ArticlePulmonary circulation
Rare variants in RNF213, a susceptibility gene for moyamoya disease, are found in patients with pulmonary hypertension and aggravate hypoxia-induced pulmonary hypertension in mice.
Article in Pulmonary circulation. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- Pooled it
- RNF213 in Panvascular Disease: A Molecular Hub Linking Genetic Susceptibility to Systemic Vasculopathy.Biomedicines · 2026Review
- Polysomnographic Characteristics and Sleep Disorders in Pediatric Moyamoya Arteriopathy.Nature and science of sleep · 2026Article
- Peripheral bloodStroke and vascular neurology · 2025Article
- Multisystemic Impact of RNF213 Arg4810Lys: A Comprehensive Review of Moyamoya Disease and Associated Vasculopathies.International journal of molecular sciences · 2025Review
- Review
- RNF213-Dependent EGFR and HER2 Activation Regulates Specific Downstream Signaling Pathways in Human Cancer Cells.Genes to cells : devoted to molecular & cellular mechanisms · 2025Article
- De novo variant in RING finger protein 213 causes systemic vasculopathy.JCI insight · 2025Article
- RNF213 Acts as a Molecular Switch for Cav-1 Ubiquitination and Phosphorylation in Human Cells.Cells · 2025Article
- Recent Advances in Stroke Genetics-Unraveling the Complexity of Cerebral Infarction: A Brief Review.Genes · 2025Review
- ExploringBiomedicines · 2024Review
- CXCL12/CXCR4 pathway as a novel therapeutic target for RNF213-associated pulmonary arterial hypertension.Scientific reports · 2024Article
- RNF213 p.Arg4810Lys Wild Type is Associated with De Novo Hemorrhage in Asymptomatic Hemispheres with Moyamoya Disease.Translational stroke research · 2024Article
- Yield of genetic evaluation in non-syndromic pediatric moyamoya patients.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Article
- Investigation and management of pediatric moyamoya arteriopathy in the era of genotype-phenotype correlation studies.European journal of human genetics : EJHG · 2023Article
- Two cases of pulmonary arterial hypertension with specific vascular Мalformations and unique eosinophilic inflammation in carriers of theRespiratory medicine case reports · 2023Article
- Article
- Article
- Experimental Animal Models for Moyamoya Disease: A Species-Oriented Scoping Review.Frontiers in surgery · 2022Article
- Caveolin-1 Promoted Collateral Vessel Formation in Patients With Moyamoya Disease.Frontiers in neurology · 2022Article
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ring finger 213 ( RNF213) is a susceptibility gene for moyamoya disease (MMD), a progressive cerebrovascular disease. Recent studies suggest that RNF213 plays an important role not only in MMD, but also in extracranial vascular diseases, such as pulmonary hypertension (PH). In this study, we undertook genetic screening of RNF213 in patients with PH and performed functional analysis of an RNF213 variant using mouse models. Direct sequencing of the exons in the C-terminal region of RNF213, where MMD-associated mutations are highly clustered, and of the entire coding exons of BMPR2 and CAV1, the causative genes for PH, was performed in 27 Japanese patients with PH. Two MMD-associated rare variants (p.R4810K and p.A4399T) in RNF213 were identified in two patients, three BMPR2 mutations (p.Q92H, p.L198Rfs*4, and p.S930X) were found in three patients, whereas no CAV1 mutations were identified. To test the effect of the RNF213 variants on PH, vascular endothelial cell (EC)-specific Rnf213 mutant transgenic mice were exposed to hypoxia. Overexpression of the EC-specific Rnf213 mutant, but neither Rnf213 ablation nor EC-specific wild-type Rnf213 overexpression, aggravated the hypoxia-induced PH phenotype (high right ventricular pressure, right ventricular hypertrophy, and muscularization of pulmonary vessels). Under hypoxia, electron microscopy showed unique EC detachment in pulmonary vessels, and western blots demonstrated a significant reduction in caveolin-1 (encoded by CAV1), a key molecule involved in EC functions, in lungs of EC-specific Rnf213 mutant transgenic mice, suggestive of EC dysfunction. RNF213 appears to be a genetic risk factor for PH and could play a role in systemic vasculopathy.
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