Concepedia

Homozygous c.14576G&gt;A variant of <i>RNF213</i> predicts early-onset and severe form of moyamoya disease

Satoko Miyatake, Noriko Miyake, Hajime Touho, A. Nishimura-Tadaki, Yasuhiko Kondo, Ichiro Okada, Yoshinori Tsurusaki, Hiroshi Doi, H. Sakai, Hirotomo Saitsu,

Neurology · 2012 · 300 citations · 21 references

DOI

Abstract

The homozygous c.14576G>A variant in RNF213 could be a good DNA biomarker for predicting the severe type of MMD, for which early medical/surgical intervention is recommended, and may provide a better monitoring and prevention strategy.

References

21

SIFT: predicting amino acid changes that affect protein function

P.C. Ng · Nucleic Acids Research · 2003 · 6.7K citations · Full text

, , +20

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

Fumiaki Kamada, Yoko Aoki, Ayumi Narisawa et al. · Journal of Human Genetics · 2010 · 732 citations · Full text

, , +6

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

Wanyang Liu, Daisuke Morito, Seiji Takashima et al. · PLoS ONE · 2011 · 700 citations · Full text

Guidelines for the diagnosis and treatment of spontaneous occlusion of the circle of Willis (`Moyamoya' disease)

Mariko Fukui · Clinical Neurology and Neurosurgery · 1997 · 624 citations

, , +3

Long-term outcome in children with moyamoya syndrome after cranial revascularization by pial synangiosis

R. Michael Scott, Jodi L. Smith, Richard L. Robertson et al. · Journal of Neurosurgery Pediatrics · 2004 · 550 citations