{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T00:34:05Z","timestamp":1768350845925,"version":"3.49.0"},"reference-count":23,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,8,8]],"date-time":"2024-08-08T00:00:00Z","timestamp":1723075200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Veterinary Dermatology"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Autosomal recessive ichthyosis leads to structural or biochemical changes that impair skin barrier function.<\/jats:p><\/jats:sec><jats:sec><jats:title>Hypothesis\/Objectives<\/jats:title><jats:p>To assess (1) the phenotype and genotype in a litter of Jack Russell Terriers with autosomal recessive congenital ichthyosis (ARCI), and (2) the defective skin barrier and determine if a topical ceramide can modulate the barrier.<\/jats:p><\/jats:sec><jats:sec><jats:title>Animals<\/jats:title><jats:p>A healthy dam and litter of Jack Russell Terrier puppies (healthy male, affected male and female), one affected adult Jack Russell Terrier and one unrelated healthy Jack Russell Terrier.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>A severe cornification defect was identified via examination of affected puppies. As the phenotype worsened, the affected puppies received a topical application of \u03c9\u20100\u2010acylceramide for 10\u2009days. Before humane euthanasia, the skin barrier was evaluated via transepidermal water loss (TEWL), corneometry and pH in affected dogs. Genomic testing was performed, and skin samples were analysed by light and electron microscopy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Affected puppies were homozygous for the 1980\u2009bp LINE\u20101 insertion in the <jats:italic>TGM1 (transglutaminase 1)<\/jats:italic> gene; the unaffected littermate and the dam were heterozygous carriers. ARCI puppies were underweight and had a severe hyperkeratotic phenotype that impaired mobility. TEWL was markedly higher in affected dogs. The cutaneous pH of affected puppies was higher than the normal littermate. Treatment of the skin with \u03c9\u20100\u2010acylceramide normalised the pH to match the littermate and decreased TEWL. Electron microscopy revealed marked attenuation of the cornified envelope.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions and Clinical Relevance<\/jats:title><jats:p>Dogs with TGM1\u2010deficient ARCI have an impaired skin barrier. Topical therapy can partially repair the barrier defect.<\/jats:p><\/jats:sec>","DOI":"10.1111\/vde.13285","type":"journal-article","created":{"date-parts":[[2024,8,9]],"date-time":"2024-08-09T03:59:35Z","timestamp":1723175975000},"page":"617-625","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in <scp>TGM1<\/scp>\u2010deficient Jack Russell Terriers and response to topical ceramide"],"prefix":"10.1111","volume":"35","author":[{"given":"Elizabeth","family":"Mauldin","sequence":"first","affiliation":[{"name":"Department of Pathobiology, School of Veterinary Medicine University of Pennsylvania  Philadelphia Pennsylvania 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Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2714-2370","authenticated-orcid":false,"given":"Sarah","family":"Kiener","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty University of Bern  Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0553-4880","authenticated-orcid":false,"given":"Tosso","family":"Leeb","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty University of Bern  Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter M.","family":"Elias","sequence":"additional","affiliation":[{"name":"Veterans Affairs Medical Center University of California  San Francisco California 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