Associated Papers
Moyamoya Vasculopathy and Atypical Moyamoya-like Patterns: Insights into Diagnosis and Therapeutic Implications.
Calandrelli R et al.
Neurosci, 2026
Delineating the Genetic Basis of RNF213-related vasculopathies: The association of PKHD1 variants with bilateral cerebral vasculopathy.
Ishigami D et al.
European Journal of Human Genetics : Ejhg, 2026
Precision medicine in Moyamoya vasculopathy.
Patel R et al.
Current Opinion in Neurology, 2026
Significant Correlation Between White Matter Hyperintensity Volume and Rare NOTCH3 Variants in the General Japanese Population.
Mizuta I et al.
Geriatrics & Gerontology International, 2026
Identification and validation of CARS1 p.E712V and NF1 p.Q2002X in sporadic Moyamoya disease across 30 trio pedigrees.
Wang Y et al.
Npj Genomic Medicine, 2026
Familial Moyamoya disease associated with dual RNF213 variants (R4810K and T1727M): A case report and genetic investigation.
Sang B et al.
Medicine, 2026
Vasospastic Angina (Coronary Spastic Angina) in the Left Main Trunk in a Patient With RNF213 p.R4810K Variant and a History of Moyamoya Disease.
Kurokawa T et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2026
Molecular and multimodal biomarkers in Moyamoya disease: from pathogenic mechanisms to clinical translation.
Li J et al.
European Journal of Medical Research, 2026
RNF213 p.R4810K Variant and Intracranial Atherosclerosis: Increased Risk in Obese Variant Carriers.
Takashima M et al.
Journal of Stroke, 2026
RNF213 and cardiovascular disease: A review of histopathological, genetic perspectives, and potential molecular mechanisms.
Kawakami T et al.
Journal of Cardiology, 2026
Peripheral blood GATA2 expression impacts RNF213 mutation penetrance and clinical severity in moyamoya disease.
Mineharu Y et al.
Stroke and Vascular Neurology, 2025
Distinct impact of RNF213 p.R4810K genotype on transdural collateral formation across Japanese Asian and Polish Caucasian Moyamoya patients.
Szarek D et al.
Neurosurgical Review, 2025
Increased plasma fibronectin mirrors intimal phenotypic switching of vascular smooth muscle cells in moyamoya arteriopathy.
Asselman C et al.
Scientific Reports, 2025
Moyamoya Disease and the Risk of Parkinson's Disease.
Yoo D et al.
Annals of Clinical and Translational Neurology, 2025
Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.
Bereczky Z et al.
Genes, 2025
Systemic Vasculopathy Associated With Homozygous RNF213 Mutation Presenting as Peripheral Pulmonary Artery Stenosis and Coronary Vasospasm Without Moyamoya Disease: A Case Report.
Lim SM et al.
Journal of Korean Medical Science, 2025
Moyamoya disease: epidemiology, clinical features, pathogenesis, diagnosis and therapeutic interventions.
Cheng X et al.
Molecular Biomedicine, 2025
RNF213 c.14429G > A (p.Arg4810Lys) is associated with non-arteritic retinal artery occlusion.
Shimada D et al.
Scientific Reports, 2025
Genetic Variants in Recurrent Euploid Pregnancy Loss.
Aminbeidokhti M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Multisystemic Impact of RNF213 Arg4810Lys: A Comprehensive Review of Moyamoya Disease and Associated Vasculopathies.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2025
RNF213-Related Vasculopathy: An Entity with Diverse Phenotypic Expressions.
Yoshimoto T et al.
Genes, 2025
Islands and Neurology: An Exploration into a Unique Association.
Dhar D et al.
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2025
RNF213 Mutation Associated with the Progression from Middle Cerebral Artery Steno-Occlusive Disease to Moyamoya Disease.
Sasagasako T et al.
Translational Stroke Research, 2025
Genome-Wide DNA Methylation Profiling Reveals Low Methylation Variability in Moyamoya Disease.
Tokairin K et al.
Translational Stroke Research, 2025
RNF213 p.Arg4810Lys Variant Is Associated with Higher Stenosis Progression in Asymptomatic Intracranial Artery Stenosis.
Dofuku S et al.
Translational Stroke Research, 2025
Intracranial Large Artery Involvement in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A Tale of Two Genes?
Zedde M et al.
Genes, 2025
Role of RNF213 in Guiding Treatment of Moyamoya Disease with Unusual Phenotypic Presentation.
Roy J et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2025
Moyamoya disease presenting with transient nonfocal neurological attacks in an Indian woman carrying a previously unreported RNF213 missense variant (p.Thr554Ile).
Mondal R et al.
Neurogenetics, 2025
Immature Acta2R179C/+ smooth muscle cells cause moyamoya-like cerebrovascular lesions in mice prevented by boosting OXPHOS.
Kaw A et al.
Nature Communications, 2025
RNF213-Dependent EGFR and HER2 Activation Regulates Specific Downstream Signaling Pathways in Human Cancer Cells.
Fouad IM et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2025
Delayed Diagnosis of Vertebrobasilar Artery Stenosis Developed During Follow-Up of Two Patients With Pediatric-Onset Moyamoya Disease.
Kim B et al.
Cureus, 2025
Association between RNF213 p.R4810K and Progression of Cerebral Artery Negative Remodeling in Moyamoya Disease.
Uchino H et al.
Neurologia Medico-chirurgica, 2025
De novo variant in RING finger protein 213 causes systemic vasculopathy.
Kashimada A et al.
Jci Insight, 2025
Circulating T cell atlas in Moyamoya disease: insights into immunopathogenesis of cerebrovascular disorders.
Liu C et al.
Journal of Neuroinflammation, 2025
Association of Genetic Variants with Postoperative Donor Artery Development in Moyamoya Disease: RNF213 and Other Moyamoya Angiopathy-Related Gene Analysis.
Torazawa S et al.
Translational Stroke Research, 2025
Glymphatic Impairment Associated with Neurocognitive Dysfunction in Moyamoya Disease.
Zeng C et al.
Translational Stroke Research, 2025
Recent Advances in Genetics of Moyamoya Disease: Insights into the Different Pathogenic Pathways.
Han G et al.
International Journal of Molecular Sciences, 2025
RNF213 Acts as a Molecular Switch for Cav-1 Ubiquitination and Phosphorylation in Human Cells.
Choi J et al.
Cells, 2025