Associated Papers
RNF213-Related Vasculopathy: An Entity with Diverse Phenotypic Expressions.
Yoshimoto T et al.
Genes, 2025
The role of the RING finger protein 213 gene in Moyamoya disease.
Deng X et al.
Fluids and Barriers of the Cns, 2025
Identification of potentially deleterious mutations in gastric cancer using patient-derived xenograft models.
Kong L et al.
Frontiers in Genetics, 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
Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.
Patiño-García A et al.
Ebiomedicine, 2024
RNF213-Related Vasculopathy: Various Systemic Vascular Diseases Involving RNF213 Gene Mutations: Review.
Murai Y et al.
Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi, 2024
Different phenotypes of moyamoya disease in a Chinese familial case involving heterozygous c.14429G>a variant in RNF213.
Li F et al.
British Journal of Neurosurgery, 2023
RNF213 loss-of-function promotes pathological angiogenesis in moyamoya disease via the Hippo pathway.
Ye F et al.
Brain : a Journal of Neurology, 2023
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
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
Ognibene M et al.
Cancers, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 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
Moyamoya disease: diagnosis and interventions.
Ihara M et al.
The Lancet. Neurology, 2022
The Genetic Basis of Moyamoya Disease.
Mertens R et al.
Translational Stroke Research, 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
Moyamoya Disease and Spectrums of RNF213 Vasculopathy.
Bang OY et al.
Translational Stroke Research, 2020
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
The Clinical and Vascular Characteristics of RNF213 c.14576G>A Variant-Related Intracranial Major Artery Disease in China.
Cheng W et al.
Behavioural Neurology, 2019
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Muscat AM et al.
Oncotarget, 2018
RNF213 Variant Diversity Predisposes Distinct Populations to Dissimilar Cerebrovascular Diseases.
Lin J et al.
Biomed Research International, 2018
Extracranial and Intracranial Vasculopathy With "Moyamoya Phenomenon" in Association With Alagille Syndrome.
Delaney S et al.
Frontiers in Neurology, 2018
The Role of RNF213 4810G>A and 4950G>A Variants in Patients with Moyamoya Disease in Korea.
Park YS et al.
International Journal of Molecular Sciences, 2017
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
Caveolin-1, Ring finger protein 213, and endothelial function in Moyamoya disease.
Bang OY et al.
International Journal of Stroke : Official Journal of the International Stroke Society, 2016
RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population.
Zhou S et al.
American Journal of Human Genetics, 2016
Role of Ring Finger Protein 213 in Moyamoya Disease.
Ma YG et al.
Chinese Medical Journal, 2016
Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease.
Kim EH et al.
Journal of Neurosurgery, 2016
The Pathophysiology of Moyamoya Disease: An Update.
Bang OY et al.
Journal of Stroke, 2016
A Polymorphism in RNF213 Is a Susceptibility Gene for Intracranial Atherosclerosis.
Bang OY et al.
Plos One, 2016
Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease.
Moteki Y et al.
Journal of the American Heart Association, 2015
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T et al.
Plos One, 2014
Genetic variant RNF213 c.14576G>A in various phenotypes of intracranial major artery stenosis/occlusion.
Miyawaki S et al.
Stroke, 2013
Molecular analysis of RNF213 gene for moyamoya disease in the Chinese Han population.
Wu Z et al.
Plos One, 2012
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
Kamada F et al.
Journal of Human Genetics, 2011
Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development.
Liu W et al.
Plos One, 2011
Rare variants in RNF213, a susceptibility gene for moyamoya disease, are found in patients with pulmonary hypertension and aggravate hypoxia-induced pulmonary hypertension in mice.
Kobayashi H et al.
Pulmonary Circulation, 0