ReviewTranslational stroke research2022
The Genetic Basis of Moyamoya Disease.
Review in Translational stroke research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers, 3 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
85 citing papers in PubMed, 3 syntheses or guidelines pooled it, 127 citations in OpenAlex.
- Differentially Expressed Genes and Biological Pathways in Moyamoya Disease: A Systematic Review and Meta-analysis of Transcriptomic Studies.Translational stroke research · 2025Pooled it
- Efficacy of double anastomosis STA-MCA bypass in adult Moyamoya disease and cerebral atherosclerosis disease: a systematic review and meta-analysis.Neurosurgical review · 2025Pooled it
- Moyamoya disease in Southeast Asians: genetic and autopsy data, new cases, systematic review, and meta-analysis of all patients from the literature.Journal of neurology · 2024Pooled it
- Safety analysis of STA-MCA bypass combined with EDAS in the treatment of patients with moyamoya disease.Medicine · 2025Trial
- RNF213 in Panvascular Disease: A Molecular Hub Linking Genetic Susceptibility to Systemic Vasculopathy.Biomedicines · 2026Review
- ALIGNED Network for rare cerebrovascular diseases: methodology and preliminary results.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Delineating the Genetic Basis of RNF213-related vasculopathies: The association of PKHD1 variants with bilateral cerebral vasculopathy.European journal of human genetics : EJHG · 2026Article
- An Overview of Genetics of Moyamoya: BeyondInternational journal of molecular sciences · 2026Review
- Predisposing Factors, Pathologies, and Precipitating Factors Causing Intracerebral Hemorrhage.Stroke · 2026Review
- Whole-Exome Sequencing Improves Risk Assessments of Adult Moyamoya Disease.Journal of clinical neurology (Seoul, Korea) · 2026Article
- Patient perspective on large-language model responses to questions about Moyamoya.Acta neurochirurgica · 2026Article
- Single-cell transcriptomic profiling of peripheral blood mononuclear cells reveals monocyte heterogeneity in patients with Moyamoya disease.Orphanet journal of rare diseases · 2026Article
- Organoid Modeling and Single-Cell Profiling Reveal Smooth Muscle Cell Migration in Moyamoya Disease.Communications biology · 2026Article
- Molecular and multimodal biomarkers in Moyamoya disease: from pathogenic mechanisms to clinical translation.European journal of medical research · 2026Review
- LPIN3 emerges as a diagnostic biomarker in Moyamoya disease revealing immune-lipid metabolic crosstalk.Frontiers in genetics · 2026Article
- Moyamoya Disease: Pathophysiology, Diagnosis, and Treatment.Deutsches Arzteblatt international · 2025Review
- Increased plasma fibronectin mirrors intimal phenotypic switching of vascular smooth muscle cells in moyamoya arteriopathy.Scientific reports · 2025Article
- Multi-omics research on moyamoya disease: current perspectives and future directions.Nutrition & metabolism · 2025Review
- The role of systemic inflammation in the formation and rupture of intracranial aneurysms in moyamoya disease: a retrospective cohort study.Annals of medicine · 2025Article
- MicroRNA-29b-3p promotes endothelial cell inflammation via NTRK2/PI3K/NLRP3 pathway in Moyamoya disease.European journal of medical research · 2025Article
25 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
8 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive spontaneous bilateral occlusion of the intracranial internal cerebral arteries (ICA) and their major branches with compensatory capillary collaterals resembling a "puff of smoke" (Japanese: Moyamoya) on cerebral angiography. These pathological alterations of the vessels are called Moyamoya arteriopathy or vasculopathy and a further distinction is made between primary and secondary MMD. Clinical presentation depends on age and population, with hemorrhage and ischemic infarcts in particular leading to severe neurological dysfunction or even death. Although the diagnostic suspicion can be posed by MRA or CTA, cerebral angiography is mandatory for diagnostic confirmation. Since no therapy to limit the stenotic lesions or the development of a collateral network is available, the only treatment established so far is surgical revascularization. The pathophysiology still remains unknown. Due to the early age of onset, familial cases and the variable incidence rate between different ethnic groups, the focus was put on genetic aspects early on. Several genetic risk loci as well as individual risk genes have been reported; however, few of them could be replicated in independent series. Linkage studies revealed linkage to the 17q25 locus. Multiple studies on the association of SNPs and MMD have been conducted, mainly focussing on the endothelium, smooth muscle cells, cytokines and growth factors. A variant of the RNF213 gene was shown to be strongly associated with MMD with a founder effect in the East Asian population. Although it is unknown how mutations in the RNF213 gene, encoding for a ubiquitously expressed 591 kDa cytosolic protein, lead to clinical features of MMD, RNF213 has been confirmed as a susceptibility gene in several studies with a gene dosage-dependent clinical phenotype, allowing preventive screening and possibly the development of new therapeutic approaches. This review focuses on the genetic basis of primary MMD only.
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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.