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The Impact of VEGFA rs2010963 on Bilaterality and Posterior Artery Stenosis in Patients with Moyamoya Disease.

Translational stroke research - 5 Aug 2026

Nakamura Akikazu, Akagawa Hiroyuki, Yamaguchi Koji, Azuma Kenko, Ishiguro Taichi, Hori Takahiro, Morita Shuhei, Aihara Yasuo, Vetiska Sandra, Mansur Ann, Radovanovic Ivan, Kawashima Akitsugu, Kawamata Takakazu, Nomura Shunsuke

Abstract excerpt

VEGFA plays a pivotal role in angiogenesis and is known to affect clinical phenotypes related to the vasculature in various diseases, such as cancer or stroke. However, it is still unclear how the VEGFA genotype influences the clinical phenotype of moyamoya disease (MMD). This study included 137 Japanese MMD patients (84 adult and 53 pediatric patients) carrying either the heterozygous RNF213 p.R4810K or the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42554913
DOI: 10.1007/s12975-026-01484-z

Genes

VEGFA
RNF213
MMD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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The Impact of VEGFA rs2010963 on Bilaterality and Posterior Artery Stenosis in Patients with Moyamoya Disease.PMID 42554913Read ↗

RNF213-Related Vasculopathy: Various Systemic Vascular Diseases Involving RNF213 Gene Mutations: Review.Semantic proximity Read ↗

RNF213 in moyamoya disease: Genotype-phenotype association and the underlying mechanism.Semantic proximity Read ↗

Research Progresses in Understanding the Pathophysiology of Moyamoya Disease.Semantic proximity Read ↗

The Susceptibility Pathogenesis of Moyamoya Disease.Semantic proximity Read ↗

Validation and Extension Study Exploring the Role of RNF213 p.R4810K in 2,877 Chinese Moyamoya Disease Patients.Semantic proximity Read ↗

RNF213 p.Arg4810Lys Heterozygosity in Moyamoya Disease Indicates Early Onset and Bilateral Cerebrovascular Events.Semantic proximity Read ↗

Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease.Semantic proximity Read ↗

Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individualsSemantic proximity Read ↗

Association between RNF213 c.14576G>A Variant (rs112735431) and Peripheral Pulmonary Artery Stenosis in Moyamoya Disease.Semantic proximity Read ↗

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

Distribution of Intracranial Major Artery Stenosis/Occlusion According to RNF213 Polymorphisms.Semantic proximity Read ↗

Different phenotypes of moyamoya disease in a Chinese familial case involving heterozygous c.14429G>a variant in RNF213.Semantic proximity Read ↗

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