ArticleProceedings of the National Academy of Sciences of the United States of America2009
Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 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.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Comprehensive multi-cohort transcriptional meta-analysis of muscle diseases identifies a signature of disease severity.Scientific reports · 2022Pooled it
- Review
- Promising Perspective to Facioscapulohumeral Muscular Dystrophy Treatment: Nutraceuticals and Phytochemicals.Current neuropharmacology · 2021Review
- Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease.Antioxidants & redox signaling · 2015Review
- Emerging preclinical animal models for FSHD.Trends in molecular medicine · 2015Review
- Direct interplay between two candidate genes in FSHD muscular dystrophy.Human molecular genetics · 2015Article
- Article
- DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle.Human molecular genetics · 2014Article
- DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy.Skeletal muscle · 2014Article
- Next-generation sequencing analysis of miRNA expression in control and FSHD myogenesis.PloS one · 2014Article
- Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Deciphering transcription dysregulation in FSH muscular dystrophy.Journal of human genetics · 2012Review
- A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function.European journal of human genetics : EJHG · 2012Article
- Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?Human genetics · 2012Review
- Article
- Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles.PloS one · 2012Article
- The Krüppel-like factor 15 as a molecular link between myogenic factors and a chromosome 4q transcriptional enhancer implicated in facioscapulohumeral dystrophy.The Journal of biological chemistry · 2011Article
- RNA interference improves myopathic phenotypes in mice over-expressing FSHD region gene 1 (FRG1).Molecular therapy : the journal of the American Society of Gene Therapy · 2011Article
- Facioscapulohumeral muscular dystrophy region gene 1 is a dynamic RNA-associated and actin-bundling protein.Journal of molecular biology · 2011Article
- DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo.Annals of neurology · 2011Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle disorder that has been associated with a contraction of 3.3-kb repeats on chromosome 4q35. FSHD is characterized by a wide clinical inter- and intrafamilial variability, ranging from wheelchair-bound patients to asymptomatic carriers. Our study is unique in comparing the gene expression profiles from related affected, asymptomatic carrier, and control individuals. Our results suggest that the expression of genes on chromosome 4q is altered in affected and asymptomatic individuals. Remarkably, the changes seen in asymptomatic samples are largely in products of genes encoding several chemokines, whereas the changes seen in affected samples are largely in genes governing the synthesis of GPI-linked proteins and histone acetylation. Besides this, the affected patient and related asymptomatic carrier share the 4qA161 haplotype. Thus, these polymorphisms by themselves do not explain the pathogenicity of the contracted allele. Interestingly, our results also suggest that the miRNAs might mediate the regulatory network in FSHD. Together, our results support the previous evidence that FSHD may be caused by transcriptional dysregulation of multiple genes, in cis and in trans, and suggest some factors potentially important for FSHD pathogenesis. The study of the gene expression profiles from asymptomatic carriers and related affected patients is a unique approach to try to enhance our understanding of the missing link between the contraction in D4Z4 repeats and muscle disease, while minimizing the effects of differences resulting from genetic background.
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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.