Associated Papers
AAV-TNNI3 rescues an experimental murine Tnni3 mutation resulting in thin filament mediated DCM.
Bushway PJ et al.
Journal of Molecular and Cellular Cardiology, 2026
Exploring the c.406 C > T variant in TNNI3 gene: pathogenic insights into restrictive cardiomyopathy.
Masoumi T et al.
Bmc Medical Genomics, 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
Noteworthy phenomena in pediatric inherited cardiomyopathy.
Jiang JH et al.
World Journal of Pediatrics : Wjp, 2024
The cardiomyocyte origins of diastolic dysfunction: cellular components of myocardial "stiffness".
Janssens JV et al.
American Journal of Physiology. Heart and Circulatory Physiology, 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
Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children.
Ishida H et al.
Circulation. Genomic and Precision Medicine, 2023
Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations.
Yang Z et al.
Reviews in Cardiovascular Medicine, 2022
Clinical genetic testing in four highly suspected pediatric restrictive cardiomyopathy cases.
Zheng M et al.
Bmc Cardiovascular Disorders, 2022
Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling.
Chintanaphol M et al.
Reviews in Cardiovascular Medicine, 2022
Hgs Deficiency Caused Restrictive Cardiomyopathy via Disrupting Proteostasis.
Li Z et al.
International Journal of Biological Sciences, 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
Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach.
Cimiotti D et al.
International Journal of Molecular Sciences, 2021
Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients.
Pua CJ et al.
Circulation. Genomic and Precision Medicine, 2020
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Molecular mechanisms in cardiomyopathy.
Dadson K et al.
Clinical Science (london, England : 1979), 2017
Diverse Phenotypic Expression of Cardiomyopathies in a Family with TNNI3 p.Arg145Trp Mutation.
Hwang JW et al.
Korean Circulation Journal, 2017
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Update on hypertrophic cardiomyopathy and a guide to the guidelines.
Sen-Chowdhry S et al.
Nature Reviews. Cardiology, 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
A Systematic Review of Phenotypic Features Associated With Cardiac Troponin I Mutations in Hereditary Cardiomyopathies.
Mogensen J et al.
The Canadian Journal of Cardiology, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Troponin Mutation Caused Diastolic Dysfunction and Experimental Treatment in Transgenic Mice with Cardiomyopathy.
Xu Y et al.
Gstf Journal of Advances in Medical Research, 2014
Dose-dependent diastolic dysfunction and early death in a mouse model with cardiac troponin mutations.
Li Y et al.
Journal of Molecular and Cellular Cardiology, 2013
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
Mutations in Troponin that cause HCM, DCM AND RCM: what can we learn about thin filament function?
Willott RH 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
Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes.
Kaski JP et al.
Heart (british Cardiac Society), 2008
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
Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression.
Keren A et al.
Nature Clinical Practice. Cardiovascular Medicine, 2008
Is there a common genetic basis for all familial cardiomyopathies?
Perrot A et al.
European Journal of Heart Failure, 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
Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I.
Kobayashi T et al.
The Journal of Biological Chemistry, 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
Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.
Mogensen J et al.
Journal of the American College of Cardiology, 2004
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