ArticleNature genetics2008
RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression.
Article in Nature genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03424460 (Venous Thromboembolism in Myotonic Dystrophy Type 1), which is not on this map. Cited by 39 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.
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.
Venous Thromboembolism in Myotonic Dystrophy Type 1
Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 83 citations in OpenAlex.
- Clinical Care Recommendations for Cardiologists Treating Adults With Myotonic Dystrophy.Journal of the American Heart Association · 2020Guideline
- Current Topics of Progressive Cardiac Conduction Disease.Journal of arrhythmia · 2026Review
- RNA cargo profiling of muscle extracellular vesicles identifies candidate biomarkers of disease activity and muscle degeneration in FSHD.Journal of translational medicine · 2026Article
- Studying the Effect of MBNL1 and MBNL2 Loss in Skeletal Muscle Regeneration.International journal of molecular sciences · 2024Article
- Cardiac risk and myocardial fibrosis assessment with cardiac magnetic resonance in patients with myotonic dystrophy.Frontiers in neurology · 2024Article
- Forward genetic screen using a gene-breaking trap approach identifies a novel role ofFrontiers in cell and developmental biology · 2024Article
- Oncometabolite D-2-hydroxyglutarate-dependent metabolic reprogramming induces skeletal muscle atrophy during cancer cachexia.Communications biology · 2023Article
- Cardiac involvement in patient-specific induced pluripotent stem cells of myotonic dystrophy type 1: unveiling the impact of voltage-gated sodium channels.Frontiers in physiology · 2023Article
- Cardiac Involvement and Arrhythmias Associated with Myotonic Dystrophy.Reviews in cardiovascular medicine · 2022Article
- From Mice to Humans: An Overview of the Potentials and Limitations of Current Transgenic Mouse Models of Major Muscular Dystrophies and Congenital Myopathies.International journal of molecular sciences · 2020Review
- Systemic therapy in an RNA toxicity mouse model with an antisense oligonucleotide therapy targeting a non-CUG sequence within the DMPK 3'UTR RNA.Human molecular genetics · 2020Article
- Aberrant Expression of a Non-muscle RBFOX2 Isoform Triggers Cardiac Conduction Defects in Myotonic Dystrophy.Developmental cell · 2020Article
- Non-invasive monitoring of alternative splicing outcomes to identify candidate therapies for myotonic dystrophy type 1.Nature communications · 2018Article
- Bruno-3 regulates sarcomere component expression and contributes to muscle phenotypes of myotonic dystrophy type 1.Disease models & mechanisms · 2018Article
- Antisense oligonucleotides: the next frontier for treatment of neurological disorders.Nature reviews. Neurology · 2018Review
- Co-option of the cardiac transcription factor Nkx2.5 during development of the emu wing.Nature communications · 2017Article
- Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy.Nature communications · 2016Article
- Article
- TWEAK/Fn14, a pathway and novel therapeutic target in myotonic dystrophy.Human molecular genetics · 2015Article
- Right ventricular long noncoding RNA expression in human heart failure.Pulmonary circulation · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
Abstract
Myotonic muscular dystrophy (DM1) is the most common inherited neuromuscular disorder in adults and is considered the first example of a disease caused by RNA toxicity. Using a reversible transgenic mouse model of RNA toxicity in DM1, we provide evidence that DM1 is associated with induced NKX2-5 expression. Transgene expression resulted in cardiac conduction defects, increased expression of the cardiac-specific transcription factor NKX2-5 and profound disturbances in connexin 40 and connexin 43. Notably, overexpression of the DMPK 3' UTR mRNA in mouse skeletal muscle also induced transcriptional activation of Nkx2-5 and its targets. In human muscles, these changes were specific to DM1 and were not present in other muscular dystrophies. The effects on NKX2-5 and its downstream targets were reversed by silencing toxic RNA expression. Furthermore, using Nkx2-5+/- mice, we show that NKX2-5 is the first genetic modifier of DM1-associated RNA toxicity in the heart.
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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.