GNAQ p.R183Q drives capillary malformation (Homo sapiens)

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"Gαq-R183Q, when expressed in ECs [endothelial cells], establishes constitutively active PLCB3 signaling that leads to increased ANGPT2 and a pro-angiogenic, pro-inflammatory phenotype. EC-R183Q are sufficient to form enlarged [capillary malformation, CM]-like vessels in mice, and suppression of ANGPT2 prevents the enlargement. Our study provides the first evidence that endothelial Gαq-R183Q is causative for CM and identifies ANGPT2 as a contributor to CM vascular phenotype." Derived from https://pmc.ncbi.nlm.nih.gov/articles/PMC8702487/.