Varaico: Literature-Extracted Genetic Variants

Gene:RNF213
Variant:p.R4828K
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RNF213

NM_001256071.3:p.R4828K

Associated Papers

RNF213 and cardiovascular disease: A review of histopathological, genetic perspectives, and potential molecular mechanisms.

Kawakami T et al.

Journal of Cardiology, 2026

Moyamoya disease: epidemiology, clinical features, pathogenesis, diagnosis and therapeutic interventions.

Cheng X et al.

Molecular Biomedicine, 2025

CXCL12/CXCR4 pathway as a novel therapeutic target for RNF213-associated pulmonary arterial hypertension.

Hiraide T et al.

Scientific Reports, 2024

MMD-associated RNF213 SNPs encode dominant-negative alleles that globally impair ubiquitylation.

Bhardwaj A et al.

Life Science Alliance, 2022

RNF213-Associated Vascular Disease: A Concept Unifying Various Vasculopathies.

Hiraide T et al.

Life (basel, Switzerland), 2022

The Genetic Basis of Moyamoya Disease.

Mertens R et al.

Translational Stroke Research, 2022

Moyamoya Disease: A Review of Current Literature.

Gupta A et al.

Cureus, 2020

RNF213 Variant Diversity Predisposes Distinct Populations to Dissimilar Cerebrovascular Diseases.

Lin J et al.

Biomed Research International, 2018

Mutation of rnf213a by TALEN causes abnormal angiogenesis and circulation defects in zebrafish.

Wen J et al.

Brain Research, 2016

Temporal profile of magnetic resonance angiography and decreased ratio of regulatory T cells after immunological adjuvant administration to mice lacking RNF213, a susceptibility gene for moyamoya disease.

Kanoke A et al.

Brain Research, 2016

The Pathophysiology of Moyamoya Disease: An Update.

Bang OY et al.

Journal of Stroke, 2016

Moyamoya Disease.

Fujimura M et al.

Frontiers of Neurology and Neuroscience, 2016

Temporal profile of the vascular anatomy evaluated by 9.4-tesla magnetic resonance angiography and histological analysis in mice with the R4859K mutation of RNF213, the susceptibility gene for moyamoya disease.

Kanoke A et al.

Brain Research, 2015

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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."