Jichi Medical University · Graduate School of Medicine / Faculty of Medicine · 講師

Research keywordsヒトゲノム・生殖細胞・発生生物学・エピゲノム・神経学・分子遺伝学・人類遺伝学・小児科・神経発達障害・ミトコンドリア病

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• Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
• Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.
• Transient ischemic attack-like episodes without stroke-like lesions in MELAS.
• The impact of the Turkish population variome on the genomic architecture of rare disease traits.

• マウス始原生殖細胞におけるチミンＤＮＡグリコシラーゼ（ＴＤＧ）の機能解析
• フェロトーシスを軸としたミトコンドリア病の病態解明と治療開発
• 微量解析法による転写制御因子BLIMP1の細胞種横断的エピゲノム制御機構の解明
• ニューロメラニンMRIと脳機能検査を用いたADHDの脳内ホルモン機能検証

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