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Article

Endothelial Cells from Capillary Malformations Are Enriched for Somatic GNAQ Mutations.

Plastic and reconstructive surgery - 1 Jan 2016

Couto Javier A, Huang Lan, Vivero Matthew P, Kamitaki Nolan, Maclellan Reid A, Mulliken John B, Bischoff Joyce, Warman Matthew L, Greene Arin K

Abstract excerpt

BACKGROUND: A somatic mutation in GNAQ (c.548G>A; p.R183Q), encoding Gαq, has been found in syndromic and sporadic capillary malformation tissue. However, the specific cell type containing the mutation is unknown. The purpose of this study was to determine which cells in capillary malformations have the GNAQ mutation. METHODS: Human capillary malformation tissue was obtained from 13 patients during a clinically...

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Topics

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Share to Capillaries
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endothelial Cells

Share to Endothelium, Vascular

Share to Flow Cytometry

Share to GTP-Binding Protein alpha Subunits, Gi-Go

Share to Microscopy, Confocal

Share to Vascular Malformations

Source

Open in PubMed Open full text

Identifiers

PMID: 26368330
DOI: 10.1097/PRS.0000000000001868
PMCID: PMC5242181

Genes

GNAQ

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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