| 1 | MYMY2, RNF213
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| The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability by mitotic abnormality.
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| Hitomi T, Habu T, Kobayashi H, Okuda H, Harada KH, Osafune K, Taura D, Sone M, Asaka I, Ameku T, Watanabe A, Kasahara T, Sudo T, Shiota F, Hashikata H, Takagi Y, Morito D, Miyamoto S, Nakao K, Koizumi A.
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| Biochem Biophys Res Commun 439(4):419-26. doi: 10.1016/j.bbrc.2013.08.067. Epub 2013 Aug 27. 2013
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| 2 | MYMY2, RNF213
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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.
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| Miyatake S, Touho H, Miyake N, Ohba C, Doi H, Saitsu H, Taguri M, Morita S, Matsumoto N.
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| J Hum Genet 57(12):804-6. doi: 10.1038/jhg.2012.105. Epub 2012 Aug 30.
2012
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| 3 | MYMY2, RNF213
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| Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development.
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| 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.
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| PLoS One 6(7):e22542. Epub 2011 Jul 20. 2011
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| 4 | MYMY2, RNF213
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| A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
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| Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S.
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| J Hum Genet 56(1):34-40. Epub 2010 Nov 4. 2011
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| 5 | MYMY1, MYMY2, MYMY3, MYMY5, MYMY6
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| Genetics of Moyamoya disease.
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| Roder C, Nayak NR, Khan N, Tatagiba M, Inoue I, Krischek B.
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| J Hum Genet 55(11):711-6. Epub 2010 Aug 26. 2010
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