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
Interferon-Inducible E3 Ligase RNF213 Facilitates Host-Protective Linear and K63-Linked Ubiquitylation of Toxoplasma gondii Parasitophorous Vacuoles
Sign Up to like & getrecommendations! Published in 2022 at "mBio"
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