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Article

An endothelial specific mouse model for the capillary malformation mutation Gnaq p.R183Q.

Angiogenesis - 11 Jun 2025

Smits Patrick, Marrs Leanna, Cheng Yu Sheng, Ad Michal, Nasim Sana, Zurakowski David, Bischoff Joyce, Greene Arin K

Abstract excerpt

Capillary malformation (CM) is a congenital, non-hereditary lesion composed of enlarged and tortuous blood vessels. CM is associated with a somatic p.R183Q activating mutation in the Guanine nucleotide-binding protein G(q) subunit alpha (GNAQ) gene in endothelial cells (EC). Cutaneous CMs are present in 1/300 infants and in 55-70% of CM cases soft tissue overgrowth is observed. Pharmacotherapy for CM does not...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endothelial Cells

Share to GTP-Binding Protein alpha Subunits, Gq-G11

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Share to Vascular Malformations

Source

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Identifiers

PMID: 40498353
DOI: 10.1007/s10456-025-09986-4
PMCID: PMC12863421

Genes

GNAQ
ANGPT2
ESM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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