Associated Papers
Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis.
Hongo H et al.
Scientific Reports, 2020
Moyamoya disease patient mutations in the RING domain of RNF213 reduce its ubiquitin ligase activity and enhance NFκB activation and apoptosis in an AAA+ domain-dependent manner.
Takeda M et al.
Biochemical and Biophysical Research Communications, 2020
Rare RNF213 variants and the risk of intracranial artery stenosis/occlusion disease in Chinese population: a case-control study.
Liao X et al.
Bmc Medical Genetics, 2019
30925911 (PubMed )
Supplement: 12881_2019_788_MOESM2_ESM.xlsx › Sheet1
Rare variants of RNF213 and moyamoya/non-moyamoya intracranial artery stenosis/occlusion disease risk: a meta-analysis and systematic review.
Liao X et al.
Environmental Health and Preventive Medicine, 2017
Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians.
Guey S et al.
European Journal of Human Genetics : Ejhg, 2017
RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population.
Zhou S et al.
American Journal of Human Genetics, 2016
Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease.
Moteki Y et al.
Journal of the American Heart Association, 2015
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