Associated Papers
Conformational state of myosin's disordered loop 2 structure mediates actomyosin association during crossbridge formation.
Robeson KZ et al.
Protein Science : a Publication of the Protein Society, 2026
Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.
van der Wilt CN et al.
European Heart Journal Open, 2026
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
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
Clinically Actionable Hypertrophic Cardiomyopathy Genes in South Asian Indian Patients.
Rao VJ et al.
Journal of the American Heart Association, 2025
Hypertrophic cardiomyopathy in identical twins: a case report with mismatch between genotype and phenotype.
Márquez-Murillo MF et al.
European Heart Journal. Case Reports, 2025
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.
Suzuki T et al.
Journal of the American Heart Association, 2025
Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry.
Wang J et al.
Precision Clinical Medicine, 2025
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 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
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
Reassessing the unifying hypothesis for hypercontractility caused by myosin mutations in hypertrophic cardiomyopathy.
Spudich JA et al.
The Embo Journal, 2024
Clinical exome sequencing unravels the diverse spectrum of genetic heterogeneity and genotype-phenotype correlations in hypertrophic cardiomyopathy.
Harikrishnan S et al.
International Journal of Cardiology, 2024
Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.
Kim OH et al.
Bmc Medical Genomics, 2024
Myosin inhibitor reverses hypertrophic cardiomyopathy in genotypically diverse pediatric iPSC-cardiomyocytes to mirror variant correction.
Kinnear C et al.
Cell Reports. Medicine, 2024
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 2024
Advances in Hypertrophic Cardiomyopathy Disease Modelling Using hiPSC-Derived Cardiomyocytes.
Dababneh S et al.
The Canadian Journal of Cardiology, 2024
Multiplexed Functional Assessments of MYH7 Variants in Human Cardiomyocytes.
Friedman CE et al.
Circulation. Genomic and Precision Medicine, 2024
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.
Verdonschot JAJ et al.
Circulation. Genomic and Precision Medicine, 2024
Genetic Testing Yield and Clinical Characteristics of Hypertrophic Cardiomyopathy in Understudied Ethnic Groups: Insights From a New Zealand National Registry.
Earle NJ et al.
Circulation. Heart Failure, 2024
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.
Allouba M et al.
European Heart Journal, 2023
Age and Sex Differences in the Genetics of Cardiomyopathy.
Akinrinade O et al.
Journal of Cardiovascular Translational Research, 2023
The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye.
Oktay V et al.
Anatolian Journal of Cardiology, 2023
Microstructural and Microvascular Phenotype of Sarcomere Mutation Carriers and Overt Hypertrophic Cardiomyopathy.
Joy G et al.
Circulation, 2023
Mavacamten, a precision medicine for hypertrophic cardiomyopathy: From a motor protein to patients.
Nag S et al.
Science Advances, 2023
Lineage-specific regulatory changes in hypertrophic cardiomyopathy unraveled by single-nucleus RNA-seq and spatial transcriptomics.
Liu X et al.
Cell Discovery, 2023
Characterization of cardiac metabolism in iPSC-derived cardiomyocytes: lessons from maturation and disease modeling.
Vučković S et al.
Stem Cell Research & Therapy, 2022
Metabolite Signature in the Carriers of Pathogenic Genetic Variants for Cardiomyopathy: A Population-Based METSIM Study.
Ravi R et al.
Metabolites, 2022
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.
Lesurf R et al.
Npj Genomic Medicine, 2022
It Is Not Carved in Stone-The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies.
Westphal DS et al.
Journal of Cardiovascular Development and Disease, 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
Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies.
Kawana M et al.
Frontiers in Physiology, 2022
Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.
Yoneda ZT et al.
Jama Cardiology, 2021
Distinct Metabolomic Signatures in Preclinical and Obstructive Hypertrophic Cardiomyopathy.
Schuldt M et al.
Cells, 2021
Genetics of Cardiomyopathy: Clinical and Mechanistic Implications for Heart Failure.
Kim KH et al.
Korean Circulation Journal, 2021
Myocardial Deformation Analysis in MYBPC3 and MYH7 Related Sarcomeric Hypertrophic Cardiomyopathy-The Graz Hypertrophic Cardiomyopathy Registry.
Höller V et al.
Genes, 2021
Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals.
Guo L et al.
Jama Cardiology, 2021
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021