S
Shigeo Kure
Researcher at Tohoku University
Publications - 421
Citations - 12504
Shigeo Kure is an academic researcher from Tohoku University. The author has contributed to research in topics: Medicine & Gene. The author has an hindex of 50, co-authored 393 publications receiving 10601 citations. Previous affiliations of Shigeo Kure include Dokkyo Medical University & Nagoya University.
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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.
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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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Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
Masao Nagasaki,Jun Yasuda,Fumiki Katsuoka,Naoki Nariai,Kaname Kojima,Yosuke Kawai,Yumi Yamaguchi-Kabata,Junji Yokozawa,Inaho Danjoh,Sakae Saito,Yukuto Sato,Takahiro Mimori,Kaoru Tsuda,Rumiko Saito,Xiaoqing Pan,Satoshi Nishikawa,Shin Ito,Yoko Kuroki,Osamu Tanabe,Nobuo Fuse,Shinichi Kuriyama,Hideyasu Kiyomoto,Atsushi Hozawa,Naoko Minegishi,James Douglas Engel,Kengo Kinoshita,Shigeo Kure,Nobuo Yaegashi,Masayuki Yamamoto +28 more
TL;DR: The value of high-coverage sequencing for constructing population-specific variant panels, which covers 99.0% SNVs of minor allele frequency ≥0.1%, is demonstrated, and its value for identifying causal rare variants of complex human disease phenotypes in genetic association studies is demonstrated.
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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.”