Associated Papers
Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.
Han D et al.
Animal Cells and Systems, 2025
Exploring contractile protein mechanisms and target medications for cardiomyopathic patients with diastolic dysfunction.
Gerber D et al.
Pediatric Discovery, 2024
Challenging of ECMO application in pediatric restrictive cardiomyopathy: case report of a novel TNNI3 variant.
Jin Y et al.
Frontiers in Cardiovascular Medicine, 2024
Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations.
Yang Z et al.
Reviews in Cardiovascular Medicine, 2022
A novel Troponin I mutation associated with severe restrictive cardiomyopathy-a case report of a 27-year-old woman with fatigue.
Gerhardt T et al.
European Heart Journal. Case Reports, 2022
Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology.
Shakur R et al.
Npj Genomic Medicine, 2021
Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach.
Cimiotti D et al.
International Journal of Molecular Sciences, 2021
Infantile restrictive cardiomyopathy: cTnI-R170G/W impair the interplay of sarcomeric proteins and the integrity of thin filaments.
Cimiotti D et al.
Plos One, 2020
A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3).
Pantou MP et al.
Bmc Medical Genetics, 2019
Diverse Phenotypic Expression of Cardiomyopathies in a Family with TNNI3 p.Arg145Trp Mutation.
Hwang JW et al.
Korean Circulation Journal, 2017
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
Rubattu S et al.
International Journal of Molecular Sciences, 2016
Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?
Marston SB
Frontiers in Physiology, 2016
Restrictive Cardiomyopathy Caused by Troponin Mutations: Application of Disease Animal Models in Translational Studies.
Liu X et al.
Frontiers in Physiology, 2016
The MOGE(S) classification of cardiomyopathy for clinicians.
Arbustini E et al.
Journal of the American College of Cardiology, 2014
The myosin-activated thin filament regulatory state, M⁻-open: a link to hypertrophic cardiomyopathy (HCM).
Lehrer SS et al.
Journal of Muscle Research and Cell Motility, 2014
Inherited cardiomyopathies caused by troponin mutations.
Lu QW et al.
Journal of Geriatric Cardiology : Jgc, 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
Correcting diastolic dysfunction by Ca2+ desensitizing troponin in a transgenic mouse model of restrictive cardiomyopathy.
Li Y et al.
Journal of Molecular and Cellular Cardiology, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Malignant and benign mutations in familial cardiomyopathies: insights into mutations linked to complex cardiovascular phenotypes.
Xu Q et al.
Journal of Molecular and Cellular Cardiology, 2010
Cardiac troponin mutations and restrictive cardiomyopathy.
Parvatiyar MS et al.
Journal of Biomedicine & Biotechnology, 2010
Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice.
Wen Y et al.
Journal of Molecular Biology, 2009
Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI.
Du J et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2008
Troponin: regulatory function and disorders.
Ohtsuki I et al.
Biochemical and Biophysical Research Communications, 2008
Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype.
Kubo T et al.
Journal of the American College of Cardiology, 2007
Troponin mutations in cardiomyopathies.
Mogensen J
Advances in Experimental Medicine and Biology, 2007
A point mutation (R192H) in the C-terminus of human cardiac troponin I causes diastolic dysfunction in transgenic mice.
Du J et al.
Archives of Biochemistry and Biophysics, 2006
Drastic Ca2+ sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy.
Yumoto F et al.
Biochemical and Biophysical Research Communications, 2005
Mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development.
Gomes AV et al.
The Journal of Biological Chemistry, 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
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
Mogensen J et al.
The Journal of Clinical Investigation, 2003
Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy.
Mouton JM et al.
Cardiovascular Journal of Africa, 0