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A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
J Hum Genet. 2011 Jan;56(1):34-40. doi: 10.1038/jhg.2010.132. Epub 2010 Nov 4.
J Hum Genet. 2011.
PMID: 21048783
Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease.
Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I, Tsurusaki Y, Doi H, Sakai H, Saitsu H, Shimojima K, Yamamoto T, Higurashi M, Kawahara N, Kawauchi H, Nagasaka K, Okamoto N, Mori T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsubara Y, Kure S, Matsumoto N.
Miyatake S, et al.
Neurology. 2012 Mar 13;78(11):803-10. doi: 10.1212/WNL.0b013e318249f71f. Epub 2012 Feb 29.
Neurology. 2012.
PMID: 22377813
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Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity.
Miyatake S, Touho H, Miyake N, Ohba C, Doi H, Saitsu H, Taguri M, Morita S, Matsumoto N.
Miyatake S, et al.
J Hum Genet. 2012 Dec;57(12):804-6. doi: 10.1038/jhg.2012.105. Epub 2012 Aug 30.
J Hum Genet. 2012.
PMID: 22931863
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Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development.
Liu W, Morito D, Takashima S, Mineharu Y, Kobayashi H, Hitomi T, Hashikata H, Matsuura N, Yamazaki S, Toyoda A, Kikuta K, Takagi Y, Harada KH, Fujiyama A, Herzig R, Krischek B, Zou L, Kim JE, Kitakaze M, Miyamoto S, Nagata K, Hashimoto N, Koizumi A.
Liu W, et al.
PLoS One. 2011;6(7):e22542. doi: 10.1371/journal.pone.0022542. Epub 2011 Jul 20.
PLoS One. 2011.
PMID: 21799892
Free PMC article.
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Association between the rs112735431 polymorphism of the RNF213 gene and moyamoya disease: A case-control study and meta-analysis.
Huang Y, Cheng D, Zhang J, Zhao W.
Huang Y, et al.
J Clin Neurosci. 2016 Oct;32:14-8. doi: 10.1016/j.jocn.2015.11.035. Epub 2016 Aug 8.
J Clin Neurosci. 2016.
PMID: 27515544
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