Hyperactive GNAQ in endothelial cells causes blood vessel malformation in developing mouse skin.

Abstract excerpt

Vascular anomalies are a group of congenital disorders characterized by structural abnormalities in the blood vessels. Over the past 20 years, genetic investigations have identified mosaic mutations in multiple genes in individuals with vascular anomalies, including G protein alpha subunit q/11-encoding genes GNAQ/GNA11. Here, we report a tunable and reversible mouse tool for studying the frequent GNAQ mutant,...

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