{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T14:10:17Z","timestamp":1787580617752,"version":"build-2736575974"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,9,15]],"date-time":"2015-09-15T00:00:00Z","timestamp":1442275200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Walloon Ministry of Agriculture"},{"name":"Belgian Science Policy Organisation"},{"DOI":"10.13039\/501100005627","name":"University of Li\u00e8ge","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100005627","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Four newborn purebred Belgian Blue calves presenting a severe form of epidermolysis bullosa were recently referred to our heredo\u2010surveillance platform. <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> array genotyping followed by autozygosity mapping located the causative gene in a 8.3\u2010Mb interval on bovine chromosome 24. Combining information from (i) whole\u2010genome sequencing of an affected calf, (ii) transcriptomic data from a panel of tissues and (iii) a list of functionally ranked positional candidates pinpointed a private <jats:italic>G<\/jats:italic> to <jats:italic>A<\/jats:italic> nucleotide substitution in the <jats:italic><jats:styled-content style=\"fixed-case\">LAMA<\/jats:styled-content>3<\/jats:italic> gene that creates a premature stop codon (p.Arg2609*) in exon 60, truncating 22% of the corresponding protein. The <jats:italic><jats:styled-content style=\"fixed-case\">LAMA<\/jats:styled-content>3<\/jats:italic> gene encodes the alpha 3 subunit of the heterotrimeric laminin\u2010332, a key constituent of the lamina lucida that is part of the skin basement membrane connecting epidermis and dermis layers. Homozygous loss\u2010of\u2010function mutations in this gene are known to cause severe junctional epidermolysis bullosa in human, mice, horse, sheep and dog. Overall, our data strongly support the causality of the identified gene and mutation.<\/jats:p>","DOI":"10.1111\/age.12342","type":"journal-article","created":{"date-parts":[[2015,9,15]],"date-time":"2015-09-15T08:36:47Z","timestamp":1442306207000},"page":"566-570","source":"Crossref","is-referenced-by-count":15,"title":["A stop\u2010gain in the <i>laminin, alpha 3<\/i> gene causes recessive junctional epidermolysis bullosa in Belgian Blue cattle"],"prefix":"10.1111","volume":"46","author":[{"given":"Arnaud","family":"Sartelet","sequence":"first","affiliation":[{"name":"Bovine Clinic FARAH and Faculty of Veterinary Medicine University of Li\u00e8ge Li\u00e8ge Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6268-0107","authenticated-orcid":false,"given":"Chad","family":"Harland","sequence":"additional","affiliation":[{"name":"Unit of Animal Genomics GIGA\u2010R and Faculty of Veterinary Medicine University of Li\u00e8ge Li\u00e8ge 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