京都府立医科大学：分子診断・治療医学

大学院科目名

分子診断・治療医学

医学部教室名

スタッフ

病院准教授：千代延　友裕

助教（学内講師）：前田　英子　　　　　　

研究内容

・希少疾患患者由来iPS細胞を用いた病態解析研究

・ショウジョウバエモデルを用いた神経変性疾患、神経発達症の新規治療探索（京都工芸繊維大学との共同研究）

・遺伝学的診断、遺伝カウンセリングに関する研究

研究業績

Miyamoto Y, Tozawa T, Ichise E, Hasegawa T, Fujimoto T, Itoh K, Morimoto M, Iehara T, Chiyonobu T. Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy. J Hum Genet 70: 281-285, 2025.
Matsuoka T, Yoshida T, Kora K, Yano N, Taura Y, Nakamura T, Tozawa T, Mori J, Chiyonobu T. A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8. Hum Genome Var 11: 39, 2024.
Matsuura A, Tozawa T, Moroto M, Miyamoto Y, Kawabe Y, Zuiki M, Hasegawa T, Kayaki T, Yano N, Yoshida T, Chiyonobu T, Morimoto M, Iehara T. Alternating cerebral edema and arterial dilations in Molybdenum cofactor deficiency type-A. J Inherit Metab Dis 47: 1109-1111, 2024.
Matsuoka T, Yoshida H, Kasai T, Tozawa T, Iehara T, Chiyonobu T. α-Synuclein pathology in Drosophila melanogaster is exacerbated by haploinsufficiency of Rop: Connecting STXBP1 encephalopathy with α-synucleinopathies. Hum Mol Genet, 33: 1328-1338, 2024.
Takada R, Tozawa T, Yamanaka T, Moroto M, Iehara T, Chiyonobu T. Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient. Hum Genome Var 11: 9, 2024.
Yamaguchi M, Huynh MA, Chiyonobu T, Yoshida H. Knockdown of Chronophage in the nervous system mimics features of neurodevelopmental disorders caused by BCL11A/B variants. Exp Cell Res 433: 113827, 2023.
Taura Y, Tozawa T, Fujimoto T, Ichise E, Chiyonobu T, Itoh K, Iehara T. Myosin Va, a novel interaction partner of STXBP1, is required to transport syntaxin1A to the plasma membrane. Neuroscience 524: 256-268, 2023.
Mori J, Hasegawa T, Miyamoto Y, Kitamura K, Morimoto H, Tozawa T, Pooh RK, Chiyonobu T. Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation. Hum Genome Var 9: 18, 2022.
Tomida A, Chiyonobu T, Tokuda S, Miyachi M, Murashima K, Hirata M, Nakagawa M, Iehara T, Kuroda J, Takayama K. Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant. Hum Genome Var 9: 8, 2022.
Mori J, Umemura A, Satake W, Cha PC, Suzuki Y, Itoh K, Chiyonobu T. TUBB E410K syndrome with childhood-onset nonalcoholic steatohepatitis. J Clin Endocrinol Metab 107: e38-e43, 2022.
Ichise E, Chiyonobu T, Ishikawa M, Tanaka Y, Shibata M, Tozawa T, Taura Y, Yamashita S, Yoshida M, Morimoto M, Higurashi N, Yamamoto T, Okano H, Hirose S. Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons. Hum Mol Genet 30: 1337-1348, 2021.

問い合わせ先

e-mail：chiyono@koto.kpu-m.ac.jp（千代延）

教室独自のHP