Y
Yoichi Matsubara
Researcher at Tohoku University
Publications - 209
Citations - 10581
Yoichi Matsubara is an academic researcher from Tohoku University. The author has contributed to research in topics: Gene & Mutation. The author has an hindex of 49, co-authored 204 publications receiving 9398 citations. Previous affiliations of Yoichi Matsubara include Gifu University & Osaka Medical College.
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Journal ArticleDOI
Germline mutations in HRAS proto-oncogene cause Costello syndrome
Yoko Aoki,Tetsuya Niihori,Hiroshi Kawame,Kenji Kurosawa,Hirofumi Ohashi,Yukichi Tanaka,Mirella Filocamo,Kumi Kato,Yoichi Suzuki,Shigeo Kure,Yoichi Matsubara +10 more
TL;DR: Four heterozygous de novo mutations of HRAS are identified in 12 of 13 affected individuals, suggesting that germline mutations in HRAS perturb human development and increase susceptibility to tumors.
Journal ArticleDOI
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
Tetsuya Niihori,Yoko Aoki,Yoko Narumi,Giovanni Neri,Hélène Cavé,Alain Verloes,Nobuhiko Okamoto,Raoul C.M. Hennekam,Gabriele Gillessen-Kaesbach,Dagmar Wieczorek,Maria Ines Kavamura,Kenji Kurosawa,Hirofumi Ohashi,Louise C. Wilson,Delphine Héron,Dominique Bonneau,Giuseppina Corona,Tadashi Kaname,Kenji Naritomi,Clarisse Baumann,Naomichi Matsumoto,Kumi Kato,Shigeo Kure,Yoichi Matsubara +23 more
TL;DR: Dysregulation of the RAS-RAF-ERK pathway is a common molecular basis for the three related disorders of Cardio-facio-cutaneous syndrome, which phenotypically overlaps with Noonan and Costello syndrome.
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A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
Fumiaki Kamada,Yoko Aoki,Ayumi Narisawa,Yu Abe,Shoko Komatsuzaki,Atsuo Kikuchi,Junko Kanno,Tetsuya Niihori,Masao Ono,Naoto Ishii,Yuji Owada,Miki Fujimura,Yoichi Mashimo,Yoichi Suzuki,Akira Hata,Shigeru Tsuchiya,Teiji Tominaga,Yoichi Matsubara,Shigeo Kure +18 more
TL;DR: Results indicate that RNF213 is the first identified susceptibility gene for MMD, and it is confirmed that mature lymphocytes express higher levels of Rnf213 mRNA than their immature counterparts.
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The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
TL;DR: It is suggested that disorders with mutations of molecules in the RAS/MAPK cascade (Noonan, LEOPARD, Costello, and CFC syndromes and neurofibromatosis type I) may be comprehensively termed “the RAS /MAPK syndrome.”
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Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
Shigeo Kure,Dian Chang Hou,Toshihiro Ohura,Hiroko Iwamoto,Shuhei Suzuki,Naruji Sugiyama,Osamu Sakamoto,Kunihiro Fujii,Yoichi Matsubara,Kuniaki Narisawa +9 more
TL;DR: Serum phenylalanine concentrations decreased in 4 patients with hyperphenylalaninemia after loading with tetrahydrobiopterin, suggesting a novel subtype of phenylAlanine hydroxylase deficiency that may respond to treatment with cofactor supplementation.