{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T17:18:46Z","timestamp":1792603126898,"version":"4.5.0"},"reference-count":130,"publisher":"American Society for Clinical Investigation","issue":"8","license":[{"start":{"date-parts":[[2024,4,15]],"date-time":"2024-04-15T00:00:00Z","timestamp":1713139200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,4,15]]},"abstract":"<jats:p>\n                    Capillary malformation (CM), or port wine birthmark, is a cutaneous congenital vascular anomaly that occurs in 0.1%\u20132% of newborns. Patients with a CM localized on the forehead have an increased risk of developing a neurocutaneous disorder called encephalotrigeminal angiomatosis or Sturge-Weber syndrome (SWS), with complications including seizure, developmental delay, glaucoma, and vision loss. In 2013, a groundbreaking study revealed causative activating somatic mutations in the gene (\n                    <jats:italic>GNAQ<\/jats:italic>\n                    ) encoding guanine nucleotide\u2013binding protein Q subunit \u03b1 (G\u03b1q) in CM and SWS patient tissues. In this Review, we discuss the disease phenotype, the causative\n                    <jats:italic>GNAQ<\/jats:italic>\n                    mutations, and their cellular origin. We also present the endothelial G\u03b1q-related signaling pathways, the current animal models to study CM and its complications, and future options for therapeutic treatment. Further work remains to fully elucidate the cellular and molecular mechanisms underlying the formation and maintenance of the abnormal vessels.\n                  <\/jats:p>","DOI":"10.1172\/jci172842","type":"journal-article","created":{"date-parts":[[2024,4,14]],"date-time":"2024-04-14T14:00:36Z","timestamp":1713103236000},"source":"Crossref","is-referenced-by-count":29,"title":["Capillary malformations"],"prefix":"10.1172","volume":"134","author":[{"given":"Adrienne M.","family":"Hammill","sequence":"first","affiliation":[{"name":"Division of Hematology, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio, USA."},{"name":"Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Boscolo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA."},{"name":"Division 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