Associated Papers
Multiparametric Assessment of TNNI3 Variant Phenotypes in Human iPSC-Cardiomyocytes Correlates with Disease Severity in Patients.
Staudt DW et al.
Biorxiv : the Preprint Server for Biology, 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
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
Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.
Hassoun R et al.
International Journal of Molecular Sciences, 2021
Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology.
Shakur R et al.
Npj Genomic Medicine, 2021
Dilated cardiomyopathy mutations in thin-filament regulatory proteins reduce contractility, suppress systolic Ca2+, and activate NFAT and Akt signaling.
Robinson P et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2020
New insights provided by myofibril mechanics in inherited cardiomyopathies.
Lin YH et al.
Conditioning Medicine, 2019
[Genetic testing to prevent sudden cardiac death].
Stallmeyer B et al.
Der Internist, 2018
Cardiomyopathies and Related Changes in Contractility of Human Heart Muscle.
Vikhorev PG et al.
International Journal of Molecular Sciences, 2018
Molecular Defects in Cardiac Myofilament Ca2+-Regulation Due to Cardiomyopathy-Linked Mutations Can Be Reversed by Small Molecules Binding to Troponin.
Sheehan A et al.
Frontiers in Physiology, 2018
Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes.
Vikhorev PG et al.
Scientific Reports, 2017
Insights and Challenges of Multi-Scale Modeling of Sarcomere Mechanics in cTn and Tm DCM Mutants-Genotype to Cellular Phenotype.
Dewan S et al.
Frontiers in Physiology, 2017
Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?
Marston SB
Frontiers in Physiology, 2016
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
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
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
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
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
Genetic cardiomyopathies causing heart failure.
Cahill TJ et al.
Circulation Research, 2013
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity.
Memo M et al.
Cardiovascular Research, 2013
Inherited cardiomyopathies caused by troponin mutations.
Lu QW et al.
Journal of Geriatric Cardiology : Jgc, 2013
Dilated cardiomyopathy: a disease of the myocardium.
Sanbe A
Biological & Pharmaceutical Bulletin, 2013
Significance of troponin dynamics for Ca2+-mediated regulation of contraction and inherited cardiomyopathy.
Kowlessur D et al.
The Journal of Biological Chemistry, 2012
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
Liu B et al.
Plos One, 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
How do mutations in contractile proteins cause the primary familial cardiomyopathies?
Marston SB
Journal of Cardiovascular Translational Research, 2011
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
Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy.
Carballo S et al.
Circulation Research, 2009
Expanded spectrum of gene causing both hypertrophic cardiomyopathy and dilated cardiomyopathy.
Morimoto S
Circulation Research, 2009
[Hypertrophic cardiomyopathy and dilated cardiomyopathy in six members of a family].
Tatsumi T et al.
Kokyu to Junkan. Respiration & Circulation, 1988