Associated Papers
Redox Imbalance and Genetic Mutations in Heart Failure: Synergistic Mechanisms and Therapeutic Strategies.
Balakrishnan VK et al.
Genes, 2026
Danicamtiv, a Selective Agonist of Cardiac Myosin, for Dilated Cardiomyopathy: A Phase 2 Open-Label Trial.
Lakdawala NK et al.
Journal of the American College of Cardiology, 2025
S2Tag, a novel affinity tag for the capture and immobilization of coiled-coil proteins: Application to the study of human β-cardiac myosin.
Barua B et al.
The Journal of Biological Chemistry, 2025
S2Tag, a novel affinity tag for the capture and immobilization of coiled-coil proteins: application to the study of human β-cardiac myosin.
Barua B et al.
Biorxiv : the Preprint Server for Biology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 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
Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.
Kim OH et al.
Bmc Medical Genomics, 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
Assessing Cardiac Contractility From Single Molecules to Whole Hearts.
Garg A et al.
Jacc. Basic to Translational Science, 2024
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
Clinical phenotypic characteristics in patients carrying MYH7-R143Q mutation with hypertrophic cardiomyopathy.
Zhang L et al.
Current Problems in Cardiology, 2024
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
Genetic Association of Beta-Myosin Heavy-Chain Gene (MYH7) with Cardiac Dysfunction.
Yousaf M et al.
Genes, 2022
Association of Titin Variations With Late-Onset Dilated Cardiomyopathy.
Cannatà A et al.
Jama Cardiology, 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
Myosin dilated cardiomyopathy mutation S532P disrupts actomyosin interactions, leading to altered muscle kinetics, reduced locomotion, and cardiac dilation in Drosophila.
Trujillo AS et al.
Molecular Biology of the Cell, 2021
Direct Sarcomere Modulators Are Promising New Treatments for Cardiomyopathies.
Tsukamoto O
International Journal of Molecular Sciences, 2019
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Dilated cardiomyopathy mutation in the converter domain of human cardiac myosin alters motor activity and response to omecamtiv mecarbil.
Tang W et al.
The Journal of Biological Chemistry, 2019
Dilated cardiomyopathy myosin mutants have reduced force-generating capacity.
Ujfalusi Z et al.
The Journal of Biological Chemistry, 2018
Controlling load-dependent kinetics of β-cardiac myosin at the single-molecule level.
Liu C et al.
Nature Structural & Molecular Biology, 2018
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Kelly MA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.
Alamo L et al.
Elife, 2017
Genetic Variations Leading to Familial Dilated Cardiomyopathy.
Cho KW et al.
Molecules and Cells, 2016
Cryo-EM structure of a human cytoplasmic actomyosin complex at near-atomic resolution.
von der Ecken J et al.
Nature, 2016
Research priorities in sarcomeric cardiomyopathies.
van der Velden J et al.
Cardiovascular Research, 2015
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
Tajsharghi H et al.
European Journal of Human Genetics : Ejhg, 2014
Genetics and disease of ventricular muscle.
Fatkin D et al.
Cold Spring Harbor Perspectives in Medicine, 2014
Genetic mutations and mechanisms in dilated cardiomyopathy.
McNally EM et al.
The Journal of Clinical Investigation, 2013
Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy.
Lakdawala NK et al.
Circulation. Cardiovascular Genetics, 2012
Heuristic methods for finding pathogenic variants in gene coding sequences.
Ohanian M et al.
Journal of the American Heart Association, 2012
Molecular mechanisms of sarcomere dysfunction in dilated and hypertrophic cardiomyopathy.
Frazier AH et al.
Progress in Pediatric Cardiology, 2011
Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.
Rampersaud E et al.
Progress in Pediatric Cardiology, 2011
Cardiomyopathy: a systematic review of disease-causing mutations in myosin heavy chain 7 and their phenotypic manifestations.
Walsh R et al.
Cardiology, 2010
Insights into human beta-cardiac myosin function from single molecule and single cell studies.
Sivaramakrishnan S et al.
Journal of Cardiovascular Translational Research, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.
Tsoutsman T et al.
Clinical and Experimental Pharmacology & Physiology, 2008
Sarcomeric proteins and inherited cardiomyopathies.
Morimoto S
Cardiovascular Research, 2008
Sarcomeric protein mutations in dilated cardiomyopathy.
Chang AN et al.
Heart Failure Reviews, 2005
Genetic causes of human heart failure.
Morita H et al.
The Journal of Clinical Investigation, 2005
Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.
Daehmlow S et al.
Biochemical and Biophysical Research Communications, 2002
Molecular mechanisms of inherited cardiomyopathies.
Fatkin D et al.
Physiological Reviews, 2002
[Genetics of dilated cardiomyopathy].
Osterziel KJ et al.
Zeitschrift Fur Kardiologie, 2001