Kenjiro Kosaki

コサキケンジロウ | Kenjiro Kosaki

Affiliation and department：
Job title： Professor
Homepage URL (1)： http://cmg.med.keio.ac.jp/

Research field (1)： Medical biochemistry

Research theme for competitive and other funds (9)：

2007 - 2008 先天異常遺伝子診断センターの確立
2003 - 2005 バイオインフォマティクスを用いたダイオキシン受容体標的遺伝子の系統的同定
2002 - 2005 平成14〜16年度厚生労働科学研究効果的医療技術の確立推進臨床研究事業「小児科診療における効果的薬剤使用のための遺伝子多型スクリーニングシステムの構築
2002 - 2003 ヒューマンサイエンス振興財団「治験体制整備支援事業」
2001 - 2002 平成13〜14年度文部科学省科学研究費補助金「先天異常とダイオキシン受容体関連蛋白の多型との相関:性腺機能障害と口蓋裂」

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Papers (315)：

Lizhu Yang, Kaoru Fujinami, Shinji Ueno, Kazuki Kuniyoshi, Takaaki Hayashi, Mineo Kondo, Atsushi Mizota, Nobuhisa Naoi, Kei Shinoda, Shuhei Kameya, et al. Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency. Scientific Reports. 2020. 10. 1
Yu Fujinami-Yokokawa, Kaoru Fujinami, Kazuki Kuniyoshi, Takaaki Hayashi, Shinji Ueno, Atsushi Mizota, Kei Shinoda, Gavin Arno, Nikolas Pontikos, Lizhu Yang, et al. Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association. Scientific Reports. 2020. 10. 1
Yokoi T, Enomoto Y, Uehara T, Kosaki K, Kurosawa K. A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing. Human Genome Variation. 2020. 7. 1. 22-22
Yasuo Sunaga, Kazuhiro Muramatsu, Kenjirou Kosaki, Kenji Sugai, Takahisa Mizuno, Miyuki Kouno, Masahiko Tashiro. Variant in the neuronal vesicular SNARE VAMP2 (synaptobrevin-2): First report in Japan. Brain and Development. 2020. 42. 7. 529-533
Kobayashi Y, Takeda T, Kunitomi H, Ueki A, Misu K, Kowashi A, Takahashi T, Anko M, Watanabe K, Masuda K, et al. Cowden syndrome complicated by schizophrenia: A first clinical report. European Journal of Medical Genetics. 2020. 63. 8. 103959-103959

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MISC (7)：

Naoki Oiso, Akiharu Kubo, Akira Shimizu, Hisato Suzuki, Kenjiro Kosaki, Takaaki Chikugo, Kazuhiko Nakabayashi, Kenichiro Hata, Shigeto Yanagihara, Osamu Ishikawa, et al. Epidermodysplasia verruciformis without progression to squamous cell carcinomas in an elderly man: α-human papillomavirus infection in the evolving verruca. International journal of dermatology. 2020. 59. 9. e334-e336
Baynam G.S, Groft S, van der Westhuizen F.H, Gassman S.D, du Plessis K, Coles E.P, Selebatso E, Selebatso M, Gaobinelwe B, Selebatso T, et al. A call for global action for rare diseases in Africa. Nature Genetics. 2020. 52. 1. 21-26
Kato K, Miya F, Hori I, Ieda D, Ohashi K, Negishi Y, Hattori A, Okamoto N, Kato M, Tsunoda T, et al. Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate (Journal of Human Genetics, (2017), 62, 9, (861-863), 10.1038/jhg.2017.53). Journal of Human Genetics. 2019. 64. 7. 701-702
Shigemizu D, Miya F, Akiyama S, Okuda S, Boroevich K, Fujimoto A, Nakagawa H, Ozaki K, Niida S, Kanemura Y, et al. Publisher Correction: IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis (Scientific Reports (2018) DOI: 10.1038/s41598-018-23978-z). Scientific Reports. 2018. 8. 1. 10367-10367
Hisato Suzuki, Masaharu Kataoka, Takahiro Hiraide, Yuki Aimi, Yoshitake Yamada, Yoshinori Katsumata, Tomohiro Chiba, Kohsuke Kanekura, Sarasa Isobe, Yasunori Sato, et al. Genomic Comparison With Supercentenarians Identifies RNF213 as a Risk Gene for Pulmonary Arterial Hypertension. Circulation. Genomic and precision medicine. 2018. 11. 12. e002317

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Patents (1)：

変異型DNAを検出するためのキット

Books (1)：

遺伝子・染色体の異常と形態異常
2003

Lectures and oral presentations (58)：

DHPLCを用いた稀少疾患に対する系統的遺伝子解析システムの開発: 多発奇形症候群を例として
(日本人類遺伝学会第50回大会 2005)
日本人CHARGE連合患者の分子遺伝学的解析
(第108回日本小児科学会学術集会 2005)
DHPLCを用いた系統的遺伝子解析システム
(第2回全国遺伝子医療部門連絡会議 2004)
検査の外注における匿名化システム
(第2回全国遺伝子医療部門連絡会議 2004)
DHPLC方による多発性奇形症候群の遺伝子診断システムの確立
(第524回日本小児科学会東京都地方会講話会 2004)

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Works (1)：

学務委員会委員
2003 - 2005

Education (1)：

1989 - Keio University Faculty of Medicine

Professional career (1)：

Doctor of Medical Science (Keio University)

Committee career (34)：

2006/11/01 - 現在 Alliance for Translation of Genome science into Clinical medicine Deputy director
2006/11/01 - 現在 Alliance for Translation of Genome science into Clinical medicine Deputy director
2005 - 現在 THE JAPANESE TERATOLOGY SOCIETY Editor
2005 - 現在日本先天異常学会編集委員
2004 - 現在 THE JAPANESE TERATOLOGY SOCIETY Board of Councillors

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Awards (3)：

2018/08 - 北島賞
2009/03/14 - 川野小児医学奨学財団小児医学川野賞小児消化器病学領域における遺伝子診断の臨床応用の促進
2000/11 - 慶應義塾大学医学部三四会三四会奨励賞ラッセルシルバー症候群に関する分子遺伝学的研究

Association Membership(s) (4)：

日本小児科学会 , 日本先天異常学会 , The Japan Society of Pediatric Genetics , The Japan Society of Humana Genetics

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