Associated Papers
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.
Kim OH et al.
Bmc Medical Genomics, 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
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 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
Sarcomeric gene variants among Indians with hypertrophic cardiomyopathy: A scoping review.
Koshy L et al.
The Indian Journal of Medical Research, 2023
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.
Yang Q et al.
Journal of the American Heart Association, 2022
Hypertrophic cardiomyopathy mutations in the pliant and light chain-binding regions of the lever arm of human β-cardiac myosin have divergent effects on myosin function.
Morck MM et al.
Elife, 2022
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.
Lesurf R et al.
Npj Genomic Medicine, 2022
Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies.
Kawana M et al.
Frontiers in Physiology, 2022
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Tadros R et al.
Nature Genetics, 2021
Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients.
Pua CJ et al.
Circulation. Genomic and Precision Medicine, 2020
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.
Walsh R et al.
Genome Medicine, 2019
Thick Filament Protein Network, Functions, and Disease Association.
Wang L et al.
Comprehensive Physiology, 2018
Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy.
Dejgaard LA et al.
Data in Brief, 2017
Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.
Alamo L et al.
Elife, 2017
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.
Gómez J 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
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
Mademont-Soler I et al.
Plos One, 2017
MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients.
Mouton JM et al.
Human Genetics, 2016
Patient Outcomes From a Specialized Inherited Arrhythmia Clinic.
Adler A et al.
Circulation. Arrhythmia and Electrophysiology, 2016
Determined to Fail--the Role of Genetic Mechanisms in Heart Failure.
Kayvanpour E et al.
Current Heart Failure Reports, 2015
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR et al.
Heart (british Cardiac Society), 2015
Structural implications of β-cardiac myosin heavy chain mutations in human disease.
Colegrave M et al.
Anatomical Record (hoboken, N.j. : 2007), 2014
Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.
Marsiglia JD et al.
American Heart Journal, 2013
Recent advances in the epidemiology, pathogenesis and prognosis of acute heart failure and cardiomyopathy in Africa.
Sliwa K et al.
Heart (british Cardiac Society), 2013
Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.
Gu Y et al.
Protein & Cell, 2013
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
Lopes LR et al.
Journal of Medical Genetics, 2013
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
Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.
Núñez L et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2013
Genetic variation in angiotensin II type 2 receptor gene influences extent of left ventricular hypertrophy in hypertrophic cardiomyopathy independent of blood pressure.
Carstens N et al.
Journal of the Renin-angiotensin-aldosterone System : Jraas, 2011
Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations.
Heradien M et al.
Heart Rhythm, 2009
Genetic variation in angiotensin-converting enzyme 2 gene is associated with extent of left ventricular hypertrophy in hypertrophic cardiomyopathy.
van der Merwe L et al.
Human Genetics, 2008
Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy.
Revera M et al.
Cardiovascular Research, 2008
[Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy].
Laredo R et al.
Revista Espanola De Cardiologia, 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
Founder mutations among the Dutch.
Zeegers MP et al.
European Journal of Human Genetics : Ejhg, 2004
The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.
Alders M et al.
European Heart Journal, 2003
Expression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation.
Moolman-Smook J et al.
Journal of Medical Genetics, 2000
Mendelian-inherited heart disease: a gateway to understanding mechanisms in heart disease Update on work done at the University of Stellenbosch.
Brink PA et al.
Cardiovascular Journal of Africa, 0
Electrocardiographic and genetic characteristics in first degree relatives of hypertrophic cardiomyopathy probands: A descriptive cross-sectional study from Vietnam.
Phan PD et al.
Jrsm Cardiovascular Disease, 0