RNF213 p.Arg4810Lys Variant Is Associated with Higher Stenosis Progression in Asymptomatic Intracranial Artery Stenosis
Sign Up to like & getrecommendations! Published in 2024 at "Translational Stroke Research"
DOI: 10.1007/s12975-024-01309-x
Abstract: Intracranial artery stenosis (ICAS) is a significant contributor to ischemic stroke, with the RNF213 p.Arg4810Lys variant identified as a related genetic factor. We explored the clinical outcomes of the RNF213 genotype in patients with asymptomatic… read more here.
Keywords: stenosis; rnf213 arg4810lys; stenosis progression; rnf213 ... See more keywords
De novo development of Moyamoya disease after stereotactic radiosurgery for brain arteriovenous malformation in a patient with RNF213 p.Arg4810Lys (rs112735431): A case report.
Sign Up to like & getrecommendations! Published in 2020 at "World neurosurgery"
DOI: 10.1016/j.wneu.2020.05.068
Abstract: BACKGROUND Reports of cases diagnosed as Moyamoya disease (MMD) after stereotactic radiosurgery (SRS) for arteriovenous malformation (AVM) are extremely rare. In recent years, RNF213 has been identified as a susceptibility gene of MMD, but the… read more here.
Keywords: rnf213; mmd; case; moyamoya disease ... See more keywords
ATP functions as a pathogen-associated molecular pattern to activate the E3 ubiquitin ligase RNF213
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DOI: 10.1038/s41467-025-59444-4
Abstract: The giant E3 ubiquitin ligase RNF213 is a conserved component of mammalian cell-autonomous immunity, limiting the replication of bacteria, viruses and parasites. To understand how RNF213 reacts to these unrelated pathogens, we employ chemical and… read more here.
Keywords: pathogen associated; ubiquitin ligase; ligase rnf213; associated molecular ... See more keywords
RNF213 in moyamoya disease: Genotype–phenotype association and the underlying mechanism
Sign Up to like & getrecommendations! Published in 2024 at "Chinese Medical Journal"
DOI: 10.1097/cm9.0000000000002985
Abstract: Abstract Moyamoya disease (MMD) is a cerebrovascular disorder characterized by a steno-occlusive internal carotid artery and compensatory vascular network formation. Although the precise pathogenic mechanism remains elusive, genetic association studies have identified RNF213 as the… read more here.
Keywords: disease; genotype phenotype; mechanism; association ... See more keywords
Interferon-Inducible E3 Ligase RNF213 Facilitates Host-Protective Linear and K63-Linked Ubiquitylation of Toxoplasma gondii Parasitophorous Vacuoles
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DOI: 10.1128/mbio.01888-22
Abstract: Globally, approximately one out of three people become infected with the obligate intracellular parasite Toxoplasma. These infections are typically asymptomatic but can cause severe disease and mortality in immunocompromised individuals. Infections can also be passed… read more here.
Keywords: toxoplasma gondii; toxoplasma; ligase; rnf213 ... See more keywords
Moyamoya Disease Susceptibility Gene RNF213 Regulates Endothelial Barrier Function
Sign Up to like & getrecommendations! Published in 2022 at "Stroke"
DOI: 10.1161/strokeaha.120.032691
Abstract: Background: Variants in the ring finger protein 213 (RNF213) gene are known to be associated with increased predisposition to cerebrovascular diseases development. Genomic studies have identified RNF213 as a major risk factor of Moyamoya disease… read more here.
Keywords: barrier; brain; moyamoya disease; rnf213 ... See more keywords
Rare RNF213 variants and the risk of intracranial artery stenosis/occlusion disease in Chinese population: a case-control study
Sign Up to like & getrecommendations! Published in 2019 at "BMC Medical Genetics"
DOI: 10.1186/s12881-019-0788-9
Abstract: BackgroundRNF213 rare variant-p.R4810K (rs112735431) was significantly associated with intracranial artery stenosis/occlusion disease (ICASO) in Japan and Korea and to a lesser degree in China. Considering the allelic heterogeneity, we performed target exome sequencing of RNF213… read more here.
Keywords: rnf213; stenosis occlusion; occlusion disease; rare variants ... See more keywords
Predictive role of heterozygous p.R4810K of RNF213 in the phenotype of Chinese moyamoya disease
Sign Up to like & getrecommendations! Published in 2020 at "Neurology"
DOI: 10.1212/wnl.0000000000008901
Abstract: Objective Precise genetic analyses were conducted with ring finger protein 213 (RNF213) in relation to a particular clinical phenotype in Chinese patients with moyamoya disease (MMD) to determine whether heterozygosity is responsible for the early-onset… read more here.
Keywords: phenotype chinese; rnf213; phenotype; r4810k ... See more keywords
Differences in the Genotype Frequency of the RNF213 Variant in Patients with Familial Moyamoya Disease in Kyushu, Japan
Sign Up to like & getrecommendations! Published in 2017 at "Neurologia medico-chirurgica"
DOI: 10.2176/nmc.oa.2017-0036
Abstract: The p.R4810K (rs11273543, c.14429G > A) variant of the RNF213 gene is associated with increased risk of Moyamoya disease (MMD), which is an idiopathic progressive intracranial vascular steno-occlusive disease, in Asian populations. Numerous variant association… read more here.
Keywords: frequency; rnf213; disease; japan ... See more keywords
Systemic Vasculopathy Associated With Homozygous RNF213 Mutation Presenting as Peripheral Pulmonary Artery Stenosis and Coronary Vasospasm Without Moyamoya Disease: A Case Report
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Korean Medical Science"
DOI: 10.3346/jkms.2025.40.e310
Abstract: We report the case of a 19-year-old man who presented with exertional dyspnea and recurrent chest pain, with a homozygous mutation in the RNF213 gene and without evidence of moyamoya disease. Coronary angiography revealed significant… read more here.
Keywords: mutation; case; pulmonary artery; artery ... See more keywords
RNF213 Polymorphisms in Intracranial Artery Dissection
Sign Up to like & getrecommendations! Published in 2024 at "Genes"
DOI: 10.3390/genes15060725
Abstract: The ring finger protein 213 gene (RNF213) is involved in several vascular diseases, both intracranial and systemic ones. Some variants are common in the Asian population and are reported as a risk factor for moyamoya… read more here.
Keywords: artery dissection; dissection; moyamoya disease; intracranial artery ... See more keywords