Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Titin-truncating variants in hiPSC cardiomyocytes induce pathogenic proteinopathy and sarcomere defects with preserved core contractile machinery

15 Dec 2022

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Advanced biosensing and bioanalysis techniques
Share to Cardiomyopathy and Myosin Studies
Share to RNA and protein synthesis mechanisms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 36525964
DOI: 10.1016/j.stemcr.2022.11.008

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Titin-truncating variants in hiPSC cardiomyocytes induce pathogenic proteinopathy and sarcomere defects with preserved core contractile machineryPMID 36525964Read ↗

Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathySemantic proximity Read ↗

Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations.Semantic proximity Read ↗

Development of a Cardiac Sarcomere Functional Genomics Platform to Enable Scalable Interrogation of Human TNNT2 Variants.Semantic proximity Read ↗

Mechanisms of Pathogenicity of Hypertrophic Cardiomyopathy-Associated Troponin T (TNNT2) Variant R278C <sup>+/-</sup> During DevelopmentSemantic proximity Read ↗

A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of CardiomyopathiesSemantic proximity Read ↗

Unveiling cellular mechanisms underlying MYZAP related dilated cardiomyopathy using patient specific hiPSC cardiomyocytes.Semantic proximity Read ↗

Hypertrophic cardiomyopathy-linked mutation in troponin T causes myofibrillar disarray and pro-arrhythmic action potential changes in human iPSC cardiomyocytes.Semantic proximity Read ↗

Reading Frame Repair of TTN Truncation Variants Restores Titin Quantity and Functions.Semantic proximity Read ↗

Patient and cell-type specific hiPSC-modeling of a truncating titin variant associated with atrial fibrillationSemantic proximity Read ↗

Functional abnormalities in induced Pluripotent Stem Cell-derived cardiomyocytes generated from titin-mutated patients with dilated cardiomyopathySemantic proximity Read ↗

Targeted Therapies in Genetic Dilated and Hypertrophic Cardiomyopathies: From Molecular Mechanisms to Therapeutic Targets. A Position Paper from the Heart Failure Association (HFA) and the Working Group on Myocardial Function of the European Society of Cardiology (ESC)Semantic proximity Read ↗

cMyBP-C ablation in human engineered cardiac tissue causes progressive Ca2+-handling abnormalities.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.