Y
Yu Abe
Researcher at Tohoku University
Publications - 42
Citations - 905
Yu Abe is an academic researcher from Tohoku University. The author has contributed to research in topics: Multiple myeloma & Lenalidomide. The author has an hindex of 10, co-authored 36 publications receiving 703 citations. Previous affiliations of Yu Abe include National Institutes of Health.
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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.
Journal ArticleDOI
Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.
Yu Abe,Yoko Aoki,Shinichi Kuriyama,Hiroshi Kawame,Nobuhiko Okamoto,Kenji Kurosawa,Hirofumi Ohashi,Seiji Mizuno,Tsutomu Ogata,Shigeo Kure,Tetsuya Niihori,Yoichi Matsubara,Costello +12 more
TL;DR: A nationwide prevalence study of patients with Costello and CFC syndromes in Japan suggested that the number of adult patients is likely underestimated and the results represent a minimum prevalence.
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An Ultraconserved brain-specific enhancer within ADGRL3 (LPHN3) underpins attention-deficit/hyperactivity disorder susceptibility
Ariel F. Martinez,Yu Abe,Sung-Kook Hong,Kevin Molyneux,David Yarnell,Heiko Löhr,Wolfgang Driever,Maria T. Acosta,Mauricio Arcos-Burgos,Maximilian Muenke +9 more
TL;DR: expression quantitative trait loci analysis of postmortem human brain tissues revealed an association between rs2271338 and reduced ADGRL3 expression in the thalamus.
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Epilepsy in RAS/MAPK syndrome: Two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review
TL;DR: In this article, the authors reported two individual cases of CFC with severe neurological impairment consisting of infantile spasms with hypsarrhythmia and refractory epilepsy with multifocal epileptic paroxysms such as modified hypsarithmia.
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A Case of Late Onset Riboflavin-responsive Multiple Acyl-CoA Dehydrogenase Deficiency Manifesting as Recurrent Rhabdomyolysis and Acute Renal Failure
Rumiko Izumi,Naoki Suzuki,Mari Nagata,Takafumi Hasegawa,Yu Abe,Yuka Saito,Hiroshi Mochizuki,Maki Tateyama,Masashi Aoki +8 more
TL;DR: An adult case of late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency characterized by episodic recurrent rhabdomyolysis and acute renal failure after the age of 46 is reported.