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 )

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 )

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. 2023.02; 17 (1): 51-55. ( 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 )

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 (SGA): Etiology and Management from Infancy to Early Adulthood. Endocr Rev. 2023.01; ( PubMed, DOI )

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; 65 (1): e15481. ( PubMed, DOI )

Maki Gau, Ryota Suga, Atsushi Hijikata, Ayako Kashimada, Masatoshi Takagi, Ryuichi Nakagawa, Kei Takasawa, Tsuyoshi Shirai, Kenichi Kashimada, Tomohiro Morio. A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands. Front Endocrinol (Lausanne). 2023.01; 13 1033074. ( PubMed, DOI )

Jumpei Kuroda, Kenichi Kashimada, Kaoru Okazaki. Neonatal alloimmune thrombocytopenia associated with fetomaternal hemorrhage. Pediatr Int. 2023; 65 (1): e15619. ( 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; 17 1885-1894. ( 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 )

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, Osamu Ohara, Junko Tanaka, Tomohiro Morio, Satoshi Okada. Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-19. J Clin Immunol. 2022.10; 42 (7): 1360-1370. ( 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 )

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 )

Shizuka Kirino, Mitsuyoshi Suzuki, Takuya Ogawa, Kei Takasawa, Eriko Adachi, Maki Gau, Ken Takahashi, Mitsuru Ikeno, Mamiko Yamada, Hisato Suzuki, Kenjiro Kosaki, Keiji Moriyama, Masayuki Yoshida, Tomohiro Morio, Kenichi Kashimada. Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant. Eur J Med Genet. 2022.09; 65 (11): 104623. ( PubMed, DOI )

Ryuichi Nakagawa, Kei Takasawa, Maki Gau, Atsumi Tsuji-Hosokawa, Hideya Kawaji, Yasuhiro Murakawa, Shuji Takada, Masashi Mikami, Satoshi Narumi, Maki Fukami, Rajini Sreenivasan, Tetsuo Maruyama, Elena 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 )

Ryosuke Wakatsuki, Masaki Shimizu, Shimbo Asami, 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. 2022.07; 7 (1): 65-67. ( 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 )

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 )

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 )

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 )

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 )

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

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

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 )

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

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 )

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 )

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 )

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 )

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 )

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 )

Saori Kadowaki, Kunio Hashimoto, Toyoki Nishimura, Kenichi Kashimada, Tomonori Kadowaki, Norio Kawamoto, Kohsuke Imai, Satoshi Okada, Hirokazu Kanegane, Hidenori Ohnishi. Functional analysis of novel A20 variants in patients with atypical inflammatory diseases. Arthritis Res Ther. 2021.02; 23 (1): 52. ( 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 )

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 )

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 )

Yujiro Nakano, Chikara Komiya, Hitomi Shimizu, Hiroyuki Mishima, Kumiko Shiba, Kazutaka Tsujimoto, Kenji Ikeda, Kenichi Kashimada, Sumito Dateki, Koh-Ichiro Yoshiura, Yoshihiro Ogawa, Tetsuya Yamada. A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5. Endocr. J. 2020.11; 67 (11): 1099-1105. ( 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 )

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 )

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 )

Hasegawa S, Kumada S, Tanuma N, Tsuji-Hosokawa A, Kashimada A, Mizuno T, Moriyama K, Sugawara Y, Shirai I, Miyata Y, Nishida H, Mashimo H, Hasegawa T, Hosokawa T, Hisakawa H, Uematsu M, Fujine A, Miyata R, Sakuma H, Kashimada K, Imai K, Morio T, Hayashi M, Mizutani S, Takagi M. Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia. Pediatr Neurol. 2019.11; 100 60-66. ( PubMed, DOI )

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

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 )

Risa Nomura, Kenichi Kashimada, Hitomi Suzuki, Liang Zhao, Atusmi Hosokawa-Tsuji, Hideo Yagita, Masatoshi Takagi, Yoshiakira Kanai, Josephine Bowles, Peter Koopman, Masami Kanai-Azuma, Tomohiro Morio. Nr5a1 suppression during the fetal period optimizes ovarian development by fine-tuning of Notch signaling. J. Cell. Sci.. 2019.04; 132 (8): jcs223768. ( PubMed, DOI )

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

Misako Nagatsuma, Kei Takasawa, Takeru Yamauchi, Ryuichi Nakagawa, Tomoko Mizuno, Eriko Tanaka, Kouhei Yamamoto, Noriko Uemura, Kenichi Kashimada, Tomohiro Morio. A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus. J. Hum. Genet.. 2019.02; 64 (2): 177-181. ( PubMed, DOI )

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

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 )

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 )

Nozomi Matsuda, Atsuko Taki, Atsumi Tsuji, Keisuke Nakajima, Kei Takasawa, Chikako Morioka, Yoshihiro Minosaki, Kikuko Oku, Kenichi Kashimada, Tomohiro Morio. Perinatal factors affecting growth and development at age 3 years in extremely low birth weight infants born small for gestational age. Clin Pediatr Endocrinol. 2018; 27 (1): 31-38. ( PubMed, DOI )

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. 2017.12; ( 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. 2017.12; ( 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.

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 )

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.. 2017.08; ( 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 )

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. 2017.05; 87 (4): 271-276. ( 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 )

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. 2017.01; 11 (5-6): 284-288. ( 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 )

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 )

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. 2016.11; 7 56. ( PubMed, 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 )

Takasawa K, Miyakawa Y, Masamune A, Kashimada K, Shimohira M. Fibrocalculous pancreatic diabetes in a Japanese girl with severe motor and intellectual disabilities. Acta Diabetologica. 2016.06; 53 (3): 507-510. ( 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. 2016.04; 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 )

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 )

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. 2015.06; ( PubMed, DOI )

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

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 )

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 )

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. 2014.05; 4 5043. ( 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 )

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, 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.. 2013.09; 60 (2): 149-154. ( PubMed )

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.. 2012.07; 59 (11): 1001-1006. ( PubMed )

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 )

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 )

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 )

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 )

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 )

Makoto Ono, Kenichi Kashimada, Kentaro Miyai, Toshikazu Onishi, Masatoshi Takagi, Seijiro Honma, Shuki Mizutani. 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 )

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 )

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 )

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 )

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 )

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 )

Shizuka Kirino, Ryuichi Nakagawa, Kei Takasawa, Maki Gau, Atsumi Tsuji-Hosokawa, Liang Zhao, Josephine Bowles, Peter Koopman, Tomohiro Morio, Kenichi Kashimada. Application of Cap analysis of gene expression (CAGE) in genetic analysis of mouse sex differentiation. Ninth International Symposium on the Biology of Vertebrate Sex Determination 2023.04.19 Kailua-Kona, HAWAII

Eriko Adachi, Kenichi Kashimada, Ryuichi Nakagawa, Kei Takasawa, Akito Sutani, Atsumi Tsuji-Hosokawa, Osamu Ohara. Allele frequency of deletions or large conversions in Japanese 21 hydroxylase deficiency patients was 20%. The 12th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society 2022 2022.10.06 Seoul, KOREA (Web)

Atsumi Tsuji-Hosokawa, Kazuhiro Watanabe, Atsuko Hashimoto, Nobuyuki Ishige, Harumi Yajima, Akito Sutani, Hisae Nakatani, Maki Gau, Kei Takasawa, Kenichi Kashimada. The LC-MS/MS pilot study assay for 21-hydroxylase deficiency newborn screening revealed the high relevancy of 21DOF, (4AD + 17αOHP)/F, and 11DOF/17αOHP. The 12th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society 2022 2022.10.06 Seoul, KOREA (Web)

Analia Gisela Yogi, Kenichi Kashimada, Ryosei Iemura, Hisae Nakatani, Kei Takasawa, Maki Gau, Takeru Yamauchi, Masayuki Yoshida, Tomohiro Morio. A case of BMP2 defficiency with short stature. The 12th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society 2022 2022.10.06 Seoul, KOREA (Web)

Shizuka Kirino, Analia Gisela Yogi, Eriko Adachi, Maki Gau, Hisae Nakatani, Toru Kanamori, Tomohiro Udagawa, Kei Takasawa, Kenichi Kashimada, Tomohiro Morio. The first family case of 46,XX DSD due to pathogenic variant of WT1 Zinc Finger domain 4. The 12th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society 2022 2022.10.06 Seoul, KOREA (Web)

Ryuichi Nakagawa, Hideya Kawaji, Yasuhiro Murakawa, Shuji Takada, Satoshi Narumi, Maki Fukami, Josephine Bowles, Andrew Sinclair, Peter Koopman, Kenichi Kashimada. Two ovarian enhancer candidates, identified by time series enhancer RNA analyses, harbored rare SNVs identified in ovarian insufficiency. First Virtual International Symposium on Vertebrate Sex Determination 2021.10.04 Web

Kenichi Kashimada. Endocrine Late Effects of childhood cancer. ISPAE PET School 2019 2019.11.26 Kolkata, India

Kenichi Kashimada. Diagnosis and clinical management of DSD in past and present. Pediatric Academic Societies Meeting 2019.04.28 Baltimore, USA

Yamauchi T, Sugie M, Takasawa K, Imamura M, Kashimada K. Prematurity of 23 or less weeks' gestation is a risk for transient late-onset hyperglycemia in neonates. ESPE 2018 2018.09.28 Greece

Nakatani H, Miyai K, Takasawa K, Kashimada K, Morimorto A, nagasawa M, Oshiba A. A case of central diabetes insipidus developed 4 years after the non-CNS-risk unifocal bone lesion of Langerhans cell histiocytosis. ESPE2018 2018.09.28 Greece

Kashimada K, Nomura R, Suzuki H, Zhao L, Tsuji-Hosokawa A, Kanai Y, Yagita H, Bowles J, Koopman P, kanai-Azuma M, Morio T. Enforced expression of Nr5a1/Ad4bp/Sf1 in mouse fetal ovaries causes premature ovarian insufficiency by dysregulating Notch signaling. 8th International Symposium on the Biology of Vertebrate Sex determination 2018.04.16 Hawaii

Tsuji-Hosokawa A, Kato T, Ogawa Y, Nomura R, Lavery R, Takasawa K, Harley V, Morio T, Takeda S, Kashimada K. SOX9 and FOXL2 Antagonistically Regulate Peptidyl Arginine Deiminase 2 (PADI2) Expression during testicular Development. 8th International Symposium on the Biology of Vertebrate Sex determination 2018.04.16 Kona

Atsumi Tsuji, Kei Takasawa, Risa Nomura, Yuichi Miyakawa, Chikahiko Numakura, Atsushi Hijikata, Tsuyoshi Shirai, Yoshihiro Ogawa, Kashimada, Tomohiro Morio. Molecular mechanisms of insulin resistance in two cases of primary insulin receptor defect-associated diseases. The 9th biennial scientific meeting of the Asia Pacific Paediatric Endocrine Society 2016.11.19 Tokyo, Japan

Tomoda T, Okuno M, Sutani A, Tsuji-Hosokawa A, Imai K, Kashimada K, Urakami T, MorioT. Combined Therapy with pump and long acting insulin for type 1 diabetes mellitus caused by STAT1 mutation. The 9th Beinnial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society/ The 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology 2016.11.17 Tokyo, Japan

Yuichi Miyakwa, Akito Sutani, Atsumi Tsuji, Tomohiro Morio, Kenichi Kashimada. A case of Atypical Pubertal Development Caused by Dopamine Antagonist. The 9th Biennial Scientific Meeting of the Asia Pacific Endocrine Society/ The 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology 2016.11.17 Tokyo, Japan

Risa Nomura, Maki Gau, Takeru Yamauchi, Akito Sutani, Atsumi Tsji-Hosokawa, Yohei Matsubara, Kentaro Miyai, Susumu Hosokawa, Gen Nishimura, Kenichi Kashimada. Myhre syndrome: a progressive connective tissue disorder with short stature. The 9th Biennial Scientific Meeting of the Asia Pacific Endocrine Society/ The 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology 2016.11.17 Tokyo, Japan

Kazuhisa Akiba, Masahiro Goto, Yoshihiko Morikawa, Kenichi Kashimada, Koji Muroya, Masayoshi Adachi, Yukihiro Hasegawa. Hydrocortisone dose between 180 and 360 days may change Ht- SDS during the first 1 year of life with 21 OHD. The 9th Biennial Scientific Meeting of the Asia Pacific Endocrine Society/ The 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology 2016.11.17 Tokyo, Japan

Ryuichi Nakagawa, Akito Sutani, Tsuji Atsumi, Yohei Matsubara, Shigeru Takishima, Kei Takasawa, Kentaro Miyai, Makoto Ono, Toshikaza Oonishi, Kenichi Kashimada, Tomohiro Morio. The level of LH and FSH would be a monitoring marker for adult male 21-OHD patient. The 9th Biennial Scientific Meeting of the Asia Pacific Endocrine Society/ The 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology 2016.11.17 Tokyo, Japan

Masahiro Goto, Kazuhisa Akiba, Kenichi Kashimada, Koji Muroya, Masanori Adachi, Tsuyoshi Isojima, Yukhiro Hasegawa. Infantile body weight gain up to 60 days of age is associated with height at 1 year of age in classical 21-hydroxylase deficiency. The 9th Biennial Scientific Meeting of the Asia Pacific Endocrine Society/ The 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology 2016.11.17 Tokyo, Japan

Maki Igarashi, Kei Takasawa, Akiko Hakoda, Junko Kanno, Shuji Takada, Mami Miyado, Toshihiro Tajima, Ryohei Sekido, Tsutomu Ogata, Kenichi Kashimada, Maki Fukami. Identical NR5A1 Missense Mutations in Two Unrelated 46, XX Individuals with Testicular Tissues. The 9th Biennial Scientific Meeting of the Asia Pacific Endocrine Society/ The 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology 2016.11.17 Tokyo, Japan

Akito Sutani, Takeru Yamauchi, Ryuichi Nakagawa, Nozomi Matsuda, Yuichi Miyakawa, Risa Nomura, Atsumi Tsuji-Hosokawa, Shigeru Takishima, Yohei Matsubara, Kei Takasawa, Misako Nagatsuma, Makoto Ono, Kenichi Kashimada, Tomohiro Morio. Fifty cases of congenital hypothyroidism re-evaluation taken in our hospital. The 9th Biennial Scientific Meeting of the Asia Pacific Endocrine Society/ The 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology 2016.11.17 Tokyo, Japan

Kenichi Kashimada. CAH newborn screening in Japan. ISNS-9th Asia Pacific Regional Meeting 2015.12.18 Penang, Malaysia

Ryuichi Nakagawa, Atsumi Tsuji, Yuki Aoki, Keisuke Nakajima, Akito Sutani, Yuichi Miyakawa, Kei Takazawa, Daisuke Tomizawa, Masatoshi Takagi, Kenichi Kashimada, Tomohiro Morio. Total-Body Irradiation is a major risk factor for young adult onset diabetes mellitus and hyperlipidemia i childhood cancer survivors after hematopoietic stem cell transplantation. ESPE 2015.10.01 Barcelona

Akihito Sutani, Yuichi Miyakawa, Atsumi Tsuji, Yuki Aoki, Kei Takasawa, Masatoshi Takagi, Kosuke Imai, Kenichi Kashimada, Tomohiro Morio. The late effects after the hematopoietic stem cells transplantation (HSCT) for patients with non-neoplastic disease. ESPE 2015.10.01 Barcelona

Kenichi Kashimada, Yohei Matsubara, Tomoko Kato, Takashi Nakasuji, Hiromitsu Tanaka, Zhou Zhi, Shizuko Ichinose, Tomoki Chiba, Yoshiaki Ito, Yumiko Saga, Tomohiro Morio, Shuji Takada, Hiroshi Asahara. TALEN-Mediated Gene Disruption on Y Chromosome Reveals Critical Role of EIF2S3Y in Mouse Spermatogenesis. Germinal Stem Cell Biology, Gordon Research Conference 2015.05.31

Takasawa K, Kashimada K, Pelosi E, Takagi M, Morio T, Asahara H, Schlessinger D, Mizutani S, Koopman P. FOXL2 transcriptionally represses Sf1 expression by antagonizing WT1 during ovarian development in mice.. 7th International Symposium on Vertebrate Sex Determination 2015.04.13 Hawaii

Atsumi Tsuji, Kaoru Konishi, Satomi Hasegawa, Akira Anazawa, Teruo Kitagawa, Shuki Mizutani, Kenichi Kashimada. Newborn screening for congenital adrenal hyperplasia(CAH) in Tokyo, Japan: Lessons learned from 23 years’ experience. the 9th Joint Meeting of Paediatric Endocrinology 2013.09.20 Milan, Italy