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

Research keywords遺伝医療・RASopathy・Noonan症候群・遺伝子変異解析・染色体異常・先天代謝異常・ゲノムワイド関連解析・薬理ゲノム返却・ネフローゼ遺伝子・口唇口蓋裂遺伝学

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• Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiencyO Sakamoto, Y Suzuki, Y Aoki, Li, X, M Hiratsuka, K Yanagihara, K Inui, T Okabe, S Yamaguchi, J Kudoh, N Shimizu, K Narisawa
• Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene.Yoshio Makita, Yoko Narumi, Makoto Yoshida, Tetsuya Niihori, Shigeo Kure, Kenji Fujieda, Yoichi Matsubara, Yoko Aoki
• Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis.Shin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama
• Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndrome.Niitsuma S, Kudo H, Kikuchi A, Hayashi T, Kumakura S, Kobayashi S, Okuyama Y, Kumagai N, Niihori T, Aoki Y, So T, Funayama R, Nakayama K, Shirota M, Kondo S, Kagami S, Tsukaguchi H, Iijima K, Kure S, Ishii N

• ヌーナン症候群類縁疾患の新しい発症メカニズムの同定とその病態解明青木 洋子, 新堀 哲也, 阿部 太紀
• シグナル伝達異常による先天奇形症候群の分子遺伝学的解明松原 洋一, 呉 繁夫, 青木 洋子
• 血小板減少症を伴う橈尺骨癒合症患者で同定されたEVI1変異体の機能解析新堀 哲也, 松原 洋一, 青木 洋子
• チロシン脱リン化酵素SHP2の脳における機能について青木 洋子

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