ArticleHuman genetics2019
A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death.
Article in Human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 66 citations in OpenAlex.
- A Large-Scale Cross-Population Evaluation of Genetic Risk Variants for Dilated Cardiomyopathy in Dobermanns.Animal genetics · 2026Article
- Mending the Achilles heels of titin in cardiac and musculoskeletal disease.Biophysical reviews · 2026Review
- Exploring the effects of excipients on complex coacervation.Journal of colloid and interface science · 2025Article
- Cardiology's best friend: Using naturally occurring disease in dogs to understand heart disease in humans.Journal of molecular and cellular cardiology plus · 2025Review
- Association of the TTN, PDK4, and RNF207 mutations with dilated cardiomyopathy in Dobermanns from the United Kingdom.PloS one · 2025Article
- Arrhythmias across the tree of life: comparative insights for human electrophysiology.Frontiers in cardiovascular medicine · 2025Review
- A region on chromosome 16 is associated with Doberman Pinscher dilated cardiomyopathy.Scientific reports · 2024Article
- Evaluation of stem-cell therapies in companion animal disease models: a concise review (2015-2023).Stem cells (Dayton, Ohio) · 2024Review
- The potential for senotherapy as a novel approach to extend life quality in veterinary medicine.Frontiers in veterinary science · 2024Review
- Current genetic models for studying congenital heart diseases: Advantages and disadvantages.Bioinformation · 2024Article
- The Role of Personalized Medicine in Companion Animal Cardiology.The Veterinary clinics of North America. Small animal practice · 2023Review
- Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human.Genome medicine · 2023Article
- Predominant myosin superrelaxed state in canine myocardium with naturally occurring dilated cardiomyopathy.American journal of physiology. Heart and circulatory physiology · 2023Article
- Effects of myocardial sheetlet sliding on left ventricular function.Biomechanics and modeling in mechanobiology · 2023Article
- AnGenes · 2023Article
- Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.PLoS genetics · 2023Article
- Comparison of echocardiographic measurements and cardiac biomarkers in healthy dogs eating nontraditional or traditional diets.Journal of veterinary internal medicine · 2023Article
- Animal models and animal-free innovations for cardiovascular research: current status and routes to be explored. Consensus document of the ESC Working Group on Myocardial Function and the ESC Working Group on Cellular Biology of the Heart.Cardiovascular research · 2022Article
- Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype.Neuromuscular disorders : NMD · 2022Article
- AnGenes · 2022Article
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Authors and funding
15 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The dog provides a large animal model of familial dilated cardiomyopathy for the study of important aspects of this common familial cardiovascular disease. We have previously demonstrated a form of canine dilated cardiomyopathy in the Doberman pinscher breed that is inherited as an autosomal dominant trait and is associated with a splice site variant in the pyruvate dehydrogenase kinase 4 (PDK4) gene, however, genetic heterogeneity exists in this species as well and not all affected dogs have the PDK4 variant. Whole genome sequencing of a family of Doberman pinchers with dilated cardiomyopathy and sudden cardiac death without the PDK4 variant was performed. A pathologic missense variant in the titin gene located in an immunoglobulin-like domain in the I-band spanning region of the molecule was identified and was highly associated with the disease (p < 0.0001). We demonstrate here the identification of a variant in the titin gene highly associated with the disease in this spontaneous canine model of dilated cardiomyopathy. This large animal model of familial dilated cardiomyopathy shares many similarities with the human disease including mode of inheritance, clinical presentation, genetic heterogeneity and a pathologic variant in the titin gene. The dog is an excellent model to improve our understanding of the genotypic phenotypic relationships, penetrance, expression and the pathophysiology of variants in the titin gene.
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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.