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
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
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
Adult Moyamoya Disease and Moyamoya Syndrome: What Is New?
Uchiyama S et al.
Cerebrovascular Diseases Extra, 2024
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
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
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
DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease.
Kundishora AJ et al.
Jama Neurology, 2021
Cardiac manifestations in a western moyamoya disease population: a single-center descriptive study and review.
Larson AS et al.
Neurosurgical Review, 2021
UBC13 is an RNF213-associated E2 ubiquitin-conjugating enzyme, and Lysine 63-linked ubiquitination by the RNF213-UBC13 axis is responsible for angiogenic activity.
Habu T et al.
Faseb Bioadvances, 2021
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
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
The AAA+ ATPase/ubiquitin ligase mysterin stabilizes cytoplasmic lipid droplets.
Sugihara M et al.
The Journal of Cell Biology, 2019
RNF213 Polymorphism in Intracranial Artery Dissection.
Kim JS et al.
Journal of Stroke, 2018
Comments on "RNF213 p.R4810k Variant and Intracranial Arterial Stenosis or Occlusion in Relatives of Patients with Moyamoya Disease".
Liu JC et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2018
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
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Omoyinmi E 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
Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease.
Kim EH et al.
Journal of Neurosurgery, 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
Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease.
Moteki Y et al.
Journal of the American Heart Association, 2015
Mutation genotypes of RNF213 gene from moyamoya patients in Taiwan.
Lee MJ et al.
Journal of the Neurological Sciences, 2015
RNF213 rare variants in an ethnically diverse population with Moyamoya disease.
Cecchi AC et al.
Stroke, 2014
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