Chiyonobu Tomohiro

チヨノブトモヒロ | Chiyonobu Tomohiro

Affiliation and department：

Research field (1)： Fetal medicine/Pediatrics

Research keywords (4)： neurodevelopmental disorder , epilepsy , Drosophila , induced pluripotent stem cell

Research theme for competitive and other funds (11)：

2023 - 2026 Molecular pathology investigation for targeted therapy of intractable pediatric epilepsy via mTOR pathway hyperactivation
2024 - 2025 患者iPS細胞を用いたmTOR系活性亢進による脳形成異常・てんかんの病態解明と核酸治療開発
2021 - 2024 Search for targeted therapies for alpha-synuclein-induced neurotoxicity in STXBP1 encephalopathy
2019 - 2022 新規相互作用タンパクに着目したSTXBP1てんかん性脳症の病態解明
2018 - 2021 ショウジョウバエを用いたリボソーム生合成異常による神経障害の病態解明

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Papers (66)：

Michiru Sasaki, Tohru Okanishi, Tsuyoshi Matsuoka, Ayumi Yoshimura, Shinsuke Maruyama, Tadashi Shiohama, Hiroki Hoshino, Tatsuo Mori, Hisakazu Majima, Hiroshi Matsumoto, et al. Infantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case Series. Pediatric neurology. 2024. 157. 29-38
Amane Matsuura, Takenori Tozawa, Masaharu Moroto, Yosuke Miyamoto, Yasuhiro Kawabe, Masashi Zuiki, Tatsuji Hasegawa, Taisei Kayaki, Naoko Yano, Takeshi Yoshida, et al. Alternating cerebral edema and arterial dilations in Molybdenum cofactor deficiency type-A. Journal of inherited metabolic disease. 2024
Taro Matsuoka, Hideki Yoshida, Takashi Kasai, Takenori Tozawa, Tomoko Iehara, Tomohiro Chiyonobu. α-Synuclein pathology in Drosophila melanogaster is exacerbated by haploinsufficiency of Rop: connecting STXBP1 encephalopathy with α-synucleinopathies. Human molecular genetics. 2024
Rei Takada, Takenori Tozawa, Takumi Yamanaka, Masaharu Moroto, Tomoko Iehara, Tomohiro Chiyonobu. Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient. Human genome variation. 2024. 11. 1. 9-9
Mizuki Yamaguchi, Man Anh Huynh, Tomohiro Chiyonobu, Hideki Yoshida. Knockdown of Chronophage in the nervous system mimics features of neurodevelopmental disorders caused by BCL11A/B variants. Experimental cell research. 2023. 433. 2. 113827-113827

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MISC (3)：

森本昌史, 千代延友裕, 戸澤雄紀, 長谷川龍志, 阪上智俊, 高井あかり, 一瀬栄佑, 全有耳, 吉田路子, 西村陽. 小児科での慢性期てんかん患者の診療における問題点. てんかん研究. 2018. 36. 2. 483-483
田畑雄一, 徳平夏子, 千代延友裕, 宮地充, 金田大介, 杉本篤哉, 細井創, 橋本悟. 精神発達遅滞児においても(蘇生後)意識レベルの評価にGlasgow coma scaleが有用であることが示唆された神経線維腫症の1例. 日本小児科学会雑誌. 2014. 118. 6. 975-975
田畑雄一, 徳平夏子, 橋本悟, 千代延友裕, 宮地充, 金田大介, 杉本篤哉, 細井創. 精神発達遅滞児においても(蘇生後)意識レベルの評価にGlasgow coma scaleが有用であることが示唆された神経線維腫症の一例. 日本小児科学会京都地方会会報. 2013. 44. 2. 12-12

Education (2)：

2002 - 2006 Kyoto Prefectural University of Medicine Graduate School of Medical Science
1992 - 1998 Kyoto Prefectural University of Medicine

Professional career (1)：

Work history (9)：

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Committee career (11)：

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