RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients

Atypical presentation of moyamoya disease in an infant with a de novoRNF213variant

(2015) Tamar Harel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells

(2015) Kazuhiro Ohkubo et al.   Scientific Reports

RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya Disease

(2014) Alana C. Cecchi et al.   STROKE

Moyamoya disease-associated protein mysterin/RNF213 is a novel AAA+ ATPase, which dynamically changes its oligomeric state

(2014) Daisuke Morito et al.   Scientific Reports

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

(2013) Toshiaki Hitomi et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

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

(2011) Wanyang Liu et al.   PLoS One

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

(2010) Fumiaki Kamada et al.   JOURNAL OF HUMAN GENETICS