Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development

@inproceedings{Liu2011IdentificationOR,
  title={Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development},
  author={Wanyang Liu and Daisuke Morito and Seiji Takashima and Yohei Mineharu and Hatasu Kobayashi and Toshiaki Hitomi and Hirokuni Hashikata and Norio Matsuura and Satoru Yamazaki and Atsushi Toyoda and Ken-ichiro Kikuta and Yasushi Takagi and Kouji H Harada and Asao Fujiyama and Roman Herzig and Boris Krischek and Liping Zou and Jeong Eun Kim and Masafumi Kitakaze and Susumu Miyamoto and Kazuhiro Nagata and N. Hashimoto and Akio Koizumi},
  booktitle={PloS one},
  year={2011}
}
BACKGROUND Moyamoya disease is an idiopathic vascular disorder of intracranial arteries. Its susceptibility locus has been mapped to 17q25.3 in Japanese families, but the susceptibility gene is unknown. METHODOLOGY/PRINCIPAL FINDINGS Genome-wide linkage analysis in eight three-generation families with moyamoya disease revealed linkage to 17q25.3 (P<10(-4)). Fine mapping demonstrated a 1.5-Mb disease locus bounded by D17S1806 and rs2280147. We conducted exome analysis of the eight index cases… CONTINUE READING
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