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
Distinct mechanisms drive divergent phenotypes in hypertrophic and dilated cardiomyopathy-associated TPM1 variants.
Halder SS et al.
The Journal of Clinical Investigation, 2024
Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.
Kim OH et al.
Bmc Medical Genomics, 2024
Massive Parallel DNA Sequencing of Patients with Inherited Cardiomyopathies in Cyprus and Suggestion of Digenic or Oligogenic Inheritance.
Koutsofti C et al.
Genes, 2024
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
Multiscale biophysical models of cardiomyopathies reveal complexities challenging existing dogmas.
Scott B et al.
Biophysical Journal, 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
Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies.
Kawana M et al.
Frontiers in Physiology, 2022
Cardiomyopathy mutations impact the actin-activated power stroke of human cardiac myosin.
Tang W et al.
Biophysical Journal, 2021
Direct Sarcomere Modulators Are Promising New Treatments for Cardiomyopathies.
Tsukamoto O
International Journal of Molecular Sciences, 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
Converter domain mutations in myosin alter structural kinetics and motor function.
Gunther LK et al.
The Journal of Biological Chemistry, 2019
Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin.
Toepfer CN et al.
Science Translational Medicine, 2019
Dilated cardiomyopathy myosin mutants have reduced force-generating capacity.
Ujfalusi Z et al.
The Journal of Biological Chemistry, 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
Familial hypertrophic cardiomyopathy caused by a de novo Gly716Arg mutation of the β-myosin heavy chain.
Zhao P et al.
Cardiology in the Young, 2017
Genetic Variations Leading to Familial Dilated Cardiomyopathy.
Cho KW et al.
Molecules and Cells, 2016
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.
García-Giustiniani D et al.
Heart (british Cardiac Society), 2015
Research priorities in sarcomeric cardiomyopathies.
van der Velden J et al.
Cardiovascular Research, 2015
[Pro731Ser mutation in the β-myosin heavy chain and hypertrophic cardiomyopathy in a Chinese pedigree].
Zhao X et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 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
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
Sarcomeric proteins and inherited cardiomyopathies.
Morimoto S
Cardiovascular Research, 2008
Sarcomeric protein mutations in dilated cardiomyopathy.
Chang AN et al.
Heart Failure Reviews, 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