{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T22:32:58Z","timestamp":1770330778704,"version":"3.49.0"},"reference-count":52,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T00:00:00Z","timestamp":1770076800000},"content-version":"vor","delay-in-days":520,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2024,8,22]],"date-time":"2024-08-22T00:00:00Z","timestamp":1724284800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"U.S. National Institutes of Health","doi-asserted-by":"crossref","award":["S10 OD032246"],"award-info":[{"award-number":["S10 OD032246"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Orthopedic Foundation for Animals Dr. E.A. Corley Endowment"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Human patients with Ehlers-Danlos syndrome (EDS) are categorized into subtypes based on causative genetic variants and phenotypes. The classical form of EDS, primarily caused by variants in COL5A1 or COL5A2, is a very common subtype in people but is poorly characterized in dogs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Describe likely causal COL5A1 variants in dogs with classical EDS, summarize clinical histories, discuss potential disease mechanisms, and draw conclusions about disease prognosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Animals<\/jats:title>\n                    <jats:p>Seven client-owned dogs that exhibited clinical signs of classical EDS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Clinical information was recorded from medical records and communication with attending veterinarians and dog owners. To identify potential causal gene sequence variants whole-genome sequence analyses (n\u2009=\u20096) or Sanger sequencing (n\u2009=\u20091) were performed on DNA isolated from the probands. Pathological abnormalities in skin biopsy samples were assessed using histology and electron microscopy in 3 dogs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Six distinct heterozygous COL5A1 sequence variants were identified. The most common clinical signs included fragile skin (n\u2009=\u20097), hyperextensible skin (n\u2009=\u20097), joint hypermobility (n\u2009=\u20096), and atrophic scars (n\u2009=\u20095). The median age at last follow-up or death was 12\u2009years (range, 6.5-14\u2009years). Ultrastructural abnormalities in dermal collagen differed among dogs with different COL5A1 variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion and Clinical Importance<\/jats:title>\n                    <jats:p>We describe the genotypic and phenotypic spectrum of the classical subtype of EDS by identifying 6 novel COL5A1 variants in conjunction with detailed clinical histories that included long-term follow-up information in 7 dogs.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jvim.17180","type":"journal-article","created":{"date-parts":[[2024,8,23]],"date-time":"2024-08-23T00:47:22Z","timestamp":1724374042000},"page":"2431-2443","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel\n                    <i>COL5A1<\/i>\n                    variants and associated disease phenotypes in dogs with classical Ehlers-Danlos syndrome"],"prefix":"10.1093","volume":"38","author":[{"given":"Garrett","family":"Bullock","sequence":"first","affiliation":[{"name":"College of Veterinary Medicine, University of Missouri Department of Veterinary Pathobiology, , Columbia, Missouri,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0270-4728","authenticated-orcid":false,"given":"Jared A.","family":"Jaffey","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, Midwestern University Department of Specialty Medicine, , Glendale, Arizona,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leah A.","family":"Cohn","sequence":"additional","affiliation":[{"name":"Veterinary Health Center, University of Missouri Department of Veterinary Medicine and Surgery, , Columbia, Missouri,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erika","family":"Sox","sequence":"additional","affiliation":[{"name":"Ethos Veterinary Emergency and Referral Center Department of Small Animal Internal Medicine, , Honolulu, Hawaii,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7651-4775","authenticated-orcid":false,"given":"Eric T.","family":"Hostnik","sequence":"additional","affiliation":[{"name":"Veterinary Medical Center, Ohio State University Department of Veterinary Clinical Sciences, , Columbus, Ohio,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyle D.","family":"Hutcheson","sequence":"additional","affiliation":[{"name":"Saguaro Veterinary Surgery , Tucson, Arizona,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erin","family":"Matero","sequence":"additional","affiliation":[{"name":"Matero Veterinary Services , Warren, Michigan,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen S.","family":"Hoffmann","sequence":"additional","affiliation":[{"name":"Olney-Sandy Spring Veterinary Hospital , Sandy Spring, Maryland,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary S.","family":"Johnson","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Missouri Department of Veterinary Pathobiology, , Columbia, Missouri,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin L.","family":"Katz","sequence":"additional","affiliation":[{"name":"Mason Eye Institute, University of Missouri , Columbia, 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