ArticleStem cell reports2023
Titin-truncating variants in hiPSC cardiomyocytes induce pathogenic proteinopathy and sarcomere defects with preserved core contractile machinery.
Article in Stem cell reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 23 citations in OpenAlex.
- Patient-Derived 3D Heart-On-a-Chip Model of Dilated Cardiomyopathy With Embedded Bead-Based Mapping of Tissue Contractility.Advanced healthcare materials · 2026Article
- Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients with TTN mutations.Stem cell research · 2026Article
- Alpha protein kinase 3 gene therapy restores heart function in mouse and human models of cardiomyopathy.Nature cardiovascular research · 2026Article
- Human iPSC-derived 3D cardiac models for cardiomyopathies: organoids, spheroids, and engineered heart tissues as translational platforms.Stem cells (Dayton, Ohio) · 2026Review
- A titin truncating variant linked to atrial fibrillation increases atrial profibrotic signalling and cholinergic sensitivity.Cardiovascular research · 2026Article
- Advanced in vitro cardiac models for drug evaluation: integration of organoids, engineered tissues, and microphysiological systems.Microsystems & nanoengineering · 2026Review
- A comprehensive framework for the interpretation of TTN missense variants.Genome medicine · 2026Article
- High-Throughput Methods for Variant Functional Assessment in Cardiac Disease.Circulation. Genomic and precision medicine · 2026Review
- Titin Cardiomyopathy, Emerging Evidence: More Than A Big Heart.Current cardiology reports · 2025Review
- A pathogenic titin missense mutation in hiPSC-derived cardiomyocytes predisposes to ventricular fibrillation in acute ST-segment elevation myocardial infarction.Frontiers in cardiovascular medicine · 2025Article
- Association of the TTN, PDK4, and RNF207 mutations with dilated cardiomyopathy in Dobermanns from the United Kingdom.PloS one · 2025Article
- Human induced pluripotent stem cell-derived cardiomyocytes for disease modeling and drug discovery.Frontiers in bioengineering and biotechnology · 2025Review
- Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease.Human molecular genetics · 2024Article
- Toward the latest advancements in cardiac regeneration using induced pluripotent stem cells (iPSCs) technology: approaches and challenges.Journal of translational medicine · 2024Review
- Construction and evaluation of immune-related diagnostic model in patients with heart failure caused by idiopathic dilated cardiomyopathy.BMC cardiovascular disorders · 2024Article
- Titin: roles in cardiac function and diseases.Frontiers in physiology · 2024Review
- Muscle-fiber specific genetic manipulation ofFrontiers in physiology · 2024Article
Corrections and comments
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Authors and funding
17 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Titin-truncating variants (TTNtv) are the single largest genetic cause of dilated cardiomyopathy (DCM). In this study we modeled disease phenotypes of A-band TTNtv-induced DCM in human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) using genome editing and tissue engineering technologies. Transcriptomic, cellular, and micro-tissue studies revealed that A-band TTNtv hiPSC-CMs exhibit pathogenic proteinopathy, sarcomere defects, aberrant Na
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