Hamamatsu University School of Medicine · Faculty of Medicine · 助教

Research keywords緑内障原因遺伝子の機能解明と新規原因遺伝子探索、疾患遺伝子変異データベースの構築

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• Development of a time-series shotgun metagenomics database for monitoring microbial communities at the Pacific coast of Japan.2021 · Scientific reports [巻]11 [号]1 [頁]12222 （2021年） [査読] 有
• Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism2021 · JOURNAL OF HUMAN GENETICS [巻]66 [号]2 [頁]205 -214 （2021年） [査読] 有
• A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel frameshift and known missense variants.2019 · Human genome variation [巻]6 [頁]18 （2019年） [査読] 有
• YPEL5 protein of the YPEL gene family is involved in the cell cycle progression by interacting with two distinct proteins RanBPM and RanBP10

• 神経筋疾患の筋組織脂肪化の脂質組成イメージングと病理メカニズムの推定
• 緑内障の分子機構追究:オプチニュリン結合蛋白のin utero機能抑制解析
• 網膜光障害モデルを用いた加齢黄斑変性機序追究：責任ゲノム領域の限定エキソーム解析
• 癌関連遺伝子・タンパク質パスウェイの画像表示システム開発

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