Associated Papers
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 2025
Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy.
Bottillo I et al.
Journal of Molecular and Cellular Cardiology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 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
Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery.
Zhang X et al.
Genome Medicine, 2024
Titin domains with reduced core hydrophobicity cause dilated cardiomyopathy.
Martinez-Martin I et al.
Cell Reports, 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.
My I et al.
Journal of Clinical Medicine, 2021
Uncovering Inherited Cardiomyopathy With Human Induced Pluripotent Stem Cells.
Jiang X et al.
Frontiers in Cell and Developmental Biology, 2021
Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes.
Franaszczyk M et al.
Journal of Clinical Medicine, 2020
Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.
Brodehl A et al.
International Journal of Molecular Sciences, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
The giant titin: how to evaluate its role in cardiomyopathies.
Azad A et al.
Journal of Muscle Research and Cell Motility, 2019
Concise Review: The Current State of Human In Vitro Cardiac Disease Modeling: A Focus on Gene Editing and Tissue Engineering.
Hoes MF et al.
Stem Cells Translational Medicine, 2019
Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes.
Streckfuss-Bömeke K et al.
Journal of Molecular and Cellular Cardiology, 2017
Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.
Giacomelli E et al.
Cellular and Molecular Life Sciences : Cmls, 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
Untangling the Biology of Genetic Cardiomyopathies with Pluripotent Stem Cell Disease Models.
Buikema JW et al.
Current Cardiology Reports, 2017
Induced pluripotent stem cells in the inherited cardiomyopathies: From disease mechanisms to novel therapies.
Ross SB et al.
Trends in Cardiovascular Medicine, 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
The Rapidly Evolving Role of Titin in Cardiac Physiology and Cardiomyopathy.
Gerull B
The Canadian Journal of Cardiology, 2015
HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.
Hinson JT et al.
Science (new York, N.y.), 2015
Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes.
Taylor M et al.
Circulation, 2011
Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin.
Weston TGR et al.
Wires Mechanisms of Disease, 0