Saitsu Hirotomo

サイツヒロトモ | Saitsu Hirotomo

Affiliation and department：
Homepage URL (1)： https://www.hama-med.ac.jp/education/fac-med/dept/biochemistry/index.html

Research field (3)： Fetal medicine/Pediatrics , Pathobiochemistry , Medical biochemistry

Research keywords (7)：ゲノム編集 , ゲノム解析 , 先天異常学 , 分子遺伝学 , development , birth defect , human genetics

Research theme for competitive and other funds (20)：

2023 - 2027 血中遊離核酸検査の質保証と技能試験の開発;精確な結果に基づくゲノム医療をめざして
2022 - 2024 ミスセンス変異体の安定性に注目したハイスループット機能評価系の開発
2021 - 2024 母体低栄養が新発見のGABA作動性CRH放出経路を介して仔の脳発達に与える影響
2020 - 2023 Development of a predictive method for cerebral onset of adrenoleukodystrophy by multiomics analysis
2020 - 2023 Elucidation of genetic factors and molecular pathology of neurodevelopmental disorders by a multifaceted approach

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Papers (525)：

Kazuyuki Komatsu, Mitsuhiro Kato, Kazuo Kubota, Shinobu Fukumura, Keitaro Yamada, Ikumi Hori, Kenji Shimizu, Sachiko Miyamoto, Kaori Yamoto, Takuya Hiraide, et al. Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing. Scientific reports. 2024. 14. 1. 24746-24746
Shin-Ichi Tomizawa, Rachel Fellows, Michio Ono, Kazushige Kuroha, Ivana Dočkal, Yuki Kobayashi, Keisuke Minamizawa, Koji Natsume, Kuniko Nakajima, Ikue Hoshi, et al. A non-canonical bivalent gene Wfdc15a controls spermatogenic protease and immune homeostasis. Development (Cambridge, England). 2024
Kazuo Kubota, Takuya Hiraide, Mina Nakama, Miho Adachi, Mitsuko Nakashima, Hirotomo Saitsu, Hidenori Ohnishi. GRIN2A-related disorder causes profound developmental delay and a disorder affecting movement. Brain and Development Case Reports. 2024. 2. 3. 100034-100034
Shogo Furukawa, Mitsuhiro Kato, Akihiko Ishiyama, Tomohiro Kumada, Takeshi Yoshida, Eri Takeshita, Pin Fee Chong, Hideo Yamanouchi, Yuko Kotake, Takayoshi Kyoda, et al. Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield. Journal of human genetics. 2024
Kazuki Watanabe, Tomoyasu Bunai, Masamune Sakamoto, Sayaka Ishigaki, Takamasa Iwakura, Naro Ohashi, Rie Wakatsuki, Akiyuki Takenouchi, Moriya Iwaizumi, Yoshihiro Hotta, et al. A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis. Journal of neurology. 2024

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MISC (122)：

藤澤泰子, 増永陽平, 矢澤隆志, 佐野伸一朗, 才津浩智, 谷川渉. HSD17B3異常症のステロイドプロフィール. 臨床内分泌代謝Update抄録集(Web). 2023. 33rd
藤澤泰子, 増永陽平, 矢澤隆志, 佐野伸一朗, 才津浩智, 谷川渉, 緒方勤, 緒方勤, 緒方勤. Comprehensive Blood Steroid Profile Analysis in Two Cases of HSD17B3 deficiency confirmed by genetic and functional analysis. 日本小児内分泌学会学術集会プログラム・抄録集. 2023. 56th
青戸一司, 高林秀次, 武藤弘樹, 才津浩智. 簡便なi-GONAD法によるFlag(DYKDDDDK)タグを挿入したマウスの作製とその有用性. 日本解剖学会総会・全国学術集会抄録集(CD-ROM). 2023. 128th
渡邊一樹, 若月里江, 武内智康, 才津浩智, 中村友彦. 両側性ACAGGリピート延長を認めたCANVASの1例. 臨床神経学. 2022. 62. 6. 504-504
渡邊一樹, 若月里江, 武内智康, 才津浩智, 中村友彦. 両側性ACAGGリピート延長を認めたCANVASの1例. 臨床神経学. 2022. 62. 6. 504-504

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Patents (8)：

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Books (11)：

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Lectures and oral presentations (35)：

発達期脳神経疾患の遺伝要因と分子病態の解明
(第110回東海臨床遺伝・代謝懇話会 2019)
発達期脳神経疾患の分子病態の解明
(第24回日本小児神経学会東北地方会 2018)
遺伝子診断技術
(第28回遺伝医学セミナー 2018)
網羅的遺伝子解析による遺伝性疾患の診断
(第58回日本臨床化学会年次学術集会 2018)
難治性疾患の全エクソーム解析
(Endocrinology Debate and Global Exchange in Japan 2018)

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Education (2)：

Professional career (1)：

Work history (4)：

2016/01 - 現在 Hamamatsu University School of Medicine Faculty of Medicine
2010/04 - 2015/12 Yokohama City University Graduate School of Medicine Associate Professor
2006/07 - 2010/03 Yokohama City University School of Medicine Medical Course , Human Genetics
2005/04 - 2006/06 Kyoto University Graduate School of Medicine

Committee career (11)：

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Awards (5)：

Association Membership(s) (7)：

日本遺伝子診療学会 , THE JAPANESE BIOCHEMICAL SOCIETY , THE MOLECULAR BIOLOGY SOCIETY OF JAPAN , アメリカ人類遺伝学会 , 日本先天異常学会 , 日本人類遺伝学会 , 日本産婦人科学会

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