Article

Phosphoproteomics Maps Calcineurin-NFAT-DSCR1.4 Signaling as Druggable Axis in Gαq-R183Q–Driven Capillary Malformations

2025-06-09

Abstract excerpt

Vascular malformations are congenital lesions caused by somatic and germline mutations that disrupt developmental signaling pathways. Capillary malformations (CMs) typically present as port-wine stains in the skin and can also affect ocular and cerebral tissues in Sturge Weber Syndrome (SWS), leading to aesthetic, ophthalmic, and neurological complications. CMs are caused by a somatic mutation in the GNAQ gene in...

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Literature Corpus work: 3e91991d-6c45-5b64-a859-1426cd100462
DOI: 10.1101/2025.06.07.658432

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