Associated Papers
Moyamoya disease: epidemiology, clinical features, pathogenesis, diagnosis and therapeutic interventions.
Cheng X et al.
Molecular Biomedicine, 2025
RNF213-Dependent EGFR and HER2 Activation Regulates Specific Downstream Signaling Pathways in Human Cancer Cells.
Fouad IM et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2025
RNF213 Acts as a Molecular Switch for Cav-1 Ubiquitination and Phosphorylation in Human Cells.
Choi J et al.
Cells, 2025
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
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
MMD-associated RNF213 SNPs encode dominant-negative alleles that globally impair ubiquitylation.
Bhardwaj A et al.
Life Science Alliance, 2022
The Genetic Basis of Moyamoya Disease.
Mertens R et al.
Translational Stroke Research, 2022
Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis.
Hongo H et al.
Scientific Reports, 2020
Association of Genetic Variants With Moyamoya Disease in 13 000 Individuals: A Meta-Analysis.
Wang X et al.
Stroke, 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
Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease.
Vilariño-Güell C et al.
Plos Genetics, 2019
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
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
RNF213 Variant Diversity Predisposes Distinct Populations to Dissimilar Cerebrovascular Diseases.
Lin J et al.
Biomed Research International, 2018
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 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
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 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
RNF213 rare variants in an ethnically diverse population with Moyamoya disease.
Cecchi AC et al.
Stroke, 2014