ReviewAntioxidants & redox signaling2015
Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease.
Review in Antioxidants & redox signaling, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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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Who cites it
27 citing papers in PubMed, 41 citations in OpenAlex.
- Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy.Annals of clinical and translational neurology · 2026Article
- Adaptive response to electrical pulse stimulation is impaired in FSHD myotubes by DUX4 gene network activation.Scientific reports · 2025Article
- SIX transcription factors are necessary for the activation of DUX4 expression in facioscapulohumeral muscular dystrophy.Skeletal muscle · 2024Article
- Engineered FSHD mutations results in D4Z4 heterochromatin disruption and feedforward DUX4 network activation.iScience · 2024Article
- 3D genome alterations and editing in pathology.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Review
- Whole exome sequencing highlights rare variants inFrontiers in genetics · 2023Article
- Gene Editing to Tackle Facioscapulohumeral Muscular Dystrophy.Frontiers in genome editing · 2022Review
- p38 MAPKs - roles in skeletal muscle physiology, disease mechanisms, and as potential therapeutic targets.JCI insight · 2021Review
- Relationship of DUX4 and target gene expression in FSHD myocytes.Human mutation · 2021Article
- Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy.Clinical genetics · 2020Review
- Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei.PLoS genetics · 2020Article
- Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity.Skeletal muscle · 2020Article
- Clinically Advanced p38 Inhibitors Suppress DUX4 Expression in Cellular and Animal Models of Facioscapulohumeral Muscular Dystrophy.The Journal of pharmacology and experimental therapeutics · 2019Article
- Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.Neurogenetics · 2019Review
- Facioscapulohumeral dystrophy: activating an early embryonic transcriptional program in human skeletal muscle.Human molecular genetics · 2018Review
- Identification of Epigenetic Regulators of DUX4-fl for Targeted Therapy of Facioscapulohumeral Muscular Dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2018Article
- Functional domains of the FSHD-associated DUX4 protein.Biology open · 2018Article
- A multinational study on motor function in early-onset FSHD.Neurology · 2018Article
- A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy.PloS one · 2018Article
- Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
significanceAberrant epigenetic regulation is an integral aspect of many diseases and complex disorders. Facioscapulohumeral muscular dystrophy (FSHD), a progressive myopathy that afflicts individuals of all ages, is caused by disrupted genetic and epigenetic regulation of a macrosatellite repeat. FSHD provides a powerful model to investigate disease-relevant epigenetic modifiers and general mechanisms of epigenetic regulation that govern gene expression. RECENT ADVANCES: In the context of a genetically permissive allele, the one aspect of FSHD that is consistent across all known cases is the aberrant epigenetic state of the disease locus. In addition, certain mutations in the chromatin regulator SMCHD1 (structural maintenance of chromosomes hinge-domain protein 1) are sufficient to cause FSHD2 and enhance disease severity in FSHD1. Thus, there are multiple pathways to generate the epigenetic dysregulation required for FSHD. CRITICAL ISSUES: Why do some individuals with the genetic requirements for FSHD develop disease pathology, while others remain asymptomatic? Similarly, disease progression is highly variable among individuals. What are the relative contributions of genetic background and environmental factors in determining disease manifestation, progression, and severity in FSHD? What is the interplay between epigenetic factors regulating the disease locus and which, if any, are viable therapeutic targets? FUTURE DIRECTIONS: Epigenetic regulation represents a potentially powerful therapeutic target for FSHD. Determining the epigenetic signatures that are predictive of disease severity and identifying the spectrum of disease modifiers in FSHD are vital to the development of effective therapies.
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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.