ReviewNature reviews. Neurology2023
Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy?
Review in Nature reviews. Neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 13 citations in OpenAlex.
- Relationship Between Dp140 Genotype and Cortical Similarity Network Phenotype in Duchenne Muscular Dystrophy: Preliminary T1 Weighted Study.Journal of magnetic resonance imaging : JMRI · 2026Article
- [Construction of a genotype-phenotype database and machine learning models for pseudohypertrophic muscular dystrophy].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- The Development of Spinal Deformity in Patients with Duchenne Muscular Dystrophy: Clinical Assessment, Surgical Considerations and Recommendations for Treatment.Journal of clinical medicine · 2026Review
- Exploring Desmin as a Potential Modifier in Duchenne Muscular Dystrophy-Associated Cardiomyopathy.Acta physiologica (Oxford, England) · 2025Article
- Association ofNeurology. Genetics · 2025Article
- The Incidence of Volatile Anesthesia Porcine Stress Syndrome in Pigs (Sus scrofa domesticus) Gives Implications for Physiology during Anesthesia.Journal of the American Association for Laboratory Animal Science : JAALAS · 2025Article
- A Novel MAO-B/SSAO Inhibitor Improves Multiple Aspects of Dystrophic Phenotype inAntioxidants (Basel, Switzerland) · 2024Article
- A novel biomarker of fibrofatty replacement in dystrophinopathies identified by integrating transcriptome, magnetic resonance imaging, and pathology data.Journal of cachexia, sarcopenia and muscle · 2024Article
- The complex landscape of DMD mutations: moving towards personalized medicine.Frontiers in genetics · 2024Review
- Electrocardiographic and Autonomic Nervous System Changes after Changes in the Posture of Children and Adolescents with Duchenne Muscular Dystrophy.Arquivos brasileiros de cardiologia · 2024Article
- Cellular pathogenesis of Duchenne muscular dystrophy: progressive myofibre degeneration, chronic inflammation, reactive myofibrosis and satellite cell dysfunction.European journal of translational myology · 2023Article
- A fleeting glimpse of functional benefit of the completeMolecular therapy. Nucleic acids · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Patients with Duchenne muscular dystrophy (DMD) show clinically relevant phenotypic variability, despite sharing the same primary biochemical defect (dystrophin deficiency). Factors contributing to this clinical variability include allelic heterogeneity (specific DMD mutations), genetic modifiers (trans-acting genetic polymorphisms) and variations in clinical care. Recently, a series of genetic modifiers have been identified, mostly involving genes and/or proteins that regulate inflammation and fibrosis - processes increasingly recognized as being causally linked with physical disability. This article reviews genetic modifier studies in DMD to date and discusses the effect of genetic modifiers on predicting disease trajectories (prognosis), clinical trial design and interpretation (inclusion of genotype-stratified subgroup analyses) and therapeutic approaches. The genetic modifiers identified to date underscore the importance of progressive fibrosis, downstream of dystrophin deficiency, in driving the disease process. As such, genetic modifiers have shown the importance of therapies aimed at slowing this fibrotic process and might point to key drug targets.
Indexed as
Identifiers
What OpenQuestion holds
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.