ArticlePloS one2008
A functional role for 4qA/B in the structural rearrangement of the 4q35 region and in the regulation of FRG1 and ANT1 in facioscapulohumeral dystrophy.
Article in PloS one, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 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
25 citing papers in PubMed, 51 citations in OpenAlex.
- Diversity challenges and reconciles genetics in facioscapulohumeral muscular dystrophy.Journal of human genetics · 2025Review
- The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins.Skeletal muscle · 2023Article
- Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy.Scientific reports · 2019Article
- Overexpression of the double homeodomain protein DUX4c interferes with myofibrillogenesis and induces clustering of myonuclei.Skeletal muscle · 2018Article
- Emerging roles of macrosatellite repeats in genome organization and disease development.Epigenetics · 2017Review
- Facioscapulohumeral dystrophy myoblasts efficiently repair moderate levels of oxidative DNA damage.Histochemistry and cell biology · 2016Article
- SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy.Genome research · 2015Article
- ZNF555 protein binds to transcriptional activator site of 4qA allele and ANT1: potential implication in Facioscapulohumeral dystrophy.Nucleic acids research · 2015Article
- Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease.Antioxidants & redox signaling · 2015Review
- Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene.Molecular and cellular biology · 2014Article
- Facioscapulohumeral dystrophy: the path to consensus on pathophysiology.Skeletal muscle · 2014Review
- Defective regulation of microRNA target genes in myoblasts from facioscapulohumeral dystrophy patients.The Journal of biological chemistry · 2013Article
- Facioscapulohumeral muscular dystrophy: Are telomeres the end of the story?Rare diseases (Austin, Tex.) · 2013Article
- A novel molecular mechanism in human genetic disease: a DNA repeat-derived lncRNA.RNA biology · 2012Article
- Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation.Current opinion in neurology · 2012Review
- Article
- 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
- Article
- The cell biology of disease: FSHD: copy number variations on the theme of muscular dystrophy.The Journal of cell biology · 2010Review
- New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?European journal of human genetics : EJHG · 2010Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The number of D4Z4 repeats in the subtelomeric region of chromosome 4q is strongly reduced in patients with Facio-Scapulo-Humeral Dystrophy (FSHD). We performed chromosome conformation capture (3C) analysis to document the interactions taking place among different 4q35 markers. We found that the reduced number of D4Z4 repeats in FSHD myoblasts was associated with a global alteration of the three-dimensional structure of the 4q35 region. Indeed, differently from normal myoblasts, the 4qA/B marker interacted directly with the promoters of the FRG1 and ANT1 genes in FSHD cells. Along with the presence of a newly identified transcriptional enhancer within the 4qA allele, our demonstration of an interaction occurring between chromosomal segments located megabases away on the same chromosome 4q allows to revisit the possible mechanisms leading to FSHD.
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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.