{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T16:16:21Z","timestamp":1773332181807,"version":"3.50.1"},"reference-count":55,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2021,2,19]],"date-time":"2021-02-19T00:00:00Z","timestamp":1613692800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100006545","name":"National Institute on Minority Health and Health Disparities","doi-asserted-by":"publisher","award":["U54MD007600"],"award-info":[{"award-number":["U54MD007600"]}],"id":[{"id":"10.13039\/100006545","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["P20GM103475"],"award-info":[{"award-number":["P20GM103475"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["R25GM061838"],"award-info":[{"award-number":["R25GM061838"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJERPH"],"abstract":"<jats:p>Background: Setleis syndrome (SS) is a focal facial dermal dysplasia presenting with bilateral temporal skin lesions, eyelash abnormalities and absent meibomian glands. SS is a rare autosomal recessive disorder caused by mutations in the TWIST2 gene, which codes for a transcription factor of the bHLH family known to be involved in skin and facial development. Methods: We obtained gene expression profiles by microarray analyses from control and SS patient primary skin fibroblast and lymphoblastoid cell lines. Results: Out of 983 differentially regulated genes in fibroblasts (fold change \u2265 2.0), 479 were down-regulated and 509 were up-regulated, while in lymphoblasts, 1248 genes were down-regulated and 73 up-regulated. RT-PCR reactions confirmed altered expression of selected genes. Conclusions: TWIST2 is described as a repressor, but expression profiling suggests an important role in gene activation as well, as evidenced by the number of genes that are down-regulated, with a much higher proportion of down-regulated genes found in lymphoblastoid cells from an SS patient. As expected, both types of cell types showed dysregulation of cytokine genes. These results identify potential TWIST2 target genes in two important cell types relevant to rare disorders caused by mutations in this bHLH gene.<\/jats:p>","DOI":"10.3390\/ijerph18041997","type":"journal-article","created":{"date-parts":[[2021,2,19]],"date-time":"2021-02-19T03:14:41Z","timestamp":1613704481000},"page":"1997","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells"],"prefix":"10.3390","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1156-1228","authenticated-orcid":false,"given":"Noe E.","family":"Crespo","sequence":"first","affiliation":[{"name":"Department of Biochemistry, School of Medicine, University of Puerto Rico, Medical Sciences Campus, San Juan 00936, Puerto Rico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7646-1490","authenticated-orcid":false,"given":"Alexandra","family":"Torres-Bracero","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, School of Medicine, University of Puerto Rico, Medical Sciences Campus, San Juan 00936, Puerto Rico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessicca Y.","family":"Renta","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, School of Medicine, University of Puerto Rico, Medical Sciences Campus, San Juan 00936, Puerto Rico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert J.","family":"Desnick","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen L.","family":"Cadilla","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, School of Medicine, University of Puerto Rico, Medical Sciences Campus, San Juan 00936, Puerto Rico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,2,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1542\/peds.32.4.540","article-title":"Congenital ectodermal dysplasia of the face","volume":"32","author":"Setleis","year":"1963","journal-title":"Pediatrics"},{"key":"ref_2","first-page":"259","article-title":"Bitemporal Aplasia Cutis Congenita","volume":"8","year":"1989","journal-title":"Puerto Rico Health Sci. 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