Associated Papers
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 Genotype-Phenotype Analysis in Lithuanian Single-Center Cohort.
Šukys M et al.
International Journal of Molecular Sciences, 2025
The G256E HCM mutation prolongs cardiac muscle relaxation via altered nucleotide handling.
Regnier M et al.
Research Square, 2025
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Hypertrophic cardiomyopathy mutations Y115H and E497D disrupt the folded-back state of human β-cardiac myosin allosterically.
Nandwani N et al.
Nature Communications, 2025
The G256E HCM mutation prolongs relaxation via altered nucleotide handling.
Kao KY et al.
Biorxiv : the Preprint Server for Biology, 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
Structure of the Thin Filament in Human iPSC-derived Cardiomyocytes and its Response to Heart Disease.
Woldeyes RA et al.
Biorxiv : the Preprint Server for Biology, 2025
Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.
Kim OH et al.
Bmc Medical Genomics, 2024
Correction for Lee et al., Incomplete-penetrant hypertrophic cardiomyopathy MYH7 G256E mutation causes hypercontractility and elevated mitochondrial respiration.
Unknown Author
Proceedings of the National Academy of Sciences of the United States of America, 2024
YAP dysregulation triggers hypertrophy by CCN2 secretion and TGFβ uptake in human pluripotent stem cell-derived cardiomyocytes.
Chirikian O et al.
Biorxiv : the Preprint Server for Biology, 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
Hypertrophic cardiomyopathy mutations Y115H and E497D disrupt the folded-back state of human beta-cardiac myosin allosterically.
Nandwani N et al.
Biorxiv : the Preprint Server for Biology, 2024
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
Multi-scale models reveal hypertrophic cardiomyopathy MYH7 G256E mutation drives hypercontractility and elevated mitochondrial respiration.
Lee S et al.
Biorxiv : the Preprint Server for Biology, 2023
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
Epidemiology of the inherited cardiomyopathies.
McKenna WJ et al.
Nature Reviews. Cardiology, 2021
Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.
Norrish G et al.
Circulation, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.
Alamo L et al.
Elife, 2017
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.
Kobayashi Y et al.
Genome Medicine, 2017
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR et al.
Heart (british Cardiac Society), 2015
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
Lopes LR et al.
Journal of Medical Genetics, 2013
Genetic engineering and therapy for inherited and acquired cardiomyopathies.
Day S et al.
Annals of the New York Academy of Sciences, 2006
Molecular genetics in hypertrophic cardiomyopathy: towards individualized management of the disease.
Charron P et al.
Expert Review of Molecular Diagnostics, 2006
Molecular genetics of sudden cardiac death in small animals - a review.
Hyun C et al.
Veterinary Journal (london, England : 1997), 2006
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
Van Driest SL et al.
Journal of the American College of Cardiology, 2004
Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients.
García-Castro M et al.
Clinical Chemistry, 2003
Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations: prediction of clinical status--is molecular genetics a new tool for the management of hypertrophic cardiomyopathy in clinical practice?
Hengstenberg C et al.
Cardiovascular Research, 2003
Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy.
Van Driest SL et al.
Circulation, 2002
Genetics of familial cardiomyopathies and arrhythmias.
Keller DI et al.
Swiss Medical Weekly, 2002
Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.
Blair E et al.
Circulation Research, 2002
Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis.
Karibe A et al.
Circulation, 2001
Diagnosis of hypertrophic cardiomyopathy and screening for the phenotype suggestive of gene carriage in familial disease: a simple echocardiographic procedure.
Devlin AM et al.
Journal of Medical Screening, 2000
Familial hypertrophic cardiomyopathy: from mutations to functional defects.
Bonne G et al.
Circulation Research, 1998
Molecular genetic basis of hypertrophic cardiomyopathy: genetic markers for sudden cardiac death.
Marian AJ et al.
Journal of Cardiovascular Electrophysiology, 1998
Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.
Rayment I et al.
Proceedings of the National Academy of Sciences of the United States of America, 1995
Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.
Fananapazir L et al.
Proceedings of the National Academy of Sciences of the United States of America, 1993