Associated Papers
Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.
van der Wilt CN et al.
European Heart Journal Open, 2026
Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.
van den Dolder FW et al.
Jacc. Basic to Translational Science, 2025
Pathogenic genes and clinical prognosis in hypertrophic cardiomyopathy.
Hong Y et al.
World Journal of Cardiology, 2025
Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.
Han D et al.
Animal Cells and Systems, 2025
Cardiac troponin I directly binds and inhibits mitochondrial ATP synthase with a noncanonical role in the post-ischemic heart.
Elezaby A et al.
Nature Cardiovascular Research, 2024
Noteworthy phenomena in pediatric inherited cardiomyopathy.
Jiang JH et al.
World Journal of Pediatrics : Wjp, 2024
Modulation of Structure and Dynamics of Cardiac Troponin by Phosphorylation and Mutations Revealed by Molecular Dynamics Simulations.
Yang Z et al.
The Journal of Physical Chemistry. B, 2023
Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function.
Landim-Vieira M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Mechanism based therapies enable personalised treatment of hypertrophic cardiomyopathy.
Margara F et al.
Scientific Reports, 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
Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology.
Shakur R et al.
Npj Genomic Medicine, 2021
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
Cardiomyopathic troponin mutations predominantly occur at its interface with actin and tropomyosin.
Tobacman LS et al.
The Journal of General Physiology, 2021
Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy.
Fahed AC et al.
Circulation. Genomic and Precision Medicine, 2020
Disruption of embryonic ROCK signaling reproduces the sarcomeric phenotype of hypertrophic cardiomyopathy.
Bailey KE et al.
Jci Insight, 2019
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Restrictive Cardiomyopathy Troponin I R145W Mutation Does Not Perturb Myofilament Length-dependent Activation in Human Cardiac Sarcomeres.
Dvornikov AV et al.
The Journal of Biological Chemistry, 2016
Effects of Cardiac Troponin I Mutation P83S on Contractile Properties and the Modulation by PKA-Mediated Phosphorylation.
Cheng Y et al.
The Journal of Physical Chemistry. B, 2016
Troponins, intrinsic disorder, and cardiomyopathy.
Na I et al.
Biological Chemistry, 2016
Cardiac troponin structure-function and the influence of hypertrophic cardiomyopathy associated mutations on modulation of contractility.
Cheng Y et al.
Archives of Biochemistry and Biophysics, 2016
Contribution of Post-translational Phosphorylation to Sarcomere-Linked Cardiomyopathy Phenotypes.
Westfall MV
Frontiers in Physiology, 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
Troponin I Mutations R146G and R21C Alter Cardiac Troponin Function, Contractile Properties, and Modulation by Protein Kinase A (PKA)-mediated Phosphorylation.
Cheng Y et al.
The Journal of Biological Chemistry, 2015
The R21C Mutation in Cardiac Troponin I Imposes Differences in Contractile Force Generation between the Left and Right Ventricles of Knock-In Mice.
Liang J et al.
Biomed Research International, 2015
Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.
Zhao Y et al.
Biomed Research International, 2015
The dilated cardiomyopathy-causing mutation ACTC E361G in cardiac muscle myofibrils specifically abolishes modulation of Ca(2+) regulation by phosphorylation of troponin I.
Vikhorev PG et al.
Biophysical Journal, 2014
Long term ablation of protein kinase A (PKA)-mediated cardiac troponin I phosphorylation leads to excitation-contraction uncoupling and diastolic dysfunction in a knock-in mouse model of hypertrophic cardiomyopathy.
Dweck D et al.
The Journal of Biological Chemistry, 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
Inherited cardiomyopathies caused by troponin mutations.
Lu QW et al.
Journal of Geriatric Cardiology : Jgc, 2013
Generation and functional characterization of knock-in mice harboring the cardiac troponin I-R21C mutation associated with hypertrophic cardiomyopathy.
Wang Y et al.
The Journal of Biological Chemistry, 2012
Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy.
van den Wijngaard A et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2011
Troponin: regulatory function and disorders.
Ohtsuki I et al.
Biochemical and Biophysical Research Communications, 2008
Phosphorylation-dependent conformational transition of the cardiac specific N-extension of troponin I in cardiac troponin.
Howarth JW et al.
Journal of Molecular Biology, 2007
Is there a common genetic basis for all familial cardiomyopathies?
Perrot A et al.
European Journal of Heart Failure, 2007
Gene mutations in apical hypertrophic cardiomyopathy.
Arad M et al.
Circulation, 2005
A mutation in the N-terminus of troponin I that is associated with hypertrophic cardiomyopathy affects the Ca(2+)-sensitivity, phosphorylation kinetics and proteolytic susceptibility of troponin.
Gomes AV et al.
Journal of Molecular and Cellular Cardiology, 2005
Sarcomeric protein mutations in dilated cardiomyopathy.
Chang AN et al.
Heart Failure Reviews, 2005
Cellular and molecular aspects of familial hypertrophic cardiomyopathy caused by mutations in the cardiac troponin I gene.
Gomes AV et al.
Molecular and Cellular Biochemistry, 2004
Inherited cardiomyopathies as a troponin disease.
Harada K et al.
The Japanese Journal of Physiology, 2004
Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.
Van Driest SL et al.
Circulation, 2003
Role of skeletal and smooth muscle myosin light chains.
Lowey S et al.
Biophysical Journal, 1995