ReviewPflugers Archiv : European journal of physiology2019
Titin mutations and muscle disease.
Review in Pflugers Archiv : European journal of physiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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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.
The trial behind it
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
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- Influence of genetic biomarkers on cardiac diseases in childhood cancer survivors: a systematic review.The pharmacogenomics journal · 2025Pooled it
- Four New Muscle Myosin II Binding Properties of Titin: Implications for Myofibrillogenesis.Cytoskeleton (Hoboken, N.J.) · 2026Article
- Role of Mechanotransduction in Cancer: A Complex Problem Involving Gene Mutations and Altered Levels of Connection Components.Biomolecules · 2026Review
- DRIVE v3: Command Line Application for Identity-by-Descent Haplotype Clustering in Large Biobank Scale Data.Genetic epidemiology · 2026Article
- Identification of the clinical value and biological effects of TTN mutation in liver cancer.Molecular medicine reports · 2025Article
- Clinical and genomic profiles of malignant peripheral nerve sheath tumors in the craniospinal axis.Journal of neuro-oncology · 2025Article
- Unlocking the secrets of Cardiac development and function: the critical role of FHL2.Molecular and cellular biochemistry · 2025Review
- Case Report: A novel variant of the TTN gene and two other rare variants in a Chinese patient with dilated cardiomyopathy.Frontiers in cardiovascular medicine · 2025Article
- An overview of insights and updates on TTN mutations in cardiomyopathies.Frontiers in pharmacology · 2025Review
- Integrative genomic analysis reveals cancer-associated mutations in patients with ophthalmic tumors.The Journal of international medical research · 2024Article
- Identification of four TTN variants in three families with fetal akinesia deformation sequence.BMC medical genomics · 2024Article
- TTN novel splice variant in familial dilated cardiomyopathy and splice variants review: a case report.Frontiers in cardiovascular medicine · 2024Article
- Cardiomyopathy in cirrhosis: From pathophysiology to clinical care.JHEP reports : innovation in hepatology · 2024Review
- Intracellular remodeling associated with endoplasmic reticulum stress modifies biomechanical compliance of bladder cells.Cell communication and signaling : CCS · 2023Article
- Article
- Machine learning meets Monte Carlo methods for models of muscle's molecular machinery to classify mutations.The Journal of general physiology · 2023Article
- [Recent studies on dilated cardiomyopathy caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Review
- Comprehensive review on gene mutations contributing to dilated cardiomyopathy.Frontiers in cardiovascular medicine · 2023Review
- Article
- N6-methyladenosine-related lncRNAs is a potential marker for predicting prognosis and immunotherapy in ovarian cancer.Hereditas · 2022Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
The introduction of next-generation sequencing technology has revealed that mutations in the gene that encodes titin (TTN) are linked to multiple skeletal and cardiac myopathies. The most prominent of these myopathies is dilated cardiomyopathy (DCM). Over 60 genes are linked to the etiology of DCM, but by far, the leading cause of DCM is mutations in TTN with truncating variants in TTN (TTNtvs) associated with familial DCM in ∼ 20% of the cases. Titin is a large (3-4 MDa) and abundant protein that forms the third myofilament type of striated muscle where it spans half the sarcomere, from the Z-disk to the M-line. The underlying mechanisms by which titin mutations induce disease are poorly understood and targeted therapies are not available. Here, we review what is known about TTN mutations in muscle disease, with a major focus on DCM. We highlight that exon skipping might provide a possible therapeutic avenue to address diseases that arise from TTNtvs.
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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.