{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:07:00Z","timestamp":1760148420635,"version":"build-2065373602"},"reference-count":65,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2023,4,27]],"date-time":"2023-04-27T00:00:00Z","timestamp":1682553600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"American Manchester Terrier Club","award":["T35OD011118","K01OD019912","UL1TR002494"],"award-info":[{"award-number":["T35OD011118","K01OD019912","UL1TR002494"]}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health (NIH)","doi-asserted-by":"publisher","award":["T35OD011118","K01OD019912","UL1TR002494"],"award-info":[{"award-number":["T35OD011118","K01OD019912","UL1TR002494"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health (NIH)","doi-asserted-by":"publisher","award":["T35OD011118","K01OD019912","UL1TR002494"],"award-info":[{"award-number":["T35OD011118","K01OD019912","UL1TR002494"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"NIH National Center for Advancing Translational Sciences","award":["T35OD011118","K01OD019912","UL1TR002494"],"award-info":[{"award-number":["T35OD011118","K01OD019912","UL1TR002494"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Sudden cardiac death in the young (SCDY) is a devastating event that often has an underlying genetic basis. Manchester Terrier dogs offer a naturally occurring model of SCDY, with sudden death of puppies as the manifestation of an inherited dilated cardiomyopathy (DCM). We performed a genome-wide association study for SCDY\/DCM in Manchester Terrier dogs and identified a susceptibility locus harboring the cardiac ATP-sensitive potassium channel gene ABCC9. Sanger sequencing revealed an ABCC9 p.R1186Q variant present in a homozygous state in all SCDY\/DCM-affected dogs (n = 26). None of the controls genotyped (n = 398) were homozygous for the variant, but 69 were heterozygous carriers, consistent with autosomal recessive inheritance with complete penetrance (p = 4 \u00d7 10\u221242 for the association of homozygosity for ABCC9 p.R1186Q with SCDY\/DCM). This variant exists at low frequency in human populations (rs776973456) with clinical significance previously deemed uncertain. The results of this study further the evidence that ABCC9 is a susceptibility gene for SCDY\/DCM and highlight the potential application of dog models to predict the clinical significance of human variants.<\/jats:p>","DOI":"10.3390\/genes14050988","type":"journal-article","created":{"date-parts":[[2023,4,27]],"date-time":"2023-04-27T04:30:47Z","timestamp":1682569847000},"page":"988","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["An ABCC9 Missense Variant Is Associated with Sudden Cardiac Death and Dilated Cardiomyopathy in Juvenile Dogs"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7339-2354","authenticated-orcid":false,"given":"Eva","family":"Furrow","sequence":"first","affiliation":[{"name":"College of Veterinary Medicine, University of Minnesota, St. Paul, MN 55455, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8865-5965","authenticated-orcid":false,"given":"Nicole","family":"Tate","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Minnesota, St. Paul, MN 55455, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5472-5088","authenticated-orcid":false,"given":"Katie","family":"Minor","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Minnesota, St. Paul, MN 55455, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shannon","family":"Martinson","sequence":"additional","affiliation":[{"name":"Atlantic Veterinary College, University of Prince Edward Island, Charlottetown, PE CIA 4P3, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shannon","family":"Larrabee","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Minnesota, St. Paul, MN 55455, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjukka","family":"Anttila","sequence":"additional","affiliation":[{"name":"Pathology, Finnish Food Authority, 00790 Helsinki, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meg","family":"Sleeper","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Florida, Gainesville, FL 32610, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula","family":"Henthorn","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,4,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.mayocp.2012.02.017","article-title":"Cardiac channel molecular autopsy: Insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing","volume":"87","author":"Tester","year":"2012","journal-title":"Mayo Clin. 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