Associated Papers
Spectrum and Clinical Interpretation of TTN Variants in Ecuadorian Patients with Heart Disease: Insights into VUS and Likely Pathogenic Variants.
Guevara-Ramírez P et al.
International Journal of Molecular Sciences, 2025
A Case Study Identified a New Mutation in the TTN Gene for Inherited Hypertrophic Cardiomyopathy.
Dong J et al.
International Journal of General Medicine, 2025
TITINdb2-expanding annotation and structural information for protein variants in the giant sarcomeric protein titin.
Weston T et al.
Bioinformatics Advances, 2025
An overview of insights and updates on TTN mutations in cardiomyopathies.
Saha S et al.
Frontiers in Pharmacology, 2025
Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies.
Jolfayi AG et al.
Scientific Reports, 2024
Structure determination and analysis of titin A-band fibronectin type III domains provides insights for disease-linked variants and protein oligomerisation.
Rees M et al.
Journal of Structural Biology, 2023
Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.
Noureddine M et al.
Frontiers in Physiology, 2023
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Influence of V54M mutation in giant muscle protein titin: a computational screening and molecular dynamics approach.
Thirumal Kumar D et al.
Journal of Biomolecular Structure & Dynamics, 2017
Exploration of pathomechanisms triggered by a single-nucleotide polymorphism in titin's I-band: the cardiomyopathy-linked mutation T2580I.
Bogomolovas J et al.
Open Biology, 2016
The Rapidly Evolving Role of Titin in Cardiac Physiology and Cardiomyopathy.
Gerull B
The Canadian Journal of Cardiology, 2015
Titin mutations: the fall of Goliath.
Neiva-Sousa M et al.
Heart Failure Reviews, 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
A rising titan: TTN review and mutation update.
Chauveau C et al.
Human Mutation, 2014
Cardiac titin and heart disease.
LeWinter MM et al.
Journal of Cardiovascular Pharmacology, 2014
Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.
Gu Y et al.
Protein & Cell, 2013
A novel titin mutation in adult-onset familial dilated cardiomyopathy.
Yoskovitz G et al.
The American Journal of Cardiology, 2012
Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes.
Taylor M et al.
Circulation, 2011
Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy.
Landstrom AP et al.
Circulation, 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
Molecular etiology and pathogenesis of hereditary cardiomyopathy.
Kimura A
Circulation Journal : Official Journal of the Japanese Circulation Society, 2008
Molecular etiology of idiopathic cardiomyopathy.
Arimura T et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007
Sarcomeric protein mutations in dilated cardiomyopathy.
Chang AN et al.
Heart Failure Reviews, 2005
Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy.
Matsumoto Y et al.
Journal of Muscle Research and Cell Motility, 2005
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.
Gerull B et al.
Nature Genetics, 2002
Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin.
Weston TGR et al.
Wires Mechanisms of Disease, 0
Titin: The Missing Link in Cardiac Physiology.
ElSaygh J et al.
Cardiology in Review, 0