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
Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.
Hassoun R et al.
International Journal of Molecular Sciences, 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
[Genetic testing to prevent sudden cardiac death].
Stallmeyer B et al.
Der Internist, 2018
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
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
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
van Spaendonck-Zwarts KY et al.
European Journal of Heart Failure, 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
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
Molecular mechanisms of sarcomere dysfunction in dilated and hypertrophic cardiomyopathy.
Frazier AH 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
Chondroid and Osseous Metaplasia of the Central Fibrous Body in Adolescent Hearts with Mutations in TNNI3 and TNNT2 genes.
Carreon CK et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0