ArticleJournal of veterinary internal medicine
SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system.
Article in Journal of veterinary internal medicine. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 59 citations in OpenAlex.
- Cystinuria in an Australian Cattle Dog Family-A Seemingly Androgen-Associated Autosomal Dominant Trait.Veterinary sciences · 2026Article
- Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.Current research in physiology · 2025Review
- A retrospective study on epidemiology and management of canine cystine uroliths in one part of Norway from 2015 to 2020.Acta veterinaria Scandinavica · 2023Article
- Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.PLoS genetics · 2023Article
- Differences in renal cortex transcriptional profiling of wild-type and novel type B cystinuria model rats.Urolithiasis · 2022Article
- Web resource on available DNA variant tests for hereditary diseases and genetic predispositions in dogs and cats: An Update.Human genetics · 2021Article
- Mastiff breed mortality: A study of owner experience, dog age and longevity.Veterinary and animal science · 2021Article
- Cystinuria in Dogs and Cats: What Do We Know after Almost 200 Years?Animals : an open access journal from MDPI · 2021Review
- Calcium oxalate urolithiasis in juvenile dogs.The Veterinary record · 2021Article
- Urolithiasis in dogs: Evaluation of trends in urolith composition and risk factors (2006-2018).Journal of veterinary internal medicine · 2021Article
- Animal models of naturally occurring stone disease.Nature reviews. Urology · 2020Review
- Cryo-EM structure of the human heteromeric amino acid transporter bScience advances · 2020Article
- Retained laser fiber in the nidus of a recurrent cystine urolith in an intact male English bulldog.The Canadian veterinary journal = La revue veterinaire canadienne · 2019Article
- Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs.PLoS genetics · 2018Article
- [Cystinuria caused by a SLC7A9 missense mutation in Siamese-crossbred littermates in Germany].Tierarztliche Praxis. Ausgabe K, Kleintiere/Heimtiere · 2017Article
- Delineation of cystinuria in Saudi Arabia: A case series.BMC nephrology · 2017Article
- Frequency of five disease-causing genetic mutations in a large mixed-breed dog population (2011-2012).PloS one · 2017Article
- Analysis of canine urolith submissions to the Canadian Veterinary Urolith Centre, 1998-2014.The Canadian veterinary journal = La revue veterinaire canadienne · 2017Article
- ACVIM Small Animal Consensus Recommendations on the Treatment and Prevention of Uroliths in Dogs and Cats.Journal of veterinary internal medicine · 2016Article
- Canine cystine urolithiasis: A review of 1760 submissions over 35 years (1979-2013).The Canadian veterinary journal = La revue veterinaire canadienne · 2016Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundCystinuria, one of the first recognized inborn errors of metabolism, has been reported in many dog breeds. HYPOTHESIS/
objectivesTo determine urinary cystine concentrations, inheritance, and mutations in the SLC3A1 and SLC7A9 genes associated with cystinuria in 3 breeds. ANIMALS: 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.
methodsUrinary cystinuria and aminoaciduria was assessed and exons of the SLC3A1 and SLC7A9 genes were sequenced from genomic DNA.
resultsIn 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>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. CONCLUSIONS AND CLINICAL IMPORTANCE: 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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.