論文・総説 - 鹿島田　健一

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  1. Yuriko Sugiura, Takahiro Ando, Hirokazu Urushiyama, Akihisa Mitani, Goh Tanaka, Kenichi Kashimada, Tomohiro Morio, Hidenori Kage. GATA2 Deficiency With Early-Onset and Progressive Interstitial Lung Disease. Respirol Case Rep. 2025.04; 13 (4): e70165. ( PubMed, DOI )

  2. 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 )

  3. 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 )

  4. 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(タイトル和訳中) Clinical Pediatric Endocrinology. 2024.07; 33 (3): 187-194. ( 医中誌 )

  5. 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 )

  6. Manabu Sugie, Nobutoshi Nawa, Yusuke Noguchi, Atsuko Taki, Ayako Kashimada, Izumi Honda, Akira Koyama, Kaoru Okazaki, Masatoshi Kondo, Hiroyuki Miyahara, Kazuyuki Ito, Takeru Yamauchi, Tsutomu Kondo, Fumiko Honda-Ozaki, Satoshi Kusuda, Chikako Morioka, Takeo Fujiwara, Tomohiro Morio, Kenichi Kashimada. Stage III Chorioamnionitis is Associated with Reduced Risk of Severe Retinopathy of Prematurity. J Pediatr. 2024.05; 272 114085. ( PubMed, DOI )

  7. 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 )

  8. 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 )

  9. 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 )

  10. 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 )

  11. Analia Yogi, Ryosei Iemura, Hisae Nakatani, Kei Takasawa, Maki Gau, Takeru Yamauchi, Masayuki Yoshida, Keiji Moriyama, Taku Ishii, Susumu Hosokawa, Mamiko Yamada, Hisato Suzuki, Kenjiro Kosaki, Kenichi Kashimada, Tomohiro Morio. BMP2 is a potential causative gene for isolated dextrocardia situs solitus. Eur J Med Genet. 2023.09; 66 (9): 104820. ( PubMed, DOI )

  12. 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 )

  13. 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 )

  14. 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 )

  15. 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 )

  16. 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 )

  17. 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 )

  18. 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 )

  19. Arisa Nakamura, Eriko Adachi, Yohei Matsubara, Taku Ishii, Susumu Hosokawa, Kenichi Kashimada, Kei Takasawa. Monitoring hypoparathyroidism in long QT syndrome detected by electrocardiogram screening. Pediatr Int. 2023; 65 (1): e15481. ( PubMed, DOI )

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

  21. 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 )

  22. 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 )

  23. 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 )

  24. 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 )

  25. 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 )

  26. 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 )

  27. 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 )

  28. 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 )

  29. 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 )

  30. 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 )

  31. 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 )

  32. 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 )

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

  34. 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 )

  35. 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 )

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

  37. 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 )

  38. 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 )

  39. 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 )

  40. 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 )

  41. 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 )

  42. 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 )

  43. 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 )

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

  45. 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 )

  46. 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 )

  47. 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 )

  48. 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 )

  49. 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 )

  50. 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 )

  51. 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 )

  52. 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 )

  53. 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 )

  54. 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 )

  55. 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 )

  56. 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 )

  57. 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 )

  58. 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 )

  59. 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 )

  60. 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 )

  61. 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 )

  62. 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 )

  63. 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 )

  64. 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 )

  65. 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 )

  66. 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 )

  67. 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 )

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

  69. 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 )

  70. 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 )

  71. 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 )

  72. 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 )

  73. 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 )

  74. 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 )

  75. 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 )

  76. 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 )

  77. 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 )

  78. 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 )

  79. 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 )

  80. 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 )

  81. 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 )

  82. 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 )

  83. 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 )

  84. 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 )

  85. 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 )

  86. 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 )

  87. 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 )

  88. 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 )

  89. 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 )

  90. 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 )

  91. 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 )

  92. 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 )

  93. 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 )

  94. 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 )

  95. 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 )

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

  97. 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 )

  98. 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 )

  99. 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 )

  100. 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 )

  101. 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 )

  102. 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 )

  103. 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 )

  104. 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 )

  105. 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 )

  106. 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 )

  107. 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 )

  108. 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 )

  109. 三善　陽子, 橘　真紀, 長井　直子, 赤尾　正, 安達　昌功, 伊藤　純子, 鹿島田　健一, 菅野　潤子, 佐藤　武志, 長井　静世, 堀　友博　堀川　玲子, 室谷　浩二, 森川　俊太郎, 岡田　賢. 小児内分泌科医による小児・思春期若年成人世代がん患者の栄養管理の現状 日本小児科学会雑誌. 2025.04; 129 (4): 551-560.

  110. 折本竜太,鹿島田健一. 【特集　ここまで来た！新生児マススクリーニングと対象疾患の治療】以前からの対象疾患-再検査、精密検査、そして治療　先天性副腎過形成症 小児内科. 2024.12; 56 (12): 1797-1802.

  111. 鹿島田健一. つながる内分泌学-古典的な内分泌学から他分野への新たな展開- 小児科診療. 2024.10; 87 (10): 3.

  112. 鹿島田健一. 特集　思春期にある人々を取り巻く現状と課題【知っておきたい知識】思春期の身体的成熟と慢性疾患;内分泌科医の視点から 小児看護. 2024.08; 47 (8): 929-934.

  113. 鹿島田健一. 子どもの身長 月刊　母子保健. 2024.04; (780): 8-9.

  114. 鹿島田健一. 先天性副腎過形成の新生児マススクリーニング実施成績 東京都予防医学協会2024版. 2024.04; 53 149-152.

  115. 酢谷明人,鹿島田健一. 【これでマスター! 最新 産婦人科ホルモン療法】(第2章)B 女性医学　性分化異常 参加と婦人科　増刊号. 2024.03; 91 190-196.

  116. 佐藤薫、鹿島田健一. 【小児内分泌を楽しく学ぼう】ガイドライン,診断・治療の手引きをどう利用するか?　性分化疾患のガイドラインに基づく対応と考え方 小児内科. 2024.02; 56 (2): 209-214. ( 医中誌 )

  117. 鹿島田健一、桐野玄. 体細胞分化転換機構から解明する性の多様性と性分化疾患の病態 細胞. 2024.01; 56 (1): 66-69. ( 医中誌 )

  118. 鹿島田健一. 【これならわかる性分化疾患】基礎知識　性分化疾患とは 小児外科. 2023.12; 55 (12): 1264-1269. ( 医中誌 )

  119. 鹿島田健一. 【成長曲線を書こう】成長曲線　改めて考える,い,ろ,は　成長の"しくみ" 小児科診療. 2023.11; 86 (11): 1303-1309. ( 医中誌 )

  120. 鹿島田健一. 特集　成長曲線を書こう　Ⅰ.成長曲線 改めて考える,い,ろ,は　成長の”しくみ” 小児科診療. 2023.11; 86 (11): 21-27. ( DOI 医中誌 )

  121. 松田希,鹿島田健一. 【エキスパートが教える　小児の薬物治療】疾患別　H.内分泌・代謝疾患　思春期早発症 小児内科. 2023.11; 55 723-726. ( 医中誌 )

  122. 【目的・基準値・進め方がわかる　新生児の検査A to Z】(第3章)押さえておくべき新生児の検査　その他押さえておくべき検査　新生児マススクリーニング検査 with NEO2023秋季増刊. 2023.09; 268-273. ( 医中誌 )

  123. 鹿島田健一. 【目的・基準値・進め方がわかる　新生児の検査A to Z】(第3章)押さえておくべき新生児の検査　内分泌代謝系の検査　アンモニア with NEO2023秋季増刊. 2023.09; 224-228. ( 医中誌 )

  124. 渡辺和弘, 鹿島田健一 . 液体クロマトグラフィー質量分析法を用いた２１水酸化酵素欠損症スクリーニングアルゴリズムの作成 日本マス・スクリーニング学会誌. 2023.06; 33 (1): 9-18.

  125. 鹿島田健一. 【時間の流れと産婦人科生物学-早すぎること,遅すぎること,長すぎること,短かすぎること-】時間の流れと生殖内分泌学　思春期早発症 産科と婦人科. 2023.05; 90 (5): 486-493.

  126. 鹿島田健一. 治療法の再整理とアップデートのために　専門家による私の治療　家族性高コレステロール血症(小児) 日本医事新報. 2023.05; 5170 50-51. ( 医中誌 )

  127. 田中里奈, 清水正樹, 真保麻実, 山崎晋, 高澤啓, 鹿島田健一, 森尾友宏, 森雅亮. 繰り返す口内炎を呈しBehcet病と鑑別を要した歯科金属アレルギーの1例 小児リウマチ. 2022.12; 31 (1): 43-47.

  128. 田中 里奈, 清水 正樹, 真保 麻実, 山崎 晋, 高澤 啓, 鹿島田 健一, 森尾 友宏, 森 雅亮 . 橋本病を合併した混合性結合組織病の1例　hypothyroid myopathyの鑑別の重要性 小児リウマチ. 2022.12; 13 (1): 43-47.

  129. 橋本病を合併した混合性結合組織病の1例　hypothyroid myopathyの鑑別の重要性 小児リウマチ. 2022.12; 13 (1): 43-47. ( 医中誌 )

  130. 田中 里奈, 清水 正樹, 真保 麻実, 山崎 晋, 高澤 啓, 鹿島田 健一, 森尾 友宏, 森 雅亮. 橋本病を合併した混合性結合組織病の1例　hypothyroid myopathyの鑑別の重要性 小児リウマチ. 2022.12; 13 (1): 43-47.

  131. 鹿島田健一. これからの移行期医療を考える　疾患別移行期医療の取り組み～これからの移行期医療を考えるうえで 小児科診療. 2022.10; 85 (秋増刊): 210-215.

  132. 山野春樹, 鹿島田健一. 【小児科医が知っておくべき性の知識】各論:性分化疾患　性分化疾患の内科的治療 小児内科. 2022.10; 54 (10): 1701-1704.

  133. 鹿島田健一. 21-水酸化酵素欠損症の診断・治療ガイドライン(2021年改訂版)解説 糖尿病・内分泌代謝科. 2022.09; 55 (3): 372-378.

  134. 中川竜一, 鹿島田健一. マウスを用いた経時的エンハンサーRNA解析による卵巣体細胞特異的エンハンサー候補領域および疾患感受性領域の同定 日本生殖内分泌学会雑誌. 2022.09; 27 18-23.

  135. 岩山秀之, 河原幸平, 北川幸子, 松下希美, 加藤翔子, 小田嶋貴之, 齊藤拓也, 鹿島田健一, 高木潤子, 金子健一朗, 奥村彰久. 腹腔鏡手術中に索状性腺および痕跡子宮が発見されターナー症候群と診断された1例 小児科臨床. 2022.06; 75 (3): 449-452.

  136. 鹿島田健一. 先天性副腎過形成の新生児マススクリーニング実施成績 東京都予防医学協会年報 2022年版 . 2022.03; 51 141-145.

  137. 中谷久恵, 鹿島田健一. 【こんなときどうする?他科とのコミュニケーションガイド】(第1章) 新生児科・小児科・新生児外科　性分化疾患(DSD)およびTurner症候群 産科と婦人科. 2022.03; 89 Suppl. 103-108.

  138. 家村綾正, 鹿島田健一. 【周産期のステロイド】臨床編　新生児　先天性副腎過形成に対するステロイド療法 周産期医学. 2022.01; 52 (1): 101-104.

  139. 桐野玄, 鹿島田健一. 【小児疾患診療のための病態生理2　改訂第6版】内分泌疾患　性分化疾患 小児内科. 2021.12; 53 (増刊号): 454-461.

  140. 鹿島田健一. 【内分泌疾患・糖尿病・代謝疾患-診療のエッセンス】(I章)内分泌疾患　主要内分泌疾患　性腺疾患、内分泌腫瘍、受容体異常症　性腺機能低下症 日本医師会雑誌. 2021.10; 150 (特別号(2)): 135-137.

  141. 鹿島田健一. 21-水酸化酵素欠損症の新生児マススクリーニングの今後について 日本マススクリーニング学会誌. 2021.05; 31 (1): 11-19. ( 医中誌 )

  142. 安達恵利子, 鹿島田健一. 【各病態における輸液の考え方：電解質異常】 低Na血症，高Na血症 小児内科. 2021.04; 53 (4): 545-550. ( 医中誌 )

  143. 宇都宮朱里, 栗栖優佳, 中川竜一, 高澤啓, 鹿島田健一. CYP21A2欠失とTNXB部分欠失を認め遺伝カウンセリングを行った21-水酸化酵素欠損症の男児例 日本マス・スクリーニング学会誌. 2021.02; 31 (3): 301-307.

  144. 鹿島田健一. 先天性副腎過形成症の新生児マススクリーニングの現状とその課題 日本小児科学会雑誌. 2021.01; 125 (1): 11-23. ( 医中誌 )

  145. 高澤啓, 鹿島田健一, 酢谷明人, 中川竜一, 我有茉希. DNA損傷修復異常による成長障害の病態解明 成長科学協会研究年報. 2020.10; (43): 117-120. ( 医中誌 )

  146. 中川竜一, 鹿島田健一, 高澤啓. 性腺分化機構の解析による人工配偶子作成および胎内発育障害の病態解明への試み 成長科学協会研究年報. 2020.10; (43): 135-136. ( 医中誌 )

  147. 棚橋祐典, 鈴木滋, 鹿島田健一, 向井徳男, 勝又規行, 石井智弘, 田島敏広, 長谷川奉延. 本邦における21水酸化酵素欠損症の予後調査 日本内分泌学会雑誌. 2020.07; 96 Suppl. 107-110. ( 医中誌 )

  148. 齋藤洋子, 鹿島田健一. 【[必携]専攻医と指導医のための新生児診療到達目標】疾患別到達目標　代謝内分泌疾患　先天性副腎過形成症 周産期医学. 2020.04; 50 (4): 684-687. ( 医中誌 )

  149. 眞柄達也, 高澤啓, 渡邉友博, 渡辺章充, 鹿島田健一, 渡部誠一. 臨床症状に乏しく肝腎機能障害を契機に診断された萎縮性甲状腺炎の小児例 茨城県厚生連病院学会雑誌. 2020.02; 32 63-68. ( 医中誌 )

  150. 野村莉紗, 鹿島田健一. 胎生期卵巣におけるNR5A1/Ad4BP/SF1の転写抑制は Notchシグナルを介した卵巣発生の最適化に必要である 日本生殖内分泌学会雑誌. 2019.08; 24 18-23. ( 医中誌 )

  151. 中谷久恵, 鹿島田健一. 【小児外来:どう診るか、どこまで診るか】新生児、乳児、先天異常　非典型的外性器の診察(性分化疾患) 小児科臨床. 2019.08; 72 (増刊): 1077-1083. ( 医中誌 )

  152. 齋藤洋子, 宮井健太郎, 高澤啓, 鹿島田健一. Carbamazepine内服中に自然寛解したBasedow病の1例 小児科臨床. 2019.07; 72 (7): 845-848. ( 医中誌 )

  153. 鹿島田健一. いま知りたい!!♂と♀で割りきれない　ヒトの性の多様性と連続性　性スペクトラムから考える哺乳類性腺発生の分子機構 実験医学. 2019.06; 37 (9): 1438-1442. ( 医中誌 )

  154. 我有茉希, 鹿島田健一. 【小児の負荷試験2019】 副腎皮質系機能検査　メトピロン(メチラポン)負荷試験 小児内科. 2019.04; 51 (4): 461-464. ( 医中誌 )

  155. 中川竜一, 鹿島田健一. 21ー水酸化酵素欠損症の遺伝子解析 日本マススクリーニング学会誌. 2018.12; 28 (3): 277-283. ( 医中誌 )

  156. 小西恵理,神田祥一郎,赤嶺陽子,伊藤友弥,惠谷ゆり,鹿島田健一,島津智之,島袋林秀,武内俊樹,土畠智幸,奈倉道明,福與なおみ,松島卓哉,村上てるみ,堤裕幸,宮田章子,永田智,森尾友宏,将来の小児科医を考える委員会. 日本小児科学会将来の小児科医を考える委員会報告　学術集会における将来の小児科医を考える委員会の活動に関する報告 日本小児科学会雑誌. 2018.11; 122 (11): 1768-1771.

  157. 橋元由紀子, 山内建, 高澤啓, 前田佳真, 土井庄三郎, 鹿島田健一, 森尾友宏. 肝機能障害を契機にホモ接合性家族性低βリポ蛋白血症の診断に至った1例 日本小児科学会雑誌. 2018.08; 122 (8): 1386. ( 医中誌 )

  158. 小西薫, 橋本敦子, 間下充子, 世良保美, 鹿島田健一. 早産児における先天性副腎過形成スクリーニングの判定基準の検討 予防医学ジャーナル. 2018.07; 501 38-40.

  159. 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 Clinical Pediatric Endocrinology. 2018.01; 27 (1): 31-38. ( 医中誌 )

  160. 橋本敦子, 藤川研人, 小西薫, 間下充子, 世良保美, 鹿島田健一. 先天性副腎過形成新生児マススクリーニングにおける週数別判定基準の検討 日本マススクリーニング学会誌. 2017.12; 27 (3): 57-61.

  161. 山内 建, 鹿島田 健一. 【子どもの生活習慣病-スクリーニングと早期予防】 生活習慣病と関連疾患　病態と治療　治療介入の決断時期　婦人科関連疾患 小児内科. 2017.10; 49 (10): 1523-1528.

  162. 中川 竜一, 鹿島田 健一. 【小児内分泌アドバンス】内分泌領域における最新の知見　性分化機構 小児内科. 2017.02; 42 (2): 168-173.

  163. 鹿島田 健一. 【知って得する小児内分泌代謝領域の話題】 性が分化すること 小児科臨床 . 2017.01; 70 (1): 25-32.

  164. 荒木恭子, 内山健, 今村公俊, 鹿島田健一. 新生児高血糖の管理にインスリン持続静注を行った超早産児の２例 小児臨床. 2017.01; 70 (2): 265-270.

  165. 宮川 雄一, 鹿島田 健一. 先天性副腎過形成(CAH)精査機関での診断のポイント　17-OHP高値をとるCAHの病型診断と遺伝学的検査について 日本マス・スクリーニング学会誌 . 2015.12; 25 (3): 251-259.

  166. 長妻美紗子, 鹿島田健一. Cushing 症候群 小児疾患診療のための病態生理1　改訂5版　小児内科. 2015.11; 47

  167. 高澤 啓, 鹿島田健一. 卵巣発生において卵巣特異的転写因子 FOXL2はWT1による Sf1の発現を抑制する 日本生殖内分泌学会雑誌. 2015; 20 47-51.

  168. 鹿島田健一. 思春期にあるがん患者・サバイバー (CCS) の医学的問題 小児看護. 2015; 38 1373-1378.

  169. 宮川雄一, 鹿島田健一. 先天性副腎過形成(CAH)精査機関での診断のポイント〜17-OHP高値をとるCAHの病型診断と遺伝学的検査について〜 日本マススクリーニング学会雑誌. 2015; 25 (3): 9-17.

  170. 滝島 茂, 鹿島田 健一. 性分化　低身長症(-2.6SD)を呈したKlinefelter症候群(48,XXXY)の1例 ホルモンと臨床. 2014.05; 62 (5): 417-420.

  171. 高澤 啓, 鹿島田 健一. 【小児の内分泌・代謝性疾患診療のUpdate】 3β水酸化ステロイド脱水素酵素異常 小児科臨床. 2012.05; 65 (5): 951-958.

  172. 鹿島田 健一. 【志願者減少から検証する臨床研修制度での小児科研修の問題点と展望】 一般病院における小児科研修 東京小児科医会報. 2006.11; 25 (2): 25-30.

  173. 鹿島田 健一. 【血糖調節from A to Z】　2000-2004 Year Book　最近の論文から学ぶ糖尿病関連事項 小児科診療. 2005.10; 68 (10): 1901-1908.

  174. 野田 政樹, 辻 邦和, 石島 旨章, 臼井 通彦, 高本 真弥, 鹿島田 健一, 二藤 彰. 【骨粗鬆症　最新の成因研究と治療動向】　骨代謝の分子生物学　骨のリモデリング 日本臨床. 2002.03; 60 (3): 34-39.

  175. Masaki Noda, Kunikazu Tsuji, Muneaki Ishijima, Michihiko Usui, Maya Takamoto, Kenichi Kashimada, Akira Nitou. [Bone remodeling]. Nippon Rinsho. 2002.03; 60 Suppl 3 34-39. ( PubMed )

  176. 野田 政樹, 鹿島田 健一, 前田 由紀子, 湯本 健司, 辻 邦和, 二藤 彰. 【期待される移植　再生医療　現状と展望】　再生医療の最前線　骨再生 小児内科. 2002.01; 34 (1): 104-109.

  177. M Noda, K Kashimada, M Takamoto, K Yumoto, Y Maeda, M Usui, M Ishijima. [The meaning of phosphate in bone formation]. Clin Calcium. 2001.10; 11 (10): 1315-1320. ( PubMed, DOI )

  178. 野田 政樹, 鹿島田 健一, 高本 真弥, 湯本 健司, 前田 由紀子, 臼井 通彦, 石島 旨章. 【リンの代謝とその制御】　骨形成におけるリンの意義 Clinical Calcium. 2001.09; 11 (10): 1315-1320.

  179. M Noda, K Nomura, Y Asou, H Nemoto, M Ishijima, M Takamoto, M Usui, K Kashimada. [Bone metabolism and angiogenesis]. Clin Calcium. 2001.04; 11 (4): 404-410. ( PubMed, DOI )

  180. 野田 政樹, 野村 和弘, 麻生 義則, 根本 啓行, 石島 旨章, 高本 真弥, 臼井 通彦, 鹿島田 健一. 【遺伝子とカルシウム　血管と骨を制御する遺伝子とその異常】　骨代謝と血管新生 Clinical Calcium . 2001.03; 11 (4): 404-410.

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