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
Genetic Variants in Recurrent Euploid Pregnancy Loss.
Aminbeidokhti M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Multisystemic Impact of RNF213 Arg4810Lys: A Comprehensive Review of Moyamoya Disease and Associated Vasculopathies.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2025
Intracranial Large Artery Involvement in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A Tale of Two Genes?
Zedde M 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
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
Detailed phenotype of RNF213 p.R4810K variant identified by the Chinese patients with acute ischaemic stroke or transient ischaemic attack.
Zhou H et al.
Stroke and Vascular 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
Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.
Chen Z et al.
Frontiers in Neurology, 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
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
RNF213-Associated Vascular Disease: A Concept Unifying Various Vasculopathies.
Hiraide T et al.
Life (basel, Switzerland), 2022
Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels.
Toyama M et al.
Plos One, 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
Primary Signet Ring Cell/Histiocytoid Carcinoma of the Eyelid: Somatic Mutations in CDH1 and Other Clinically Actionable Mutations Imply Early Use of Targeted Agents.
Wang LC et al.
Current Oncology (toronto, Ont.), 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 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
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
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
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