Associated Papers
Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry.
Wang J et al.
Precision Clinical Medicine, 2025
Left ventricular septal convexity in differentiating hypertrophic cardiomyopathy from hypertensive heart disease - a cardiac magnetic resonance study.
Tarkiainen M et al.
Scientific Reports, 2025
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 2025
Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.
van den Dolder FW et al.
Jacc. Basic to Translational Science, 2025
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
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
Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.
Jaouadi H et al.
Frontiers in Medicine, 2024
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
Microstructural and Microvascular Phenotype of Sarcomere Mutation Carriers and Overt Hypertrophic Cardiomyopathy.
Joy G et al.
Circulation, 2023
An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy.
Tudurachi BS et al.
International Journal of Molecular Sciences, 2023
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 2023
Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory.
Stava TT et al.
European Journal of Preventive Cardiology, 2022
Modeling hypertrophic cardiomyopathy with human cardiomyocytes derived from induced pluripotent stem cells.
Li J 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
Diagnostic validity and clinical utility of genetic testing for hypertrophic cardiomyopathy: a systematic review and meta-analysis.
Christian S et al.
Open Heart, 2022
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J et al.
Bmc Cardiovascular Disorders, 2021
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Tadros R et al.
Nature Genetics, 2021
Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.
Helms AS et al.
Circulation. Genomic and Precision Medicine, 2020
Characterization and validation of a preventative therapy for hypertrophic cardiomyopathy in a murine model of the disease.
Viola HM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Mutation-specific pathology and treatment of hypertrophic cardiomyopathy in patients, mouse models and human engineered heart tissue.
Wijnker PJM et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020
Modelling sarcomeric cardiomyopathies with human cardiomyocytes derived from induced pluripotent stem cells.
Sewanan LR et al.
The Journal of Physiology, 2020
Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.
Brodehl A et al.
International Journal of Molecular Sciences, 2019
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
Cardiomyopathy phenotypes in human-induced pluripotent stem cell-derived cardiomyocytes-a systematic review.
Eschenhagen T et al.
Pflugers Archiv : European Journal of Physiology, 2019
CMR derived left ventricular septal convexity in carriers of the hypertrophic cardiomyopathy-causing MYBPC3-Q1061X mutation.
Tarkiainen M et al.
Scientific Reports, 2019
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
Jääskeläinen P et al.
Esc Heart Failure, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Fibrosis and wall thickness affect ventricular repolarization dynamics in hypertrophic cardiomyopathy.
Jalanko M et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2018
Divergent effects of adrenaline in human induced pluripotent stem cell-derived cardiomyocytes obtained from hypertrophic cardiomyopathy.
Prajapati C et al.
Disease Models & Mechanisms, 2018
Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.
Vanninen SUM et al.
Plos One, 2018
The Role of Cardiac Myosin Binding Protein C3 in Hypertrophic Cardiomyopathy-Progress and Novel Therapeutic Opportunities.
Mohamed IA et al.
Journal of Cellular Physiology, 2017
Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy.
Ross SB et al.
Circulation. Cardiovascular Genetics, 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
A Novel Founder Mutation in MYBPC3: Phenotypic Comparison With the Most Prevalent MYBPC3 Mutation in Spain.
Sabater-Molina M et al.
Revista Espanola De Cardiologia (english Ed.), 2017
Current perspectives in hypertrophic cardiomyopathy with the focus on patients in the Finnish population: a review.
Kuusisto J et al.
Annals of Medicine, 2016
Left ventricular mechanical dispersion is associated with nonsustained ventricular tachycardia in hypertrophic cardiomyopathy.
Jalanko M et al.
Annals of Medicine, 2016
Cardiovascular magnetic resonance of mitral valve length in hypertrophic cardiomyopathy.
Tarkiainen M et al.
Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance, 2016
Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α-Tropomyosin Mutation for Hypertrophic Cardiomyopathy.
Ojala M et al.
Stem Cells International, 2016
Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology.
Carrier L et al.
Gene, 2015
The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy.
Jørgenrud B et al.
Plos One, 2015
A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy.
Jääskeläinen P et al.
Annals of Medicine, 2014
Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population.
Jääskeläinen P et al.
Annals of Medicine, 2013
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.
Teirlinck CH et al.
Bmc Medical Genetics, 2012