Associated Papers
Hypertrophic Cardiomyopathy in Underrepresented Populations: Clinical and Genetic Landscape Based on a Russian Single-Center Cohort Study.
Chumakova OS et al.
Genes, 2023
Mouse Models of Cardiomyopathies Caused by Mutations in Troponin C.
Tikunova SB et al.
International Journal of Molecular Sciences, 2023
Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy.
Zaffran S et al.
International Journal of Molecular Sciences, 2023
The effect of Mg2+ on Ca2+ binding to cardiac troponin C in hypertrophic cardiomyopathy associated TNNC1 variants.
Rayani K et al.
The Febs Journal, 2022
Thin filament cardiomyopathies: A review of genetics, disease mechanisms, and emerging therapeutics.
Keyt LK et al.
Frontiers in Cardiovascular Medicine, 2022
Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.
Hassoun R et al.
International Journal of Molecular Sciences, 2021
De Novo Missense Mutations in TNNC1 and TNNI3 Causing Severe Infantile Cardiomyopathy Affect Myofilament Structure and Function and Are Modulated by Troponin Targeting Agents.
Hassoun R et al.
International Journal of Molecular Sciences, 2021
Troponin Variants in Congenital Myopathies: How They Affect Skeletal Muscle Mechanics.
van de Locht M et al.
International Journal of Molecular Sciences, 2021
A comprehensive guide to genetic variants and post-translational modifications of cardiac troponin C.
Reinoso TR et al.
Journal of Muscle Research and Cell Motility, 2021
Troponin structure and function: a view of recent progress.
Marston S et al.
Journal of Muscle Research and Cell Motility, 2020
The intrinsically disordered C terminus of troponin T binds to troponin C to modulate myocardial force generation.
Johnston JR et al.
The Journal of Biological Chemistry, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.
Walsh R et al.
European Heart Journal, 2017
Changes in the dynamics of the cardiac troponin C molecule explain the effects of Ca2+-sensitizing mutations.
Stevens CM et al.
The Journal of Biological Chemistry, 2017
Hypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation.
Veltri T et al.
Frontiers in Physiology, 2017
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.
Pua CJ et al.
Journal of Cardiovascular Translational Research, 2016
Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy Phenotype.
Marques MA et al.
Frontiers in Physiology, 2016
Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?
Marston SB
Frontiers in Physiology, 2016
Structure and function of cardiac troponin C (TNNC1): Implications for heart failure, cardiomyopathies, and troponin modulating drugs.
Li MX et al.
Gene, 2015
Uncoupling of myofilament Ca2+ sensitivity from troponin I phosphorylation by mutations can be reversed by epigallocatechin-3-gallate.
Papadaki M et al.
Cardiovascular Research, 2015
The structural and functional effects of the familial hypertrophic cardiomyopathy-linked cardiac troponin C mutation, L29Q.
Robertson IM et al.
Journal of Molecular and Cellular Cardiology, 2015
Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.
Nagueh SF et al.
Jacc. Cardiovascular Imaging, 2015
Biochemical characterisation of Troponin C mutations causing hypertrophic and dilated cardiomyopathies.
Kalyva A et al.
Journal of Muscle Research and Cell Motility, 2014
Investigating the role of uncoupling of troponin I phosphorylation from changes in myofibrillar Ca(2+)-sensitivity in the pathogenesis of cardiomyopathy.
Messer AE et al.
Frontiers in Physiology, 2014
Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.
Gu Y et al.
Protein & Cell, 2013
A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation.
Parvatiyar MS et al.
The Journal of Biological Chemistry, 2012
Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins.
Landstrom AP et al.
Current Molecular Medicine, 2012
Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.
Song W et al.
The Journal of Biological Chemistry, 2011
Pathogenic peptide deviations support a model of adaptive evolution of chordate cardiac performance by troponin mutations.
Palpant NJ et al.
Physiological Genomics, 2010
Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.
Landstrom AP et al.
Journal of Molecular and Cellular Cardiology, 2008
Sarcomeric proteins and inherited cardiomyopathies.
Morimoto S
Cardiovascular Research, 2008
Characterization of a new certified reference material for human cardiac troponin I.
Bunk DM et al.
Clinical Chemistry, 2006
Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C.
Schmidtmann A et al.
The Febs Journal, 2005
Molecular mechanisms of inherited cardiomyopathies.
Fatkin D et al.
Physiological Reviews, 2002
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy.
Hoffmann B et al.
Human Mutation, 2001