Okuno Hironobu

Research field (2)： Fetal medicine/Pediatrics , Developmental biology

Research theme for competitive and other funds (5)：

2022 - 2025 小崎過成長症候群患者iPS細胞由来脳血液関門モデルを用いた疾患メカニズムの解明
2019 - 2023 PDGFRB異常による新規過成長症候群の病態解明と治療法開発
2018 - 2022 Elucidation of the mechanism of methylation maintenance of imprinting region using iPS cells
2016 - 2020 Elucidation of the etiology and development of the novel therapy using stem cells from human exfoliated deciduous teeth for Hirschsprung's disease and its allied disorders
2014 - 2018 Neural crest disease model using iPS cells and elucidation of pathophysiology for drug discovery

Papers (17)：

Mamiko Yamada, Hironobu Okuno, Nobuhiko Okamoto, Hisato Suzuki, Fuyuki Miya, Toshiki Takenouchi, Kenjiro Kosaki. Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing. European journal of medical genetics. 2023. 66. 2. 104690-104690
Tsukasa Sanosaka, Hironobu Okuno, Noriko Mizota, Tomoko Andoh-Noda, Miki Sato, Ryo Tomooka, Satoe Banno, Jun Kohyama, Hideyuki Okano. Chromatin remodeler CHD7 targets active enhancer region to regulate cell type-specific gene expression in human neural crest cells. Scientific reports. 2022. 12. 1. 22648-22648
Hisato Suzuki, Simo Li, Tomoharu Tokutomi, Chisen Takeuchi, Miyuki Takahashi, Mamiko Yamada, Hironobu Okuno, Fuyuki Miya, Toshiki Takenouchi, Hironao Numabe, et al. De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments. Human molecular genetics. 2022. 31. 24. 4173-4182
Hironobu Okuno, Hideyuki Okano. Modeling human congenital disorders with neural crest developmental defects using patient-derived induced pluripotent stem cells. Regenerative therapy. 2021. 18. 275-280
Toshiki Takenouchi, Hironobu Okuno, Kenjiro Kosaki. Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta. American journal of medical genetics. Part C, Seminars in medical genetics. 2019. 181. 4. 650-657

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MISC (18)：

奥野博庸. 【小児遺伝子疾患事典】先天異常症候群 CHD7(関連疾患:CHARGE症候群). 小児科診療. 2021. 84. 11. 1428-1430
奥野博庸. 【小児遺伝子疾患事典】先天異常症候群 NIPBL(関連疾患:Cornelia de Lange症候群). 小児科診療. 2021. 84. 11. 1456-1458
江川潔, 平田快洋, 白石秀明, 佐藤大介, 齋藤伸治, 高橋幸利, 奥野博庸, 石川充, 岡野栄之. Angelman症候群患者iPS細胞由来神経細胞における電気生理学的検討. 脳と発達. 2020. 52. 4. 272-272
奥野博庸, 岡野栄之. CHARGE症候群. 遺伝子医学. 2018. 8. 1. 89-92
江川潔, 平田快洋, 白石秀明, 佐藤大介, 齋藤伸治, 高橋幸利, 奥野博庸, 石川充, 岡野栄之. アンジェルマン症候群患者由来iPS細胞を用いた興奮性神経細胞機能評価. 脳と発達. 2018. 50. Suppl. S301-S301

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