{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,11]],"date-time":"2026-11-11T05:19:52Z","timestamp":1794374392420,"version":"4.9.0"},"reference-count":32,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,4,10]],"date-time":"2023-04-10T00:00:00Z","timestamp":1681084800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2023,4,10]],"date-time":"2023-04-10T00:00:00Z","timestamp":1681084800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Veterinary Record"],"published-print":{"date-parts":[[2023,8,19]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n Bedlington terrier copper toxicosis (CT) is due to a homozygous exon deletion in\n COMMD1<\/jats:italic>\n . CT also occurs in Bedlingtons lacking this deletion. An association with two\n ABCA12<\/jats:italic>\n single nuceotide polymorphism (SNP) splice variants was reported. Labrador retriever CT is associated with a missense mutation in\n ATP7B<\/jats:italic>\n , and with a protective mutation in\n ATP7A<\/jats:italic>\n .\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Liver and DNA samples from 24 affected and 10 unaffected Bedlingtons were assessed for copper and genetic variants. Allelic frequencies were compared. The\n ATP7B<\/jats:italic>\n mutation frequency was investigated in 144 dogs of other breeds.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n The\n ABCA12<\/jats:italic>\n SNPs showed no differences between groups. The\n COMMD1<\/jats:italic>\n deletion was less frequent in unaffected than in affected dogs and in affected dogs post\u20102001 than pre\u20102001. The\n ATP7B<\/jats:italic>\n mutation was more frequent in affected than unaffected Bedlingtons. Thirty\u2010five of 144 dogs of other breeds were homo\u2010 or heterozygous for the\n ATP7B<\/jats:italic>\n mutation. The\n ATP7A<\/jats:italic>\n mutation was absent from Bedlingtons.\n <\/jats:p>\n <\/jats:sec>\n \n Limitations<\/jats:title>\n Clinical information and qualitative copper measurements were unavailable for most dogs.<\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n The\n COMMD1<\/jats:italic>\n deletion remains present in Bedlington terriers but is no longer the primary cause of CT.\n ABCA12<\/jats:italic>\n SNPs were not associated with CT. The\n ATP7B:c.4358G>A<\/jats:italic>\n mutation was significantly associated with Bedlington CT and was more common in dogs of this breed than in the 144 dogs of other breeds.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/vetr.2832","type":"journal-article","created":{"date-parts":[[2023,4,11]],"date-time":"2023-04-11T02:02:05Z","timestamp":1681178525000},"source":"Crossref","is-referenced-by-count":5,"title":["Copper toxicosis in Bedlington terriers is associated with multiple independent genetic variants"],"prefix":"10.1002","volume":"193","author":[{"given":"Susan","family":"Haywood","sequence":"first","affiliation":[{"name":"School of Veterinary Science University of Liverpool Liverpool UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"June","family":"Swinburne","sequence":"additional","affiliation":[{"name":"Animal DNA Diagnostics Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0648-1418","authenticated-orcid":false,"given":"Ellen","family":"Schofield","sequence":"additional","affiliation":[{"name":"Kennel Club Genetics Centre Department of Veterinary Medicine University of Cambridge Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Constantino\u2010Casas","sequence":"additional","affiliation":[{"name":"Queen's Veterinary School Hospital Department of Veterinary Medicine University of Cambridge Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7241-9412","authenticated-orcid":false,"given":"Penny","family":"Watson","sequence":"additional","affiliation":[{"name":"Queen's Veterinary School Hospital Department of Veterinary Medicine University of Cambridge Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,4,10]]},"reference":[{"key":"e_1_2_11_2_1","first-page":"13","article-title":"Chronic progressive hepatitis in Bedlington terriers associated with elevated copper concentrations","volume":"15","author":"Hardy RM","year":"1975","journal-title":"Minn Vet"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1751-0813.1983.tb05971.x"},{"issue":"23","key":"e_1_2_11_4_1","first-page":"916","article-title":"Koperstapeling in de lever, een erfelijk probleem bij de Bedlington terrier","volume":"108","author":"Meulenaar H","year":"1983","journal-title":"Tijdschr Diergeneeskd"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/BF03546743"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1748-5827.1984.tb03392.x"},{"issue":"3","key":"e_1_2_11_7_1","doi-asserted-by":"crossref","first-page":"269","DOI":"10.2460\/javma.1979.175.03.269","article-title":"Clinical, morphologic, and chemical studies on copper toxicosis of Bedlington terriers","volume":"175","author":"Twedt DC","year":"1979","journal-title":"J Am Vet Med Assoc"},{"issue":"11","key":"e_1_2_11_8_1","doi-asserted-by":"crossref","first-page":"1865","DOI":"10.2460\/ajvr.1980.41.11.1865","article-title":"Inheritance of copper toxicosis in Bedlington terriers","volume":"41","author":"Johnson G","year":"1980","journal-title":"Am J Vet Res"},{"issue":"3","key":"e_1_2_11_9_1","first-page":"G226","article-title":"A comparison of copper\u2010loading disease in Bedlington terriers and Wilson's disease in humans","volume":"243","author":"Su LC","year":"1982","journal-title":"Am J Physiol"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinre.2018.03.007"},{"issue":"1","key":"e_1_2_11_11_1","doi-asserted-by":"crossref","first-page":"23","DOI":"10.2460\/ajvr.1997.58.01.23","article-title":"Linkage of a microsatellite marker to the canine copper toxicosis locus in Bedlington terriers","volume":"58","author":"Yuzbasiyan\u2010Gurkan V","year":"1997","journal-title":"Am J Vet Res"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/vr.142.14.351"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2052.2005.01360.x"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.2.165"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1748-5827.2001.tb01799.x"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-002-2255-3"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.4142\/jvs.2004.5.1.19"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtemb.2016.01.015"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1939-1676.2006.tb01798.x"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1939-1676.2007.tb02925.x"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1354\/vp.08-VP-0197-S-FL"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.020263"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tvjl.2007.04.012"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.2460\/javma.242.3.372"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.2460\/javma.258.4.357"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/gigascience\/giaa027"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"issue":"1","key":"e_1_2_11_28_1","article-title":"From FastQ data to high\u2010confidence variant calls: the genome analysis toolkit best practices pipeline","volume":"43","author":"Auwera GA","year":"2013","journal-title":"Curr Protoc Bioinform"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/nyas.12442"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.3.501"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/jvim.15536"},{"key":"e_1_2_11_32_1","unstructured":"NivyR KuziS GajanayakeI BerkowitzA WatsonP.Copper\u2010associated chronic hepatitis in Cavalier King Charles Spaniels. In:Research Communications of the 32nd ECVIM\u2010CA Congress [Internet]. Swedish Exhibition and Congress Centre G\u00f6teborg Sweden. Sep 2022. Available from:https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jvim.16559"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.302216"}],"container-title":["Veterinary Record"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/bvajournals.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/vetr.2832","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/bvajournals.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/vetr.2832","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/bvajournals.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/vetr.2832","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,11,10]],"date-time":"2026-11-10T16:03:15Z","timestamp":1794326595000},"score":1,"resource":{"primary":{"URL":"https:\/\/bvajournals.onlinelibrary.wiley.com\/doi\/10.1002\/vetr.2832"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,10]]},"references-count":32,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,8,19]]}},"alternative-id":["10.1002\/vetr.2832"],"URL":"https:\/\/doi.org\/10.1002\/vetr.2832","archive":["Portico"],"relation":{},"ISSN":["0042-4900","2042-7670"],"issn-type":[{"value":"0042-4900","type":"print"},{"value":"2042-7670","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4,10]]},"article-number":"e2832"}}