{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T10:02:37Z","timestamp":1776420157224,"version":"3.51.2"},"reference-count":36,"publisher":"The Company of Biologists","issue":"8","license":[{"start":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T00:00:00Z","timestamp":1776211200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.biologists.com\/user-licence-1-2\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["P30 AR066524"],"award-info":[{"award-number":["P30 AR066524"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["P30 CA014520"],"award-info":[{"award-number":["P30 CA014520"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100007015","name":"University of Wisconsin-Madison","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100007015","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100017785","name":"Pediatric Dermatology Research Alliance","doi-asserted-by":"crossref","award":["X01HL145695"],"award-info":[{"award-number":["X01HL145695"]}],"id":[{"id":"10.13039\/100017785","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,4,15]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Vascular anomalies are a group of congenital disorders characterized by structural abnormalities in the blood vessels. Over the past 20\u2005years, 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, GNAQ R183Q. We have generated a transgenic mouse line carrying GNAQ R183Q under the control of the tet-responsive elements. The transgene expression level is tunable and can be induced at physiologically relevant ranges. We have shown that endothelial expression of GNAQ R183Q is sufficient to drive blood vessel malformation in developing mouse embryos. We have further identified multiple transcriptional changes caused by GNAQ R183Q in the skin using RNA-seq. This work strengthens the causal link between GNA mutations and vascular anomalies, demonstrates that endothelial cell-specific expression of GNAQ R183Q is sufficient to cause vascular defects during development, and offers valuable insights into the mechanisms underlying GNA mutation-associated diseases.<\/jats:p>","DOI":"10.1242\/dev.204936","type":"journal-article","created":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T08:06:35Z","timestamp":1774253195000},"source":"Crossref","is-referenced-by-count":0,"title":["Hyperactive GNAQ in endothelial cells causes blood vessel malformation in developing mouse skin"],"prefix":"10.1242","volume":"153","author":[{"given":"Jenna","family":"Meyers","sequence":"first","affiliation":[{"name":"University of Wisconsin-Madison 1 Department of Dermatology , , Madison, WI 53705 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zach","family":"Tower","sequence":"additional","affiliation":[{"name":"University of Wisconsin-Madison 1 Department of Dermatology , , Madison, WI 53705 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olivia","family":"Leighton","sequence":"additional","affiliation":[{"name":"University of Wisconsin-Madison 1 Department of Dermatology , , Madison, WI 53705 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0844-7195","authenticated-orcid":false,"given":"Beth","family":"Drolet","sequence":"additional","affiliation":[{"name":"University of Wisconsin-Madison 1 Department of Dermatology , , Madison, WI 53705 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4208-9088","authenticated-orcid":false,"given":"Hao","family":"Chang","sequence":"additional","affiliation":[{"name":"University of Wisconsin-Madison 1 Department of Dermatology , , Madison, WI 53705 ,","place":["USA"]},{"name":"William S. Middleton VA Medical Center 2 , Madison, WI 53705 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"237","published-online":{"date-parts":[[2026,4,17]]},"reference":[{"key":"2026041705165914800_DEV204936C1","doi-asserted-by":"publisher","first-page":"455","DOI":"10.1016\/j.hoc.2019.01.011","article-title":"Vascular anomalies: diagnosis of complicated anomalies and new medical treatment options","volume":"33","author":"Adams","year":"2019","journal-title":"Hematol. Oncol. Clin. North Am."},{"key":"2026041705165914800_DEV204936C2","doi-asserted-by":"publisher","first-page":"789","DOI":"10.1016\/j.ajhg.2016.03.009","article-title":"Somatic activating mutations in GNAQ and GNA11 are associated with congenital hemangioma","volume":"98","author":"Ayturk","year":"2016","journal-title":"Am. J. Hum. 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