa Luciana, Taya Yoichi, Nakanishi Makoto, Tsunematsu Yukiko, Bessho Fumio, Isoyama Keiichi, Hayashi Yoshiki, Kudo Kazuko, Okamura Jun, Mizutani Shuki: Identification and characterization of polymorphic variations of the ataxia telangiectasia mutated (ATM) gene in childhood Hodgkin disease. Blood. 2004.01; 103 (1): 283-290. ( PubMed , DOI )

Eiji Nakashima, Akihiko Mabuchi, Kenichi Kashimada, Toshikazu Onishi, Junwei Zhang, Hirofumi Ohashi, Gen Nishimura, Shiro Ikegawa: RMRP mutations in Japanese patients with cartilage-hair hypoplasia. Am. J. Med. Genet. A. 2003.12; 123A (3): 253-256. ( PubMed , DOI )

Oguchi Kaoru, Takagi Masatoshi, Tsuchida Rika, Taya Yoichi, Ito Etsuro, Isoyama Keiichi, Ishii Eiichi, Zannini Laura, Delia Domenico, Mizutani Shuki: Missense mutation and defective function of ATM in a childhood acute leukemia patient with MLL gene rearrangement. Blood. 2003.05; 101 (9): 3622-3627. ( PubMed , DOI )

Tsuchida Rika, Miyauchi Jun, Shen Lisong, Takagi Masatoshi, Tsunematsu Yukiko, Saeki Morihiro, Honna Toshiro, Yamada Seiko, Teraoka Hirobumi, Kato Jun-Ya, Mizutani Shuki: Expression of cyclin-dependent kinase inhibitor p27/Kip1 and AP-1 coactivator p38/Jab1 correlates with differentiation of embryonal rhabdomyosarcoma. Jpn J Cancer Res. 2002.09; 93 (9): 1000-1006. ( PubMed )

K Kashimada, T Yamashita, K Tsuji, A Nifuji, S Mizutani, Y Nabeshima, M Noda: Defects in growth and bone metabolism in klotho mutant mice are resistant to GH treatment. J. Endocrinol.. 2002.09; 174 (3): 403-410. ( PubMed )

Tsuchida Rika, Yamada Takayuki, Takagi Masatoshi, Shimada Akira, Ishioka Chikashi, Katsuki Yoko, Igarashi Takashi, Chessa Luciana, Delia Domenico, Teraoka Hirobumi, Mizutani Shuki: Detection of ATM gene mutation in human glioma cell line M059J by a rapid frameshift/stop codon assay in yeast. Radiat Res. 2002.08; 158 (2): 195-201. ( PubMed )

Toshikazu Onishi, Hajime Takei, Akira Kambegawa, Sumitaka Saisho, Kenichi Kashimada, Satomi Koyama, Shuki Mizutani, Pemmaraju N Rao: A highly specific heterologous enzyme immunoassay for 5 alpha-androstane-3 alpha, 17 beta-diol 17-glucuronide (androstanediol-17G) and developmental patterns of urinary androstanediol-17G excretions. Steroids. 2002.03; 67 (3-4): 175-183. ( PubMed )

Noda M, Tsuji K, Ishijima M, Usui M, Takamoto M, Kashimada K, Nitou A: [Bone remodeling] Nippon Rinsho. 2002.03; 60 Suppl 3 34-39. ( PubMed )

T Yamashita, I Sekiya, N Kawaguchi, K Kashimada, A Nifuji, Y I Nabeshima, M Noda: Klotho-deficient mice are resistant to bone loss induced by unloading due to sciatic neurectomy. J. Endocrinol.. 2001.02; 168 (2): 347-351. ( PubMed )

Sugimoto K, Tamayose K, Takagi M, Yamada K, Sasaki M, Mizutani S, Oshimi K: Activation of an ataxia telangiectasia mutation-dependent intra-S-phase checkpoint by anti-tumour drugs in HL-60 and human lymphoblastoid cells. Br J Haematol. 2000.09; 110 (4): 819-825. ( PubMed )

Shigeta T, Takagi M, Delia D, Chessa L, Iwata S, Kanke Y, Asada M, Eguchi M, Mizutani S: Defective control of apoptosis and mitotic spindle checkpoint in heterozygous carriers of ATM mutations. Cancer Res. 1999.06; 59 (11): 2602-2607. ( PubMed )

Iwata S, Sato Y, Asada M, Takagi M, Tsujimoto A, Inaba T, Yamada T, Sakamoto S, Yata J, Shimogori T, Igarashi K, Mizutani S: Anti-tumor activity of antizyme which targets the ornithine decarboxylase (ODC) required for cell growth and transformation. Oncogene. 1999.01; 18 (1): 165-172. ( PubMed , DOI )

Takagi M, Shigeta T, Asada M, Iwata S, Nakazawa S, Kanke Y, Ishimoto K, Mizutani S: DNA damage-associated cell cycle and cell death control is differentially modulated by caffeine in clones with p53 mutations. Leukemia. 1999.01; 13 (1): 70-77. ( PubMed )

Shigeta T, Takagi M, Delia D, Chessa L, Iwata S, Kanke Y, Asada M, Eguchi M, Mizutani S.: Defective control of apoptosis, radiosensitivity, and spindle checkpoint in ataxia telangiectasia. Cancer Res. 1998.11; 58 (21): 4923-4929. ( PubMed )

Takagi M, Takahiashi K, Maruyama T, Kaneko K, Obinata K, Tadokoro R, Kastumata K, Miura Y, Fujita H, Tokita A, Ishimoto K, Yabuta K: Acute lymphoblastic leukemia accompanied by severe hypercalcemia: successful treatment including aminohydroxypropylidene bisphosphonate (pamidronate disodium) Pediatr Hematol Oncol. 1998.05; 15 (3): 283-286. ( PubMed )

Kaneko K, Takahashi K, Unno A, Takagi M, Maruyama T, Obinata K, Tsuchihashi N, Kawashiro N, Sakai H: Lingual cyst in infancy: importance of palpation for diagnosis. Acta Paediatr Jpn. 1997.08; 39 (4): 475-477. ( PubMed )

Goi K, Takagi M, Iwata S, Delia D, Asada M, Donghi R, Tsunematsu Y, Nakazawa S, Yamamoto H, Yokota J, Tamura K, Saeki Y, Utsunomiya J, Takahashi T, Ueda R, Ishioka C, Eguchi M, Kamata N, Mizutani S: DNA damage-associated dysregulation of the cell cycle and apoptosis control in cells with germ-line p53 mutation. Cancer Res. 1997.05; 57 (10): 1895-1902. ( PubMed )

Takagi M, Unno A, Maruyama T, Kaneko K, Obinata K: Human herpesvirus-6 (HHV-6)-associated hemophagocytic syndrome. Pediatr Hematol Oncol. 1996.09; 13 (5): 451-456. ( PubMed )

Kaneko K, Unno A, Takagi M, Maruyama T, Obinata K: Kawasaki disease in dizygotic twins. Eur J Pediatr. 1995.10; 154 (10): 868. ( PubMed )

Kanegane H, Hoshino A, Takagi M: Primary immunodeficiencies and hematological malignancies Rinsho Ketsueki (The Japanese journal of clinical hematology). 2018.12; 59 (11): 2459-2467. ( DOI )

Konishi K, Hashimoto A, Mashita M, Sera Y, Kashimada K: The Revised Criteria for Newborn Mass Screening of Congenital Adrenal Hyperplasia in Tokyo 2018.07; 501 38-40.

Masatoshi Takagi, Kevin Urayama: Inherited genetic variants associated with childhood lymphoblastic leukemia risk. The Japanese Journal of Clinical Hematology. 2016.07; 57 (7): 891-899. ( DOI , ichushi )

Diseases Caused by Dysregulation of DNA Damage Response (Including Ataxia Telangiectasia) Diagnosis and Treatment Based on Pathophysiology of Pediatric Disease 5th Edition, 2015 Separate volume 2. 2015.11; 47 691-696.

Masatoshi Takagi: Genetics of hereditary hematological malignancies. 2015.10; 56 (10): 1969-1977. ( PubMed , DOI , ichushi )

Secondary immune thrombocytopenia associated with primary immunodeficiency Rinshoketsueki. 2013.04; 54 (4): 357-364. ( PubMed )