{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T11:16:59Z","timestamp":1792063019417,"version":"4.4.0"},"reference-count":31,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2013,11,1]],"date-time":"2013-11-01T00:00:00Z","timestamp":1383264000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100001458","name":"AKC Canine Health Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001458","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["OD 010939"],"award-info":[{"award-number":["OD 010939"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Cystinuria, one of the first recognized inborn errors of metabolism, has been reported in many dog breeds.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Hypothesis\/Objectives<\/jats:title>\n                    <jats:p>To determine urinary cystine concentrations, inheritance, and mutations in the SLC3A1 and SLC7A9 genes associated with cystinuria in 3 breeds.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Animals<\/jats:title>\n                    <jats:p>Mixed and purebred Labrador Retrievers (n = 6), Australian Cattle Dogs (6), Miniature Pinschers (4), and 1 mixed breed dog with cystine urolithiasis, relatives and control dogs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Urinary cystinuria and aminoaciduria was assessed and exons of the SLC3A1 and SLC7A9 genes were sequenced from genomic DNA.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>In each breed, male and female dogs, independent of neuter status, were found to form calculi. A frameshift mutation in SLC3A1 (c.350delG) resulting in a premature stop codon was identified in autosomal-recessive (AR) cystinuria in Labrador Retrievers and mixed breed dogs. A 6 bp deletion (c.1095_1100del) removing 2 threonines in SLC3A1 was found in autosomal-dominant (AD) cystinuria with a more severe phenotype in homozygous than in heterozygous Australian Cattle Dogs. A missense mutation in SLC7A9 (c.964G&amp;gt;A) was discovered in AD cystinuria in Miniature Pinschers with only heterozygous affected dogs observed to date. Breed-specific DNA tests were developed, but the prevalence of each mutation remains unknown.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions and clinical importance<\/jats:title>\n                    <jats:p>These studies describe the first AD inheritance and the first putative SLC7A9 mutation to cause cystinuria in dogs and expand our understanding of this phenotypically and genetically heterogeneous disease, leading to a new classification system for canine cystinuria and better therapeutic management and genetic control in these breeds.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jvim.12176","type":"journal-article","created":{"date-parts":[[2013,9,3]],"date-time":"2013-09-03T15:41:01Z","timestamp":1378222861000},"page":"1400-1408","source":"Crossref","is-referenced-by-count":56,"title":["<i>SLC3A1<\/i>\n                    and\n                    <i>SLC7A9<\/i>\n                    Mutations in Autosomal Recessive or Dominant Canine Cystinuria: A New Classification System"],"prefix":"10.1093","volume":"27","author":[{"given":"A.-K.","family":"Brons","sequence":"first","affiliation":[{"name":"Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania , Philadelphia, PA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.S.","family":"Henthorn","sequence":"additional","affiliation":[{"name":"Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania , Philadelphia, PA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Raj","sequence":"additional","affiliation":[{"name":"Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania , Philadelphia, PA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.A.","family":"Fitzgerald","sequence":"additional","affiliation":[{"name":"Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania , Philadelphia, PA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Liu","sequence":"additional","affiliation":[{"name":"Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania , Philadelphia, PA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.C.","family":"Sewell","sequence":"additional","affiliation":[{"name":"University Children's Hospital Department of Pediatrics, , Frankfurt am Main,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Giger","sequence":"additional","affiliation":[{"name":"Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania , Philadelphia, PA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2013,11,1]]},"reference":[{"key":"2026022000544490600_jvim12176-bib-0001","volume-title":"OMIA - Online Mendelian Inheritance in Animals"},{"key":"2026022000544490600_jvim12176-bib-0002","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0140-6736(01)78482-6","article-title":"The Croonian lectures on inborn errors of metabolism","volume":"172","author":"Garrod","year":"1908","journal-title":"Lancet"},{"key":"2026022000544490600_jvim12176-bib-0003","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1038\/nrneph.2010.69","article-title":"Pathophysiology and treatment of cystinuria","volume":"6","author":"Chillaron","year":"2010","journal-title":"Nat Rev Nephrol"},{"key":"2026022000544490600_jvim12176-bib-0004","first-page":"4909","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Palacin","year":"2001","edition":"8th ed"},{"key":"2026022000544490600_jvim12176-bib-0005","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1038\/ng0494-420","article-title":"Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine","volume":"6","author":"Calonge","year":"1994","journal-title":"Nat Genet"},{"key":"2026022000544490600_jvim12176-bib-0006","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1111\/j.1748-5827.1966.tb04483.x","article-title":"Urolithiasis in the dog. 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