ArticleAngiogenesis2024
Similarities and differences between brain and skin GNAQ p.R183Q driven capillary malformations.
Article in Angiogenesis, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Acute Seizure Susceptibility and Chronic Vascular Malformation in a Developmental Mouse Model of Sturge-Weber Syndrome.International journal of molecular sciences · 2026Article
- Vascular Organoids Derived from Capillary malformation-induced Pluripotent Stem Cells Exhibit Disease-Relevant Phenotypes.Stem cell reviews and reports · 2026Article
- MAPK signaling and angiopoietin-2 contribute to endothelial permeability in capillary malformations.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- AIBP-LRP2-mediated HDL uptake restricts CXCR4Science advances · 2025Article
- Single-vessel transcriptome map pathological landscapes and reveal NR2F2-mediated smooth muscle cell phenotype acquisition in capillary malformations.bioRxiv : the preprint server for biology · 2025Article
- An endothelial specific mouse model for the capillary malformation mutation Gnaq p.R183Q.Angiogenesis · 2025Article
- The Triad of Blood-Brain Barrier Integrity: Endothelial Cells, Astrocytes, and Pericytes in Perinatal Stroke Pathophysiology.International journal of molecular sciences · 2025Review
- Progress in genetic mechanisms and precise treatment of neurocutaneous syndrome-related epilepsy.Frontiers in neurology · 2025Review
- GNAQ/GNA11-Related Benign and Malignant Entities-A Common Histoembriologic Origin or a Tissue-Dependent Coincidence.Cancers · 2024Review
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Authors and funding
6 authors.
Funding
Abstract
Capillary malformations (CM) are congenital vascular irregularities of capillary and venous blood vessels that appear in the skin, leptomeninges of the brain, and the choroid of the eye in the disorder known as Sturge Weber Syndrome (SWS). More common are non-syndromic CM found only in the skin, without brain or ocular involvement. A somatic activating mutation in GNAQ (p.R183Q) is found in ~ 90% of syndromic and non-syndromic CM specimens and is present in CD31
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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.