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

Research keywordscollagenopathy type II・hereditary nephropathy・hereditary cancer panels・cardiofaciocutaneous syndrome・LEOPARD syndrome・moyamoya disease・PRKAR1A deletion・myofibrillar myopathy

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• Sequential analysis of amino acid substitutions with hepatitis B virus in association with nucleoside/nucleotide analog treatment detected by deep sequencing.Masashi Ninomiya, Yasuteru Kondo, Tetsuya Niihori, Takeshi Nagashima, Takayuki Kogure, Eiji Kakazu, Osamu Kimura, Yoko Aoki, Yoichi Matsubara, Tooru Shimosegawa
• Biallelic GALM pathogenic variants cause a novel type of galactosemia.Yoichi Wada, Atsuo Kikuchi, Natsuko Arai-Ichinoi, Osamu Sakamoto, Yusuke Takezawa, Shinya Iwasawa, Tetsuya Niihori, Hiromi Nyuzuki, Yoko Nakajima, Erika Ogawa, Mika Ishige, Hiroki Hirai, Hideo Sasai, Ryoji Fujiki, Matsuyuki Shirota, Ryo Funayama, Masayuki Yamamoto, Tetsuya Ito, Osamu Ohara, Keiko Nakayama, Yoko Aoki, Seizo Koshiba, Toshiyuki Fukao, Shigeo Kure
• Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.Tetsuya Niihori, Meri Ouchi-Uchiyama, Yoji Sasahara, Takashi Kaneko, Yoshiko Hashii, Masahiro Irie, Atsushi Sato, Yuka Saito-Nanjo, Ryo Funayama, Takeshi Nagashima, Shin-Ichi Inoue, Keiko Nakayama, Keiichi Ozono, Shigeo Kure, Yoichi Matsubara, Masue Imaizumi, Yoko Aoki
• Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.Shoko Komatsuzaki, Yoko Aoki, Tetsuya Niihori, Nobuhiko Okamoto, Raoul C M Hennekam, Saskia Hopman, Hirofumi Ohashi, Seiji Mizuno, Yoriko Watanabe, Hotaka Kamasaki, Ikuko Kondo, Nobuko Moriyama, Kenji Kurosawa, Hiroshi Kawame, Ryuhei Okuyama, Masue Imaizumi, Takeshi Rikiishi, Shigeru Tsuchiya, Shigeo Kure, Yoichi Matsubara

• コステロ症候群患者におけるHRAS遺伝子解析および腫瘍発生メカニズムの解析新堀 哲也
• RAS/MAPK症候群の原因・病態の解明とその治療戦略青木 洋子, 松原 洋一, 新堀 哲也, 井上 晋一
• 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
• ＲＡＳ／ＭＡＰＫ症候群における遺伝子発現・エピジェネティクス解析新堀 哲也

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