Associated Papers
Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy.
Bottillo I et al.
Journal of Molecular and Cellular Cardiology, 2025
TITINdb2-expanding annotation and structural information for protein variants in the giant sarcomeric protein titin.
Weston T et al.
Bioinformatics Advances, 2025
The Genetic Factors Influencing Cardiomyopathies and Heart Failure across the Allele Frequency Spectrum.
Mukhopadhyay S et al.
Journal of Cardiovascular Translational Research, 2024
Titin domains with reduced core hydrophobicity cause dilated cardiomyopathy.
Martinez-Martin I et al.
Cell Reports, 2023
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
Alterations in oligodendrocyte transcriptional networks reveal region-specific vulnerabilities to neurological disease.
Tommasini D et al.
Iscience, 2023
Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.
Noureddine M et al.
Frontiers in Physiology, 2023
A mitochondrial long-chain fatty acid oxidation defect leads to transfer RNA uncharging and activation of the integrated stress response in the mouse heart.
Ranea-Robles P et al.
Cardiovascular Research, 2022
Genetic Basis of Left Ventricular Noncompaction.
Rojanasopondist P et al.
Circulation. Genomic and Precision Medicine, 2022
Protein Quality Control at the Sarcomere: Titin Protection and Turnover and Implications for Disease Development.
Kötter S et al.
Frontiers in Physiology, 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Making sense of missense variants in TTN-related congenital myopathies.
Rees M et al.
Acta Neuropathologica, 2021
Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant.
Jiang H et al.
Basic Research in Cardiology, 2021
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.
Savarese M et al.
Journal of Neuromuscular Diseases, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Navigating Genetic and Phenotypic Uncertainty in Left Ventricular Noncompaction.
Rhee JW et al.
Circulation. Cardiovascular Genetics, 2017
When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies.
Ehsan M et al.
Journal of Muscle Research and Cell Motility, 2017
Letter by Finsterer and Zarrouk-Mahjoub Regarding Article, "Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction".
Finsterer J et al.
Circulation. Cardiovascular Genetics, 2016
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.
Hastings R et al.
Circulation. Cardiovascular Genetics, 2016
Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin.
Weston TGR et al.
Wires Mechanisms of Disease, 0