Associated Papers
MYBPC3 N-terminal missense mutations linked to hypertrophic cardiomyopathy strengthen actin binding and enhance residue mobility.
Kanassatega RS et al.
The Journal of Biological Chemistry, 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
Perinatal death in pig models of hypertrophic cardiomyopathy carrying sarcomere pathogenic variants.
Flisikowska T et al.
Journal of Molecular and Cellular Cardiology Plus, 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
Single Cell Transcriptomic Profiling of MYBPC3-Associated Hypertrophic Cardiomyopathy Across Species Reveals Conservation of Biological Process But Not Gene Expression.
Ali SA et al.
Journal of the American Heart Association, 2025
Desmin disorganisation: A key feature in feline hypertrophic cardiomyopathy.
Cheng WC et al.
Plos One, 2025
Linking clinical and imaging diagnostic assessments of the feline hypertrophic cardiomyopathy phenotype.
de Sousa FG et al.
Frontiers in Veterinary Science, 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
The D75N and P161S Mutations in the C0-C2 Fragment of cMyBP-C Associated with Hypertrophic Cardiomyopathy Disturb the Thin Filament Activation, Nucleotide Exchange in Myosin, and Actin-Myosin Interaction.
Kochurova AM et al.
International Journal of Molecular Sciences, 2024
Evaluation of galectin-3 and titin in cats with a sarcomeric gene mutation associated with echocardiography.
Demeekul K et al.
Veterinary World, 2024
Genetic Basis of Hypertrophic Cardiomyopathy in Cats.
Grzeczka A et al.
Current Issues in Molecular Biology, 2024
Cardiac myosin inhibitor, CK-586, minimally reduces systolic function and ameliorates obstruction in feline hypertrophic cardiomyopathy.
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
The cardiomyocyte origins of diastolic dysfunction: cellular components of myocardial "stiffness".
Janssens JV et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2024
Missense mutations in the central domains of cardiac myosin binding protein-C and their potential contribution to hypertrophic cardiomyopathy.
Pearce A et al.
The Journal of Biological Chemistry, 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
The Role of Personalized Medicine in Companion Animal Cardiology.
Rivas VN et al.
The Veterinary Clinics of North America. Small Animal Practice, 2023
Cardiomyopathy associated 5 (CMYA5) implicated as a genetic risk factor for radial hemimelia in Siamese cats.
Bilgen N et al.
Journal of Feline Medicine and Surgery, 2023
Cryo-electron tomography of intact cardiac muscle reveals myosin binding protein-C linking myosin and actin filaments.
Huang X et al.
Journal of Muscle Research and Cell Motility, 2023
Hypertrophic cardiomyopathy in purpose-bred cats with the A31P mutation in cardiac myosin binding protein-C.
Stern JA et al.
Scientific Reports, 2023
Effects of Aficamten on cardiac contractility in a feline translational model of hypertrophic cardiomyopathy.
Sharpe AN et al.
Scientific Reports, 2023
Pharmacokinetics of a single dose of Aficamten (CK-274) on cardiac contractility in a A31P MYBPC3 hypertrophic cardiomyopathy cat model.
Sharpe AN et al.
Journal of Veterinary Pharmacology and Therapeutics, 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
A Nonsense Variant in the DMD Gene Causes X-Linked Muscular Dystrophy in the Maine Coon Cat.
Beckers E et al.
Animals : an Open Access Journal From Mdpi, 2022
Hypertrophic cardiomyopathy: an up-to-date snapshot of the clinical drug development pipeline.
Tamargo J et al.
Expert Opinion on Investigational Drugs, 2022
The TNNT2:c.95-108G>A variant is common in Maine Coons and shows no association with hypertrophic cardiomyopathy.
Schipper T et al.
Animal Genetics, 2022
Echocardiography and MALDI-TOF Identification of Myosin-Binding Protein C3 A74T Gene Mutations Involved Healthy and Mutated Bengal Cats.
Demeekul K et al.
Animals : an Open Access Journal From Mdpi, 2022
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
Ambulatory electrocardiography, heart rate variability, and pharmacologic stress testing in cats with subclinical hypertrophic cardiomyopathy.
Walker AL et al.
Scientific Reports, 2022
Prevalence of cardiac myosin-binding protein C3 mutations in Maine Coon cats with hypertrophic cardiomyopathy.
Sukumolanan P et al.
Veterinary World, 2022
Assessment of the Contribution of a Thermodynamic and Mechanical Destabilization of Myosin-Binding Protein C Domain C2 to the Pathomechanism of Hypertrophic Cardiomyopathy-Causing Double Mutation MYBPC3Δ25bp/D389V.
Schwäbe FV et al.
International Journal of Molecular Sciences, 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
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
Analysis of the Serum Peptidomics Profile for Cats With Sarcomeric Gene Mutation and Hypertrophic Cardiomyopathy.
Sukumolanan P et al.
Frontiers in Veterinary Science, 2021
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
Canine infantile left ventricular noncompaction.
Vilcu M et al.
Bmc Veterinary Research, 2020
A Novel Homozygous Intronic Variant in TNNT2 Associates With Feline Cardiomyopathy.
McNamara JW et al.
Frontiers in Physiology, 2020