Associated Papers
ACMG-Recommended Actionable Secondary Findings from 1600 Clinical Exomes in the South Marmara Region in Turkiye.
Temel SG et al.
International Journal of Molecular Sciences, 2026
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.
Allouba M et al.
European Heart Journal, 2023
Properties of Cardiac Myosin with Cardiomyopathic Mutations in Essential Light Chains.
Yampolskaya DS et al.
Biochemistry. Biokhimiia, 2022
Identification and genetic analysis of rare variants in myosin family genes in 412 Han Chinese congenital heart disease patients.
Zhang Y et al.
Molecular Genetics & Genomic Medicine, 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
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.
Osborn DPS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Patients With Hypertrophic Cardiomyopathy Deemed Genotype Negative Based on Research Grade Genetic Analysis: Time for Repeat Diagnostic Testing With Next-Generation Sequencing.
O'Hare BJ et al.
Circulation. Genomic and Precision Medicine, 2020
Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains.
Yadav S et al.
Pflugers Archiv : European Journal of Physiology, 2019
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
Essential Light Chains of Myosin and Their Role in Functioning of the Myosin Motor.
Logvinova DS et al.
Biochemistry. Biokhimiia, 2018
Thick Filament Protein Network, Functions, and Disease Association.
Wang L et al.
Comprehensive Physiology, 2018
A Complete Absence of Missense Mutation in Myosin Regulatory and Essential Light Chain Genes of South Indian Hypertrophic and Dilated Cardiomyopathies.
Rani DS et al.
Cardiology, 2018
Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.
Alamo L et al.
Elife, 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
Molecular mechanism regulating myosin and cardiac functions by ELC.
Lossie J et al.
Biochemical and Biophysical Research Communications, 2014
Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation.
Jay A et al.
Cardiology, 2013
Mutations of ventricular essential myosin light chain disturb myosin binding and sarcomeric sorting.
Lossie J et al.
Cardiovascular Research, 2012
A novel Myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivity.
Andersen PS et al.
Biochemistry Research International, 2012
Structural and functional aspects of the myosin essential light chain in cardiac muscle contraction.
Muthu P et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2011
In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament.
Harris SP et al.
Circulation Research, 2011
Thick and thin filament gene mutations in striated muscle diseases.
Tajsharghi H
International Journal of Molecular Sciences, 2008
Sarcomeric proteins and inherited cardiomyopathies.
Morimoto S
Cardiovascular Research, 2008
Myosin essential light chain in health and disease.
Hernandez OM et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2007
Gene mutations in apical hypertrophic cardiomyopathy.
Arad M et al.
Circulation, 2005
Molecular mechanisms of inherited cardiomyopathies.
Fatkin D et al.
Physiological Reviews, 2002
Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology.
Olson TM et al.
Circulation, 2002
Advances in molecular genetics and management of hypertrophic cardiomyopathy.
Fananapazir L
Jama, 1999
Familial hypertrophic cardiomyopathy: from mutations to functional defects.
Bonne G et al.
Circulation Research, 1998
Modulation of contractility in human cardiac hypertrophy by myosin essential light chain isoforms.
Schaub MC et al.
Cardiovascular Research, 1998