ReviewScientific reports2024
Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies.
Review in Scientific reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Multi-ancestry genetic architecture of heart failure subtypes.Nature communications · 2026Pooled it
- Cardiomyocyte-Specific bcl11b Knockout Causes Left Ventricular Noncompaction by Dysregulating pou3f2 and Titin.International journal of molecular sciences · 2026Article
- Genetic Overlap Between Dilated Cardiomyopathy and Neurological Disorders: Insights from a Next-Generation Sequencing Study.Diagnostics (Basel, Switzerland) · 2026Article
- Transcript-aware rare genetic variant association analyses of cardiopulmonary traits in participants from the All of Us Research Program.Nature communications · 2026Article
- Metabolic Adaptation and Potential Regulatory Mechanisms of Longissimus Dorsi-Derived Skeletal Muscle Satellite Cells from Hu Sheep Under Insulin Induction.Animals : an open access journal from MDPI · 2026Article
- Carrier Frequencies of Medically Actionable Pathogenic Variants in the Russian Population.International journal of molecular sciences · 2026Article
- Multi-Omics and Artificial Intelligence in Cardiovascular Medicine: From Mechanistic Insights to Clinical Translation.Biomedicines · 2026Review
- Cardiac resynchronization therapy and pulmonary artery banding in advanced heart failure infants with left ventricular dilated cardiomyopathy and left bundle branch block.Pediatric investigation · 2026Article
- Review
- Single-cell RNA sequencing analysis revealed a potential association between ELK3 expression and the progression of multiple myeloma.Frontiers in immunology · 2026Article
- Identification of novel and known variants inFrontiers in cardiovascular medicine · 2026Article
- Spectrum and Clinical Interpretation ofInternational journal of molecular sciences · 2025Article
- Prevalence of deleterious variants in cardiomyopathy genes in early-onset atrial fibrillation.Research square · 2025Article
- HDAC5 Inhibition as a Therapeutic Strategy for Titin Deficiency-Induced Cardiac Remodeling: Insights from Human iPSC Models.Medicines (Basel, Switzerland) · 2025Article
- Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.Journal of the American Heart Association · 2025Article
- Molecular Diagnostics in Heart Failure: From Biomarkers to Personalized Medicine.Diagnostics (Basel, Switzerland) · 2025Review
- Investigating the dual role of mitochondrial and nuclear genome variants in pediatric cardiomyopathies.Scientific reports · 2025Article
- Article
- TTN:c.12478del in proximal I-band of titin represents a common molecular cause of dilated cardiomyopathy in Slovenian patients.Orphanet journal of rare diseases · 2025Article
- [Autosomal recessive limb-girdle muscular dystrophy-10. Case report].Revista medica del Instituto Mexicano del Seguro Social · 2025Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The giant protein titin (TTN) is a sarcomeric protein that forms the myofibrillar backbone for the components of the contractile machinery which plays a crucial role in muscle disorders and cardiomyopathies. Diagnosing TTN pathogenic variants has important implications for patient management and genetic counseling. Genetic testing for TTN variants can help identify individuals at risk for developing cardiomyopathies, allowing for early intervention and personalized treatment strategies. Furthermore, identifying TTN variants can inform prognosis and guide therapeutic decisions. Deciphering the intricate genotype-phenotype correlations between TTN variants and their pathologic traits in cardiomyopathies is imperative for gene-based diagnosis, risk assessment, and personalized clinical management. With the increasing use of next-generation sequencing (NGS), a high number of variants in the TTN gene have been detected in patients with cardiomyopathies. However, not all TTN variants detected in cardiomyopathy cohorts can be assumed to be disease-causing. The interpretation of TTN variants remains challenging due to high background population variation. This narrative review aimed to comprehensively summarize current evidence on TTN variants identified in published cardiomyopathy studies and determine which specific variants are likely pathogenic contributors to cardiomyopathy development.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.