{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T12:23:44Z","timestamp":1791894224706,"version":"4.3.4"},"reference-count":41,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2018,12,21]],"date-time":"2018-12-21T00:00:00Z","timestamp":1545350400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001862","name":"Svenska Forskningsr\u00e5det Formas","doi-asserted-by":"publisher","award":["K2013\u201057X\u201022309\u20103"],"award-info":[{"award-number":["K2013\u201057X\u201022309\u20103"]}],"id":[{"id":"10.13039\/501100001862","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005423","name":"Akademiska Sjukhuset","doi-asserted-by":"publisher","award":["AS19070"],"award-info":[{"award-number":["AS19070"]}],"id":[{"id":"10.13039\/501100005423","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2019,10]]},"abstract":"Abstract<\/jats:title>\n \n Autosomal recessive congenital ichthyosis (\n ARCI<\/jats:styled-content>\n ) is a group of monogenic skin disorders caused by mutations in any of at least 12 different genes, many of which are involved in the epidermal synthesis of \u03c9\u2010O\u2010acylceramides (acylCer). AcylCer are essential precursors of the corneocyte lipid envelope crosslinked by transglutaminase\u20101 (\n TG<\/jats:styled-content>\n m\u20101), or a yet unidentified enzyme, for normal skin barrier formation. We hypothesized that inactivating\n \n TGM<\/jats:styled-content>\n 1\n <\/jats:italic>\n mutations will lead to a compensatory overexpression of the transcripts involved in skin barrier repair, including many other\n ARCI<\/jats:styled-content>\n \u2010causing genes. Using microarray, we examined the global\n mRNA<\/jats:styled-content>\n expression profile in skin biopsies from five\n ARCI<\/jats:styled-content>\n patients with\n \n TGM<\/jats:styled-content>\n 1\n <\/jats:italic>\n mutations and four healthy controls. There were a total of 599 significantly differentially expressed genes (adjusted\n P<\/jats:italic>\n \u00a0<\u00a00.05), out of which 272 showed more than 1.5 log2fold\u2010change (\n FC<\/jats:styled-content>\n ) up\u2010 or down\u2010regulation. Functional classification of the latter group of transcripts showed enrichment of\n mRNA<\/jats:styled-content>\n encoding proteins mainly associated with biological pathways involved in keratinocyte differentiation and immune response. Moreover, the expression of seven out of twelve\n ARCI<\/jats:styled-content>\n \u2010causing genes was significantly increased (\n FC<\/jats:styled-content>\n \u00a0=\u00a00.98\u20102.05). Also, many of the genes involved in keratinocyte differentiation (cornified envelope formation) and immune response (antimicrobial peptides and proinflammatory cytokines) were upregulated. The results from the microarray analysis were also verified for selected genes at the\n mRNA<\/jats:styled-content>\n level by\n qPCR<\/jats:styled-content>\n and at the protein level by semi\u2010quantitative immunofluorescence. The upregulation of these genes might reflect a compensatory induction of acylCer biosynthesis as a part of a global barrier repair response in the patient\u2032s epidermis.\n <\/jats:p>","DOI":"10.1111\/exd.13813","type":"journal-article","created":{"date-parts":[[2018,10,29]],"date-time":"2018-10-29T17:04:50Z","timestamp":1540832690000},"page":"1164-1171","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Patients with congenital ichthyosis and\n \n TGM<\/scp>\n 1\n <\/i>\n mutations overexpress other\n ARCI<\/scp>\n genes in the skin: Part of a barrier repair response?"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9280-9832","authenticated-orcid":false,"given":"Hanqian","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Medical Sciences, Dermatology and Venereology Uppsala University Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Ericsson","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences, Dermatology and Venereology Uppsala University Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Westr\u00f6m","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences, Dermatology and Venereology Uppsala University Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anders","family":"Vahlquist","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences, Dermatology and Venereology Uppsala University Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Virtanen","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences, Dermatology and Venereology Uppsala University Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3617-8551","authenticated-orcid":false,"given":"Hans","family":"T\u00f6rm\u00e4","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences, Dermatology and Venereology Uppsala University Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,12,21]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40257-017-0313-x"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2009.346"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archdermatol.2012.1947"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-2418"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.13243"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.05.007"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.02.011"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.13284"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.011"},{"key":"e_1_2_9_11_1","first-page":"483","article-title":"Identification of point mutations in the steroid sulfatase gene of three patients with X\u2010linked ichthyosis","volume":"50","author":"Basler E.","year":"1992","journal-title":"Am. 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