Varaico: Literature-Extracted Genetic Variants

Gene:RNF213
Variant:p.E4950D
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RNF213

NM_001256071.3:p.E4950D

Associated Papers

Peripheral blood GATA2 expression impacts RNF213 mutation penetrance and clinical severity in moyamoya disease.

Mineharu Y et al.

Stroke and Vascular Neurology, 2025

Association of Genetic Variants with Postoperative Donor Artery Development in Moyamoya Disease: RNF213 and Other Moyamoya Angiopathy-Related Gene Analysis.

Torazawa S et al.

Translational Stroke Research, 2025

Exploring RNF213 in Ischemic Stroke and Moyamoya Disease: From Cellular Models to Clinical Insights.

Tan BYQ et al.

Biomedicines, 2024

RNF213 in moyamoya disease: Genotype-phenotype association and the underlying mechanism.

Fang J et al.

Chinese Medical Journal, 2024

RNF213 p.Arg4810Lys Wild Type is Associated with De Novo Hemorrhage in Asymptomatic Hemispheres with Moyamoya Disease.

Torazawa S et al.

Translational Stroke Research, 2024

The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.

Zanoni P et al.

European Journal of Human Genetics : Ejhg, 2023

The emerging role of E3 ubiquitin ligase RNF213 as an antimicrobial host determinant.

Zhang Y et al.

Frontiers in Cellular and Infection Microbiology, 2023

Association of RNF213 Variants With Periventricular Anastomosis in Moyamoya Disease.

Xue Y et al.

Stroke, 2022

Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review.

Santoro C et al.

International Journal of Molecular Sciences, 2022

36012218 (PubMed )
Supplement: ijms-23-08952-s001.zip › Table_S3.pdf

Moyamoya disease: diagnosis and interventions.

Ihara M et al.

The Lancet. Neurology, 2022

Genome sequencing reveals the role of rare genomic variants in Chinese patients with symptomatic intracranial atherosclerotic disease.

Shi M et al.

Stroke and Vascular Neurology, 2022

Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia.

Murai Y et al.

Scientific Reports, 2021

Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis.

Hongo H et al.

Scientific Reports, 2020

Prevalence of RNF213 variants in symptomatic intracranial arterial stenosis/occlusion in China.

Sun X et al.

Molecular Genetics and Genomics : Mgg, 2020

Ethnic variation and the relevance of homozygous RNF 213 p.R4810.K variant in the phenotype of Indian Moya moya disease.

K A et al.

Plos One, 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

RNF213 Polymorphism in Intracranial Artery Dissection.

Kim JS et al.

Journal of Stroke, 2018

RNF213 Variant Diversity Predisposes Distinct Populations to Dissimilar Cerebrovascular Diseases.

Lin J et al.

Biomed Research International, 2018

Clonality, Heterogeneity, and Evolution of Synchronous Bilateral Ovarian Cancer.

Yin X et al.

Cancer Research, 2017

28972072 (PubMed )
Supplement: 00085472can171461-sup-183444_3_supp_4263540_vw5qwj.xlsx › S5

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

RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance.

Zhang Q et al.

Journal of Neurosurgery, 2017

Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease.

Jang MA et al.

Plos One, 2017

RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population.

Zhou S et al.

American Journal of Human Genetics, 2016

A new horizon of moyamoya disease and associated health risks explored through RNF213.

Koizumi A et al.

Environmental Health and Preventive Medicine, 2016

RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients.

Kobayashi H et al.

Plos One, 2016

Mutation genotypes of RNF213 gene from moyamoya patients in Taiwan.

Lee MJ et al.

Journal of the Neurological Sciences, 2015

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

Cecchi AC et al.

Stroke, 2014

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

Wu Z et al.

Plos One, 2012

Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development.

Liu W et al.

Plos One, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."