Tohoku University · Faculty of Medicine / Graduate School of Medical Sciences · 助教

Research keywordsJapanese population genomics・allele frequency panel・fine-scale genetic map・whole-exome sequencing・steroid-resistant nephrotic syndrome・bleeding diathesis genetics・Charcot-Marie-Tooth disease・medical genomics

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• Susceptibility locus for non-obstructive azoospermia is localized within the HLA-DR/DQ subregion: Primary role of DQB1*0604Y. Matsuzaka, S. Makino, K. Okamoto, A. Oka, A. Tsujimura, K. Matsumiya, S. Takahara, A. Okuyama, M. Sada, R. Gotoh, T. Nakatani, M. Ota, Y. Katsuyama, G. Tamiya, H. Inoko
• Reduced Neuron-Specific Expression of the TAF1 Gene Is Associated with X-Linked Dystonia-ParkinsonismSatoshi Makino, Ryuji Kaji, Satoshi Ando, Maiko Tomizawa, Katsuhito Yasuno, Satoshi Goto, Shinnichi Matsumoto, Ma. Daisy Tabuena, Elma Maranon, Marita Dantes, Lillian V. Lee, Kazumasa Ogasawara, Ikuo Tooyama, Hiroyasu Akatsu, Masataka Nishimura, Gen Tamiya
• Gene structure and promoter for Crad2 encoding mouse cis-retinol/3α-hydroxysterol short-chain dehydrogenase isozymeKengo Tomita, Masahiro Sato, Kagemasa Kajiwara, Masafumi Tanaka, Gen Tamiya, Satoshi Makino, Maiko Tomizawa, Akiko Mizutani, Yuhko Kuwano, Takashi Shiina, Hiromasa Ishii, Minoru Kimura
• A Mutation of COX6A1 Causes a Recessive Axonal or Mixed Form of Charcot-Marie-Tooth DiseaseGen Tamiya, Satoshi Makino, Makiko Hayashi, Akiko Abe, Chikahiko Numakura, Masao Ueki, Atsushi Tanaka, Chizuru Ito, Kiyotaka Toshimori, Nobuhiro Ogawa, Tomoya Terashima, Hiroshi Maegawa, Daijiro Yanagisawa, Ikuo Tooyama, Masayoshi Tada, Osamu Onodera, Kiyoshi Hayasaka

• 基本転写因子ＴＡＦ１が関与する転写障害と神経変性の研究牧野 悟士, 遠山 育夫
• 大規模コホートの調査票における新規データクリーニング手法の開発牧野 悟士, 田宮 元, 櫻井 利恵子
• 伴性劣性ジストニアパーキンソニズムの原因遺伝子N-TAF1に関する機能解析牧野 悟士
• モデルマウス呼吸鎖複合体の解析に基づく中間型CMT（CMTRID）発症機構の解明牧野 悟士, 田宮 元, 遠山 育夫

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