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Results: 1 to 20 of 147

1.

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.

Neurology. 2012 Mar 13;78(11):803-10. doi: 10.1212/WNL.0b013e318249f71f. Epub 2012 Feb 29.

PMID:
22377813
[PubMed - indexed for MEDLINE]
2.

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.

J Hum Genet. 2012 Dec;57(12):804-6. doi: 10.1038/jhg.2012.105. Epub 2012 Aug 30.

PMID:
22931863
[PubMed - indexed for MEDLINE]
3.

Identification of a genetic variant common to moyamoya disease and intracranial major artery stenosis/occlusion.

Miyawaki S, Imai H, Takayanagi S, Mukasa A, Nakatomi H, Saito N.

Stroke. 2012 Dec;43(12):3371-4. doi: 10.1161/STROKEAHA.112.663864. Epub 2012 Sep 25. Erratum in: Stroke. 2012 Dec;43(12):e182.

PMID:
23010677
[PubMed - indexed for MEDLINE]
Free Article
4.

Genetic variant RNF213 c.14576G>A in various phenotypes of intracranial major artery stenosis/occlusion.

Miyawaki S, Imai H, Shimizu M, Yagi S, Ono H, Mukasa A, Nakatomi H, Shimizu T, Saito N.

Stroke. 2013 Oct;44(10):2894-7. doi: 10.1161/STROKEAHA.113.002477. Epub 2013 Aug 22.

PMID:
23970789
[PubMed - indexed for MEDLINE]
Free Article
5.

Molecular analysis of RNF213 gene for moyamoya disease in the Chinese Han population.

Wu Z, Jiang H, Zhang L, Xu X, Zhang X, Kang Z, Song D, Zhang J, Guan M, Gu Y.

PLoS One. 2012;7(10):e48179. doi: 10.1371/journal.pone.0048179. Epub 2012 Oct 23.

PMID:
23110205
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.

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.

J Hum Genet. 2011 Jan;56(1):34-40. doi: 10.1038/jhg.2010.132. Epub 2010 Nov 4.

PMID:
21048783
[PubMed - indexed for MEDLINE]
7.

RNF213 rare variants in an ethnically diverse population with Moyamoya disease.

Cecchi AC, Guo D, Ren Z, Flynn K, Santos-Cortez RL, Leal SM, Wang GT, Regalado ES, Steinberg GK, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics, Grotta JC, Nickerson DA, Pannu H, Milewicz DM.

Stroke. 2014 Nov;45(11):3200-7. doi: 10.1161/STROKEAHA.114.006244. Epub 2014 Oct 2.

PMID:
25278557
[PubMed - indexed for MEDLINE]
8.

Impacts and interactions of PDGFRB, MMP-3, TIMP-2, and RNF213 polymorphisms on the risk of Moyamoya disease in Han Chinese human subjects.

Wang X, Zhang Z, Liu W, Xiong Y, Sun W, Huang X, Jiang Y, Ni G, Sun W, Zhou L, Wu L, Zhu W, Li H, Liu X, Xu G.

Gene. 2013 Sep 10;526(2):437-42. doi: 10.1016/j.gene.2013.05.083. Epub 2013 Jun 12.

PMID:
23769926
[PubMed - indexed for MEDLINE]
9.

Temporal profile of the vascular anatomy evaluated by 9.4-T magnetic resonance angiography and histopathological analysis in mice lacking RNF213: a susceptibility gene for moyamoya disease.

Sonobe S, Fujimura M, Niizuma K, Nishijima Y, Ito A, Shimizu H, Kikuchi A, Arai-Ichinoi N, Kure S, Tominaga T.

Brain Res. 2014 Mar 13;1552:64-71. doi: 10.1016/j.brainres.2014.01.011. Epub 2014 Jan 17.

PMID:
24440776
[PubMed - indexed for MEDLINE]
10.

The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability by mitotic abnormality.

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.

Biochem Biophys Res Commun. 2013 Oct 4;439(4):419-26. doi: 10.1016/j.bbrc.2013.08.067. Epub 2013 Aug 27.

PMID:
23994138
[PubMed - indexed for MEDLINE]
11.

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.

PLoS One. 2011;6(7):e22542. doi: 10.1371/journal.pone.0022542. Epub 2011 Jul 20.

PMID:
21799892
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Familial occurrence of moyamoya disease: a clinical study.

Seol HJ, Wang KC, Kim SK, Hwang YS, Kim KJ, Cho BK.

Childs Nerv Syst. 2006 Sep;22(9):1143-8. Epub 2006 Mar 25.

PMID:
16565850
[PubMed - indexed for MEDLINE]
13.

Moyamoya disease among young patients: its aggressive clinical course and the role of active surgical treatment.

Kim SK, Seol HJ, Cho BK, Hwang YS, Lee DS, Wang KC.

Neurosurgery. 2004 Apr;54(4):840-4; discussion 844-6.

PMID:
15046649
[PubMed - indexed for MEDLINE]
14.

Clinical features of familial juvenile cases of moyamoya disease: analysis of patients treated in a single institute over a 28-year period.

Mukawa M, Nariai T, Matsushima Y, Ohno K.

J Neurosurg Pediatr. 2013 Aug;12(2):175-80. doi: 10.3171/2013.4.PEDS12420. Epub 2013 May 31.

PMID:
23725354
[PubMed - indexed for MEDLINE]
15.

Clinical and radiographic features of moyamoya disease in patients with both cerebral ischaemia and haemorrhage.

Hishikawa T, Tokunaga K, Sugiu K, Date I.

Br J Neurosurg. 2013 Apr;27(2):198-201. doi: 10.3109/02688697.2012.717983. Epub 2012 Aug 30.

PMID:
22934580
[PubMed - indexed for MEDLINE]
16.

Posterior cerebral artery involvement in moyamoya disease: initial infarction and angle between PCA and basilar artery.

Lee JY, Kim SK, Cheon JE, Choi JW, Phi JH, Kim IO, Cho BK, Wang KC.

Childs Nerv Syst. 2013 Dec;29(12):2263-9. doi: 10.1007/s00381-013-2123-7. Epub 2013 May 8.

PMID:
23653141
[PubMed - indexed for MEDLINE]
17.

Downregulation of Securin by the variant RNF213 R4810K (rs112735431, G>A) reduces angiogenic activity of induced pluripotent stem cell-derived vascular endothelial cells from moyamoya patients.

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.

Biochem Biophys Res Commun. 2013 Aug 16;438(1):13-9. doi: 10.1016/j.bbrc.2013.07.004. Epub 2013 Jul 12.

PMID:
23850618
[PubMed - indexed for MEDLINE]
18.

Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 in East and Southeast Asian populations.

Liu W, Hitomi T, Kobayashi H, Harada KH, Koizumi A.

Neurol Med Chir (Tokyo). 2012;52(5):299-303.

PMID:
22688066
[PubMed - indexed for MEDLINE]
Free Article
19.

Single nucleotide polymorphisms of tissue inhibitor of metalloproteinase genes in familial moyamoya disease.

Kang HS, Kim SK, Cho BK, Kim YY, Hwang YS, Wang KC.

Neurosurgery. 2006 Jun;58(6):1074-80; discussion 1074-80.

PMID:
16723886
[PubMed - indexed for MEDLINE]
20.

Clinical features, surgical treatment and long-term outcome in adult patients with Moyamoya disease in China.

Bao XY, Duan L, Li DS, Yang WZ, Sun WJ, Zhang ZS, Zong R, Han C.

Cerebrovasc Dis. 2012;34(4):305-13. doi: 10.1159/000343225. Epub 2012 Nov 8.

PMID:
23146868
[PubMed - indexed for MEDLINE]
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