Article
Calcineurin-NFAT-DSCR1.4 signaling as druggable axis in Gαq-R183Q-driven capillary malformations.
Angiogenesis - 4 Feb 2026
Xu Tong, Janssen Vera, Reinhard Nathalie R, Sobrevals-Alcaraz Paula, van Es Robert M, de Haan Annett, de Swart Julian, Wehrens Martijn, de Kraker Hannah, Wolkerstorfer Albert, van der Horst Chantal M A M, Vos Harmjan R, Huveneers Stephan
Abstract excerpt
Capillary malformations (CMs) are congenital vascular lesions caused by somatic mutations in the GNAQ gene, most frequently resulting in a p.R183Q substitution in the Gαq protein in endothelial cells. However, the downstream signaling pathways by which Gαq-R183Q impairs vascular function remain poorly defined. To address this, we generated human dermal endothelial cells lacking endogenous Gαq and expressing the...
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