{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T14:10:24Z","timestamp":1787580624282,"version":"build-2736575974"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,7,12]],"date-time":"2021-07-12T00:00:00Z","timestamp":1626048000000},"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":["Veterinary Dermatology"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Junctional epidermolysis bullosa (JEB) is a group of congenital blistering skin diseases characterized by clefting through the lamina lucida of the basement membrane zone.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To characterize the clinical and morphological features of a congenital mechanobullous disease in a litter of puppies with severe upper respiratory involvement, and to identify an associated genetic variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Animals<\/jats:title><jats:p>Five of eight puppies in an Australian cattle dog cross\u2010bred litter showed signs of skin fragility. Three were stillborn and one died at one month of age. The two surviving puppies were presented with blistering skin disease and severe respiratory distress. Additionally, one unaffected sibling was examined and blood was obtained for genetic testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and materials<\/jats:title><jats:p>Post\u2010mortem examination, histopathological evaluation and electron microscopy were performed. Whole genome sequencing (WGS) of one affected puppy was compared to a database of 522 dogs of 55 different breeds for variant analysis. Sanger sequencing of one additional affected and one unaffected sibling confirmed the variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Clinically, severe mucocutaneous ulcers occurred in frictional areas with claw sloughing. Histopathological results revealed subepidermal clefts and electron microscopy confirmed the split in the lamina lucida. Post\u2010mortem examination documented extensive pharyngeal and laryngeal lesions with granulation tissue and fibrinous exudate obscuring the airway. Moderate tracheal hypoplasia contributed. The WGS revealed a novel missense variant in the laminin \u03b13\u2010chain XP_537297.2p(Asp2867Val), with an autosomal recessive mode of inheritance.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions and clinical relevance<\/jats:title><jats:p>A novel variant in LAMA3 caused a generalized and severe phenotype of JEB with an unique clinical presentation of upper airway obstruction.<\/jats:p><\/jats:sec>","DOI":"10.1111\/vde.12972","type":"journal-article","created":{"date-parts":[[2021,7,12]],"date-time":"2021-07-12T08:36:52Z","timestamp":1626079012000},"page":"379","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Canine junctional epidermolysis bullosa due to a novel mutation in <i>LAMA3<\/i> with severe upper respiratory involvement"],"prefix":"10.1111","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2772-9144","authenticated-orcid":false,"given":"Ina","family":"Herrmann","sequence":"first","affiliation":[{"name":"Departments of Department of Clinical Sciences College of Veterinary Medicine NC State University Raleigh NC 27607 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2970-2992","authenticated-orcid":false,"given":"Keith E.","family":"Linder","sequence":"additional","affiliation":[{"name":"Department of Population Health and Pathobiology College of Veterinary Medicine NC State University  Raleigh NC 27607 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7707-3799","authenticated-orcid":false,"given":"Kathryn M.","family":"Meurs","sequence":"additional","affiliation":[{"name":"Departments of Department of Clinical Sciences College of Veterinary Medicine NC State University Raleigh NC 27607 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7510-2322","authenticated-orcid":false,"given":"Steven G.","family":"Friedenberg","sequence":"additional","affiliation":[{"name":"Department of Veterinary Clinical Sciences College of Veterinary Medicine University of Minnesota  Saint Paul MN 55108 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonah","family":"Cullen","sequence":"additional","affiliation":[{"name":"Department of Veterinary Clinical Sciences College of Veterinary Medicine University of Minnesota  Saint Paul MN 55108 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1349-3484","authenticated-orcid":false,"given":"Natasha","family":"Olby","sequence":"additional","affiliation":[{"name":"Departments of Department of Clinical Sciences College of Veterinary Medicine NC State University Raleigh NC 27607 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8629-0528","authenticated-orcid":false,"given":"Petra","family":"Bizikova","sequence":"additional","affiliation":[{"name":"Departments of Department of Clinical Sciences College of Veterinary Medicine NC State University Raleigh NC 27607 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,7,12]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-020-0210-0"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.12834"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11091055"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2014.01.903"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2004.23584.x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg234"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M609402200"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.4161\/cam.23132"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.ctm.2015.07.002"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1089\/wound.2014.0533"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-04525-w"}],"container-title":["Veterinary Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/vde.12972","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/vde.12972","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/vde.12972","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T12:49:45Z","timestamp":1693313385000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/vde.12972"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,12]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1111\/vde.12972"],"URL":"https:\/\/doi.org\/10.1111\/vde.12972","archive":["Portico"],"relation":{},"ISSN":["0959-4493","1365-3164"],"issn-type":[{"value":"0959-4493","type":"print"},{"value":"1365-3164","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,12]]},"assertion":[{"value":"2021-01-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-12","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}