ReviewTranslational stroke research2020
Moyamoya Disease and Spectrums of RNF213 Vasculopathy.
Review in Translational stroke research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers, 2 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
66 citing papers in PubMed, 2 syntheses or guidelines pooled it, 108 citations in OpenAlex.
- Extracranial vascular association of moyamoya disease: a systematic review and machine learning analysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Pooled it
- Pooled it
- Preliminary Study on the Application of Ultrahigh Field Magnetic Resonance in Moyamoya Disease.Oxidative medicine and cellular longevity · 2021Trial
- RNF213 in Panvascular Disease: A Molecular Hub Linking Genetic Susceptibility to Systemic Vasculopathy.Biomedicines · 2026Review
- De novo twig-like middle cerebral artery after suspected M1 dissection in early childhood with coexisting KRAS-mutated brain arteriovenous malformation: illustrative case.Journal of neurosurgery. Case lessons · 2026Article
- Molecular and Clinical Characterization of the Hb Tübingen [β106(G8) Leu→ Gln, HBB: c.320 T>A] Associated With Congenital Methemoglobinemia in a Chinese Family.Journal of clinical laboratory analysis · 2026Article
- Decreased <italic>Lactococcus lactis</italic> and Propionic Acid in Feces of Patients with Moyamoya Disease: Possible Implications of Immune Dysregulation.Cerebrovascular diseases (Basel, Switzerland) · 2026Article
- Non-Atherosclerotic and Genetic Intracranial Stenoses: Diagnostic Challenges and Emerging Genetic Insights.Journal of neuroendovascular therapy · 2026Review
- Moyamoya disease in Latin America: A systematic literature review with an illustrative case.Surgical neurology international · 2026Article
- Reframing moyamoya vasculopathy within steno-occlusive disease of the circle of Willis.Frontiers in stroke · 2026Review
- 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
- RNF213 regulates blood‒brain barrier integrity by targeting TRAF3 for type I interferon activation during A. baumannii infection.PLoS pathogens · 2025Article
- RNF213 Acts as a Molecular Switch for Cav-1 Ubiquitination and Phosphorylation in Human Cells.Cells · 2025Article
- Impact ofJournal of clinical neurology (Seoul, Korea) · 2025Article
- Beyond the "string of beads": case-based exploration of diagnostic pitfalls and solutions in reversible cerebral vasoconstriction syndrome.The journal of headache and pain · 2025Review
- The role of the RING finger protein 213 gene in Moyamoya disease.Fluids and barriers of the CNS · 2025Review
- The Role of Immune Cells in Moyamoya Disease.Brain sciences · 2025Review
6 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
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive stenosis of large intracranial arteries and a hazy network of basal collaterals called moyamoya vessels. A polymorphism (R4810K) in the Ring Finger Protein 213 (RNF213) gene, at chromosome 17q25.3, is the strongest genetic susceptibility factor for MMD in East Asian populations. MMD was regarded prevalent in childhood and in East Asian populations. However, the so-called MMD could represent only the tip of the iceberg. MMD is increasingly reported in adult patients and in Western populations. Moreover, the RNF213 variant was recently reported to be associated with non-MMD disorders, such as intracranial atherosclerosis and systemic vasculopathy (e.g., peripheral pulmonary artery stenosis and renal artery stenosis). In this review, we summarize the spectrums of RNF213 vasculopathy in terms of clinical and genetic phenotypes. Continuous efforts are required for pathophysiology-based diagnoses and treatment, which will benefit from collaboration between clinicians and researchers, and between stroke and vascular physicians.
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Registered trials
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.