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Article

Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels.

Arteriosclerosis, thrombosis, and vascular biology - 1 Jan 2022

Huang Lan, Bichsel Colette, Norris Alexis L, Thorpe Jeremy, Pevsner Jonathan, Alexandrescu Sanda, Pinto Anna, Zurakowski David, Kleiman Robin J, Sahin Mustafa, Greene Arin K, Bischoff Joyce

Abstract excerpt

OBJECTIVE: Capillary malformation (CM) occurs sporadically and is associated with Sturge-Weber syndrome. The somatic mosaic mutation in GNAQ (c.548G>A, p.R183Q) is enriched in endothelial cells (ECs) in skin CM and Sturge-Weber syndrome brain CM. Our goal was to investigate how the mutant Gαq (G-protein αq subunit) alters EC signaling and disrupts capillary morphogenesis. Approach and Results: We used lentiviral...

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Share to Angiopoietin-2
Share to Capillaries

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endothelial Progenitor Cells

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

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Source

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Identifiers

PMID: 34670408
DOI: 10.1161/ATVBAHA.121.316651
PMCID: PMC8702487

Genes

ANGPT2
GNAQ

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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