{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T00:30:20Z","timestamp":1769560220277,"version":"3.49.0"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,11,7]],"date-time":"2016-11-07T00:00:00Z","timestamp":1478476800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000016","name":"U.S. Department of Health and Human Services","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000016","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["RR02152"],"award-info":[{"award-number":["RR02152"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["P40 OD010939"],"award-info":[{"award-number":["P40 OD010939"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Veterinary Dermatology"],"published-print":{"date-parts":[[2017,2]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Plectin, a large linker protein found in many tissues, acts to connect components of the cytoskeleton to each other. In the epidermis, plectin binds keratin intermediate filaments to hemidesmosomes. A deficiency of plectin in the skin leads to blister formation in the basal layer and the disease epidermolysis bullosa simplex (<jats:styled-content style=\"fixed-case\">EBS<\/jats:styled-content>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Hypothesis\/Objectives<\/jats:title><jats:p>To describe a novel blistering disease that arose spontaneously in a litter of puppies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Animals<\/jats:title><jats:p>Two female and one male 20\u2010day\u2010old Eurasier puppies, from a litter of six, were presented for evaluation of failure to thrive and then euthanized due to poor prognosis. The puppies had ulcers on the lips, tongue, nasal planum, paw pads and abdomen.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Immunolabelling on frozen skin for basement membrane proteins revealed patchy and weak to absent staining for plectin as compared with strong linear staining in normal dogs. Ultrastructurally, hemidesmosomes were irregularly shaped and had loss of distinction between inner and outer plaques. Pedigree analysis supported an autosomal recessive mode of inheritance. A premature stop codon was discovered in exon 27 of <jats:italic><jats:styled-content style=\"fixed-case\">PLEC<\/jats:styled-content><\/jats:italic> that resulted in the production of a severely truncated protein.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The study describes the first documented spontaneous <jats:styled-content style=\"fixed-case\">EBS<\/jats:styled-content> associated with a <jats:italic><jats:styled-content style=\"fixed-case\">PLEC<\/jats:styled-content><\/jats:italic> variant in domestic animals.<\/jats:p><\/jats:sec>","DOI":"10.1111\/vde.12394","type":"journal-article","created":{"date-parts":[[2016,11,7]],"date-time":"2016-11-07T10:46:55Z","timestamp":1478515615000},"page":"10","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Epidermolysis bullosa simplex in sibling Eurasier dogs is caused by a <i><scp>PLEC<\/scp><\/i> non\u2010sense variant"],"prefix":"10.1111","volume":"28","author":[{"given":"Elizabeth A.","family":"Mauldin","sequence":"first","affiliation":[{"name":"Department of Pathobiology School of Veterinary Medicine University of Pennsylvania 3900 Delancey Street Philadelphia PA 19104 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pathobiology School of Veterinary Medicine University of Pennsylvania 3900 Delancey Street Philadelphia PA 19104 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1399-0034","authenticated-orcid":false,"given":"Thierry","family":"Olivry","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences College of Veterinary Medicine North Carolina State University, Raleigh 1052 William Moore Drive Raleigh NC 27606 USA"},{"name":"Comparative Medicine Institute North Carolina State University Raleigh NC 27695 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