Associated Papers
Sex- and Exercise-Dependent Modulation of Hypertrophic Remodeling by the MCT1 rs1049434 Polymorphism.
Fernández-Suárez N et al.
Genes, 2026
Hypertrophic Cardiomyopathy: The Impact of Age at Diagnosis of the Proband on Genetic Yield, Clinical Presentation, Outcomes, and Yield of Family Screening.
Silajdzija E et al.
Journal of the American Heart Association, 2025
Age-Dependent Role of Genetics and Renal Function for Atrial Fibrillation Development in Hypertrophic Cardiomyopathy.
Chung H et al.
Korean Circulation Journal, 2025
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Novel Cardiac Troponin-I Missense Variant (c.593C>T) Is Associated With Familial Hypertrophic Cardiomyopathy in Golden Retrievers.
Rivas VN et al.
Circulation. Genomic and Precision Medicine, 2025
Unraveling the genetics of feline hypertrophic cardiomyopathy: a multiomics study of 138 cats.
Kaplan JL et al.
G3 (bethesda, Md.), 2025
Establishing a robust genetic sequencing and gene expression data library in cardiovascularly healthy cats.
Kaplan JL et al.
Scientific Reports, 2025
Somatic NAP1L1 p.D349E promotes cardiac hypertrophy through cGAS-STING-IFN signaling.
Lv C et al.
Nature Communications, 2025
Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.
van den Dolder FW et al.
Jacc. Basic to Translational Science, 2025
Clinical-Diagnostic and Therapeutic Advances in Feline Hypertrophic Cardiomyopathy.
Gaia de Sousa F et al.
Veterinary Sciences, 2025
Identification of novel genetic variants associated with feline cardiomyopathy using targeted next-generation sequencing.
Raffle J et al.
Scientific Reports, 2025
Transcriptomic and genetic profiling in a spontaneous non-human primate model of hypertrophic cardiomyopathy and sudden cardiac death.
Rivas VN et al.
Scientific Reports, 2024
Influence of Clinical Aspects and Genetic Factors on Feline HCM Severity and Development.
Korobova V et al.
Veterinary Sciences, 2024
Exploring contractile protein mechanisms and target medications for cardiomyopathic patients with diastolic dysfunction.
Gerber D et al.
Pediatric Discovery, 2024
Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines.
Boeykens F et al.
Frontiers in Veterinary Science, 2024
Bringing into focus the central domains C3-C6 of myosin binding protein C.
Doh CY et al.
Frontiers in Physiology, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
CRISPR/Cas9 gene editing in induced pluripotent stem cells to investigate the feline hypertrophic cardiomyopathy causing MYBPC3/R820W mutation.
Dutton LC et al.
Plos One, 2024
The Role of Personalized Medicine in Companion Animal Cardiology.
Rivas VN et al.
The Veterinary Clinics of North America. Small Animal Practice, 2023
Major Cardiac Events in Patients and Relatives With Hereditary Hypertrophic Cardiomyopathy.
Nielsen SK et al.
Jacc. Advances, 2023
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA et al.
American Journal of Human Genetics, 2023
Hypertrophic Cardiomyopathy: Genetic Foundations, Outcomes, Interconnections, and Their Modifiers.
Glavaški M et al.
Medicina (kaunas, Lithuania), 2023
Hypertrophic cardiomyopathy in purpose-bred cats with the A31P mutation in cardiac myosin binding protein-C.
Stern JA et al.
Scientific Reports, 2023
Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan.
Akiyama N et al.
Plos One, 2023
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Lipov A et al.
Nature Cardiovascular Research, 2023
Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats.
Anderson H et al.
Plos Genetics, 2022
Prevalence of cardiac myosin-binding protein C3 mutations in Maine Coon cats with hypertrophic cardiomyopathy.
Sukumolanan P et al.
Veterinary World, 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals.
Guo L et al.
Jama Cardiology, 2021
Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers.
Hughes RK et al.
Journal of the American Heart Association, 2021
Absence of known feline MYH7 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy.
O'Donnell K et al.
Animal Genetics, 2021
Sudden cardiac death: A comparative review of humans, dogs and cats.
Brugada-Terradellas C et al.
Veterinary Journal (london, England : 1997), 2021
Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.
Thompson AD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.
Suay-Corredera C et al.
The Journal of Biological Chemistry, 2021
Heat shock proteins and small nucleolar RNAs are dysregulated in a Drosophila model for feline hypertrophic cardiomyopathy.
Tallo CA et al.
G3 (bethesda, Md.), 2021
Contribution of sarcomere gene mutations to left atrial function in patients with hypertrophic cardiomyopathy.
Chung H et al.
Cardiovascular Ultrasound, 2021
Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.
Helms AS et al.
Circulation. Genomic and Precision Medicine, 2020
Modelling genetic diseases for drug development: Hypertrophic cardiomyopathy.
Santini L et al.
Pharmacological Research, 2020
Genetics of feline hypertrophic cardiomyopathy.
Gil-Ortuño C et al.
Clinical Genetics, 2020
Familial Atrial Enlargement, Conduction Disorder and Symmetric Cardiac Hypertrophy Are Early Signs of PRKAG2 R302Q.
Hu J et al.
Current Medical Science, 2020
A Novel Homozygous Intronic Variant in TNNT2 Associates With Feline Cardiomyopathy.
McNamara JW et al.
Frontiers in Physiology, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Precision medicine validation: identifying the MYBPC3 A31P variant with whole-genome sequencing in two Maine Coon cats with hypertrophic cardiomyopathy.
Ontiveros ES et al.
Journal of Feline Medicine and Surgery, 2019
A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat.
Schipper T et al.
European Journal of Human Genetics : Ejhg, 2019