ReviewEnvironmental health and preventive medicine2016
A new horizon of moyamoya disease and associated health risks explored through RNF213.
Review in Environmental health and preventive medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers, 4 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
83 citing papers in PubMed, 4 syntheses or guidelines pooled it, 129 citations in OpenAlex.
- Postoperative seizure, stroke, hemorrhage, and cerebral hyperperfusion syndrome rates in adult patients with moyamoya disease undergoing revascularization: a systematic review and proportional meta-analysis.Neurosurgical review · 2026Pooled it
- Pooled it
- Mapping Trends in Moyamoya Angiopathy Research: A 10-Year Bibliometric and Visualization-Based Analyses of the Web of Science Core Collection (WoSCC).Frontiers in neurology · 2021Pooled it
- Rare variants of RNF213 and moyamoya/non-moyamoya intracranial artery stenosis/occlusion disease risk: a meta-analysis and systematic review.Environmental health and preventive medicine · 2017Pooled it
- Extracellular Vesicle miR-558 Regulates Endothelial Function Through HMGB2 in Adult Moyamoya Disease.Cells · 2026Article
- RNF213 in Panvascular Disease: A Molecular Hub Linking Genetic Susceptibility to Systemic Vasculopathy.Biomedicines · 2026Review
- Delineating the Genetic Basis of RNF213-related vasculopathies: The association of PKHD1 variants with bilateral cerebral vasculopathy.European journal of human genetics : EJHG · 2026Article
- Bilateral persistence of the proatlantal intersegmental arteries in moyamoya syndrome: illustrative case.Journal of neurosurgery. Case lessons · 2026Article
- Multi-omics profiling of gut microbiota and host transcriptome identifies diagnostic signatures and mechanistic links in moyamoya disease.BMC microbiology · 2026Article
- Molecular and multimodal biomarkers in Moyamoya disease: from pathogenic mechanisms to clinical translation.European journal of medical research · 2026Review
- Non-Atherosclerotic and Genetic Intracranial Stenoses: Diagnostic Challenges and Emerging Genetic Insights.Journal of neuroendovascular therapy · 2026Review
- Advances in cerebrovascular reserve function assessment for moyamoya disease.BMJ neurology open · 2026Review
- Identification and genotype-phenotype correlation ofFrontiers in neurology · 2026Article
- Moyamoya Disease: Pathophysiology, Diagnosis, and Treatment.Deutsches Arzteblatt international · 2025Review
- Moyamoya Disease and the Risk of Parkinson's Disease.Annals of clinical and translational neurology · 2025Article
- Study on Abnormal Angiogenesis in Moyamoya Disease via Mitochondrial D-Loop Methylation.Brain and behavior · 2025Article
- Multisystemic Impact of RNF213 Arg4810Lys: A Comprehensive Review of Moyamoya Disease and Associated Vasculopathies.International journal of molecular sciences · 2025Review
- Review
- RNF213 Mutation Associated with the Progression from Middle Cerebral Artery Steno-Occlusive Disease to Moyamoya Disease.Translational stroke research · 2025Observational
- Review
23 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The cerebrovascular disorder moyamoya disease (MMD) was first described in 1957 in Japan, and is typically considered to be an Asian-specific disease. However, it is globally recognized as one of the major causes of childhood stroke. Although several monogenic diseases are known to be complicated by Moyamoya angiopathy, the ring finger protein 213 gene (RNF213) was identified as a susceptibility gene for MMD. RNF213 is unusual, because (1) it induces MMD with no other recognizable phenotypes, (2) the RNF213 p.R4810K variant is an Asian founder mutation common to Japanese, Korean and Chinese with carrier rates of 0.5-2% of the general population but a low penetrance, and (3) it encodes a relatively largest proteins with a dual AAA+ ATPase and E3 Ligase activities. In this review, we focus on the genetics and genetic epidemiology of RNF213, the pathology of RNF213 R4810K, and the molecular functions of RNF213, and also address the public health contributions to current unresolved issues of MMD. We also emphasize the importance of a more updated definition for MMD, of qualified cohort studies based on genetic epidemiology and an awareness of the ethical issues associated with genetic testing of carriers.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.