Associated Papers
Redox Imbalance and Genetic Mutations in Heart Failure: Synergistic Mechanisms and Therapeutic Strategies.
Balakrishnan VK et al.
Genes, 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
Hypertrophic cardiomyopathy: comprehensive insights into pathogenic genes and genotype-phenotype associations.
Hao L et al.
Frontiers in Cell and Developmental Biology, 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
Efficient Installation of Heterozygous Mutations in Human Pluripotent Stem Cells Using Prime Editing.
Suter A et al.
The Crispr Journal, 2025
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Sudden death in a homozygous familial hypercholesterolemic child with noncompaction cardiomyopathy. Just a coincidence?
Ibarretxe-Guerediaga D et al.
Revista Espanola De Cardiologia (english Ed.), 2025
Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.
Suzuki T et al.
Journal of the American Heart Association, 2025
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 2025
Regulatory T cells attenuate chronic inflammation and cardiac fibrosis in hypertrophic cardiomyopathy.
Wang YJ et al.
Science Translational Medicine, 2025
Investigating the dual role of mitochondrial and nuclear genome variants in pediatric cardiomyopathies.
Temena MA et al.
Scientific Reports, 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
Clinical Features and Prospective Outcomes of Thin-Filament Hypertrophic Cardiomyopathy: Intrinsic Data and Comparative Insights from Other Cohorts.
Chumakova OS et al.
Journal of Clinical Medicine, 2025
Contribution of hypoxia-inducible factor 1alpha to pathogenesis of sarcomeric hypertrophic cardiomyopathy.
Raj Murthi S et al.
Scientific Reports, 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
Genetic landscape of hypertrophic cardiomyopathy in Hong Kong Chinese population.
Lee DPH et al.
Frontiers in Genetics, 2025
The associations among genetic features, late gadolinium enhancement and prognosis in hypertrophic cardiomyopathy.
Su W et al.
Frontiers in Cardiovascular Medicine, 2025
Identification of candidate cardiomyopathy modifier genes through genome sequencing and RNA profiling.
Lindholm ME et al.
Frontiers in Cardiovascular Medicine, 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
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 2024
Reassessing the unifying hypothesis for hypercontractility caused by myosin mutations in hypertrophic cardiomyopathy.
Spudich JA et al.
The Embo Journal, 2024
Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.
Kim OH et al.
Bmc Medical Genomics, 2024
Patterns of Left Ventricular Remodelling in Children and Young Patients with Hypertrophic Cardiomyopathy.
Monda E et al.
Journal of Clinical Medicine, 2024
Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation.
Ribeiro M et al.
Human Cell, 2024
Cardiomyopathy in children: a single-centre, retrospective study of genetic and clinical characteristics.
Sun Q et al.
Bmj Paediatrics Open, 2024
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 2024
Incomplete-penetrant hypertrophic cardiomyopathy MYH7 G256E mutation causes hypercontractility and elevated mitochondrial respiration.
Lee S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.
Silva SME et al.
Cardiovascular Diagnosis and Therapy, 2024
Current perspectives of sudden cardiac death management in hypertrophic cardiomyopathy.
Pu L et al.
Heart Failure Reviews, 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
Impact of pregnancy on the natural history of women with hypertrophic cardiomyopathy.
Fumagalli C et al.
European Journal of Preventive Cardiology, 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
Inhibition of miR-199a-3p in a murine hypertrophic cardiomyopathy (HCM) model attenuates fibrotic remodeling.
Zalivina I et al.
Journal of Molecular and Cellular Cardiology Plus, 2023
[Clinical and genetic analysis of eight children with Primary hypertrophic cardiomyopathy].
Sun Q et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
A Family with Myh7 Mutation and Different Forms of Cardiomyopathies.
Catrina BI et al.
Biomedicines, 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
Case Report: Hypertrophic cardiomyopathy with recurrent episodes of ventricular fibrillation and concurrent sinus arrest.
Hamidi J et al.
Frontiers in Cardiovascular Medicine, 2023
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Lipov A et al.
Nature Cardiovascular Research, 2023
Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.
Mazzaccara C et al.
Biomolecules, 2022
Hypertrophic cardiomyopathy: an up-to-date snapshot of the clinical drug development pipeline.
Tamargo J et al.
Expert Opinion on Investigational Drugs, 2022
Characterization of cardiac metabolism in iPSC-derived cardiomyocytes: lessons from maturation and disease modeling.
Vučković S et al.
Stem Cell Research & Therapy, 2022