Associated Papers
Transcriptional and functional effects of mavacamten in multiple porcine and human models with hypertrophic cardiomyopathy.
Kiselev E et al.
British Journal of Pharmacology, 2026
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.
Mora-Ayestarán N et al.
European Heart Journal, 2025
Early Cytoskeletal Remodeling Drives Hypertrophic Cardiomyopathy Pathogenesis in MYH6/7 Mutant hiPSC-Derived Cardiomyocytes.
Shameem M et al.
Journal of Cardiovascular Development and Disease, 2025
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Genetic, Clinical, and Sociodemographic Profile of Individuals with Diagnosis or Family History of Hypertrophic Cardiomyopathy: Insights from a Prospective Cohort.
Santos ES et al.
Genes, 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
Mavacamten inhibits myosin activity by stabilising the myosin interacting-heads motif and stalling motor force generation.
McMillan SN et al.
Biorxiv : the Preprint Server for Biology, 2025
Patient-specific hiPSC-derived cardiomyocytes indicate allelic and contractile imbalance as pathogenic factor in early-stage Hypertrophic Cardiomyopathy.
Weber N et al.
Journal of Molecular and Cellular Cardiology, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Cardiomyopathy: pathogenesis and therapeutic interventions.
Huang S et al.
Medcomm, 2024
Circular RNA circZFPM2 regulates cardiomyocyte hypertrophy and survival.
Neufeldt D et al.
Basic Research in Cardiology, 2024
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 2024
Homologous mutations in human β, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation.
Liu C et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
A New Leu714Arg Variant in the Converter Domain of MYH7 is Associated with a Severe Form of Familial Hypertrophic Cardiomyopathy.
Golubenko MV et al.
Frontiers in Bioscience (scholar Edition), 2024
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
Multiscale biophysical models of cardiomyopathies reveal complexities challenging existing dogmas.
Scott B et al.
Biophysical Journal, 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
Homologous mutations in β, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation.
Liu C et al.
Biorxiv : the Preprint Server for Biology, 2023
Circulating miR-499a-5p Is a Potential Biomarker of MYH7-Associated Hypertrophic Cardiomyopathy.
Baulina N et al.
International Journal of Molecular Sciences, 2022
Myosin Heavy Chain Converter Domain Mutations Drive Early-Stage Changes in Extracellular Matrix Dynamics in Hypertrophic Cardiomyopathy.
Hsieh J et al.
Frontiers in Cell and Developmental Biology, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Transcriptional bursts and heterogeneity among cardiomyocytes in hypertrophic cardiomyopathy.
Burkart V et al.
Frontiers in Cardiovascular Medicine, 2022
Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies.
Kawana M et al.
Frontiers in Physiology, 2022
Myofibre Hyper-Contractility in Horses Expressing the Myosin Heavy Chain Myopathy Mutation, MYH1E321G.
Ochala J et al.
Cells, 2021
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
Myocardial Deformation Analysis in MYBPC3 and MYH7 Related Sarcomeric Hypertrophic Cardiomyopathy-The Graz Hypertrophic Cardiomyopathy Registry.
Höller V et al.
Genes, 2021
Arrhythmogenic potential of myocardial disarray in hypertrophic cardiomyopathy: genetic basis, functional consequences and relation to sudden cardiac death.
Finocchiaro G et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2021
Cardiomyopathy mutations impact the actin-activated power stroke of human cardiac myosin.
Tang W et al.
Biophysical Journal, 2021
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
Generation of two iPSC clones (MHHi021-A and MHHi021-B) from a patient with hypertrophic cardiomyopathy with p.Arg723Gly mutation in the MYH7 gene.
Merkert S et al.
Stem Cell Research, 2021
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J et al.
Bmc Cardiovascular Disorders, 2021
Modelling genetic diseases for drug development: Hypertrophic cardiomyopathy.
Santini L et al.
Pharmacological Research, 2020
Disease mutations in striated muscle myosins.
Parker F et al.
Biophysical Reviews, 2020
Stochastic allelic expression as trigger for contractile imbalance in hypertrophic cardiomyopathy.
Montag J et al.
Biophysical Reviews, 2020
Fropofol prevents disease progression in mice with hypertrophic cardiomyopathy.
Huang Y et al.
Cardiovascular Research, 2020
Hypertrophic cardiomyopathy MYH7 mutation R723G alters mRNA secondary structure.
Rose J et al.
Physiological Genomics, 2020
An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China.
Zhang K et al.
Frontiers in Genetics, 2020
Myosin motor domains carrying mutations implicated in early or late onset hypertrophic cardiomyopathy have similar properties.
Vera CD et al.
The Journal of Biological Chemistry, 2019
Hypertrophic Cardiomyopathy: A Vicious Cycle Triggered by Sarcomere Mutations and Secondary Disease Hits.
Wijnker PJM et al.
Antioxidants & Redox Signaling, 2019
Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.
Norrish G et al.
Circulation, 2019
β-Cardiac myosin hypertrophic cardiomyopathy mutations release sequestered heads and increase enzymatic activity.
Adhikari AS et al.
Nature Communications, 2019
Altered force generation and cell-to-cell contractile imbalance in hypertrophic cardiomyopathy.
Kraft T et al.
Pflugers Archiv : European Journal of Physiology, 2019
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.
Bonaventura J et al.
Archives of Medical Science : Ams, 2019