{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T04:22:05Z","timestamp":1780460525927,"version":"3.54.1"},"reference-count":3,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,11,1]],"date-time":"2021-11-01T00:00:00Z","timestamp":1635724800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>RAS\u2010related C3 Botulinum Toxin Substrate 1 (RAC1) is a Rho GTPase that modulates numerous cellular functions including transcriptional regulation and actin\u2010based structure turnover. Reported de novo <jats:italic>RAC1<\/jats:italic> mutations are rare but generally manifest in developmental delay and brain malformations. In <jats:italic>Rac1<\/jats:italic> knockout mice, a hairless phenotype has been observed, but little is known of other cutaneous phenotypes of <jats:italic>RAC1<\/jats:italic> mutations. In this report, we describe the first known case of a <jats:italic>RAC1<\/jats:italic> mutation with ichthyosiform changes.<\/jats:p>","DOI":"10.1111\/pde.14844","type":"journal-article","created":{"date-parts":[[2021,11,2]],"date-time":"2021-11-02T05:08:57Z","timestamp":1635829737000},"page":"1590-1591","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Ichthyosiform changes in a patient with <i>RAC1<\/i> mutation"],"prefix":"10.1111","volume":"38","author":[{"given":"Isabel Mary","family":"Haugh","sequence":"first","affiliation":[{"name":"Department of Dermatology University of Texas Southwestern Medical Center Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8420-9412","authenticated-orcid":false,"given":"Juliana L","family":"Pineider","sequence":"additional","affiliation":[{"name":"University of Texas Southwestern Medical School Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nnenna Gebechi","family":"Agim","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Texas Southwestern Medical Center Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,11]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01148"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1113579"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.08.007"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14844","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.14844","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14844","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T07:51:59Z","timestamp":1693209119000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.14844"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11]]},"references-count":3,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,11]]}},"alternative-id":["10.1111\/pde.14844"],"URL":"https:\/\/doi.org\/10.1111\/pde.14844","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11]]},"assertion":[{"value":"2021-11-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}