ArticlePLoS genetics2013
Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.
Article in PLoS genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers, 2 of them syntheses that pooled it.
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Who cites it
76 citing papers in PubMed, 2 syntheses or guidelines pooled it, 107 citations in OpenAlex.
- p53-independent DUX4 pathology in cell and animal models of facioscapulohumeral muscular dystrophy.Disease models & mechanisms · 2017Pooled it
- β-Catenin is central to DUX4-driven network rewiring in facioscapulohumeral muscular dystrophy.Journal of the Royal Society, Interface · 2015Pooled it
- Transgenic mouse models for investigating human DUX4 expression during development and its roles in FSHD pathophysiology.Disease models & mechanisms · 2026Article
- DUX4 at 25: how it emerged from "junk DNA" to become the cause of facioscapulohumeral muscular dystrophy.Skeletal muscle · 2025Review
- Estrogen rescues muscle regeneration impaired by DUX4 in a humanized xenograft mouse model.Cell death & disease · 2025Article
- Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy.Brain : a journal of neurology · 2025Article
- Ancillary Tools for the Diagnosis of CIC -Rearranged Sarcoma: A Comprehensive Review.Journal of cutaneous pathology · 2025Review
- SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease.Nature communications · 2023Article
- Molecular and Phenotypic Changes in FLExDUX4 Mice.Journal of personalized medicine · 2023Article
- Human DUX4 and porcine DUXC activate similar early embryonic programs in pig muscle cells: implications for preclinical models of FSHD.Human molecular genetics · 2023Article
- Transplantation of PSC-derived myogenic progenitors counteracts disease phenotypes in FSHD mice.NPJ Regenerative medicine · 2022Article
- Canine DUXC: implications for DUX4 retrotransposition and preclinical models of FSHD.Human molecular genetics · 2022Article
- Proximity ligation assay to detect DUX4 protein in FSHD1 muscle: a pilot study.BMC research notes · 2022Article
- The evolution of DUX4 gene regulation and its implication for facioscapulohumeral muscular dystrophy.Biochimica et biophysica acta. Molecular basis of disease · 2022Review
- Systemic delivery of a DUX4-targeting antisense oligonucleotide to treat facioscapulohumeral muscular dystrophy.Molecular therapy. Nucleic acids · 2021Article
- CRISPR/Cas correction of muscular dystrophies.Experimental cell research · 2021Article
- Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7.EMBO molecular medicine · 2021Review
- Systemic antisense therapeutics inhibiting DUX4 expression ameliorates FSHD-like pathology in an FSHD mouse model.Human molecular genetics · 2021Article
- Targeted epigenetic repression by CRISPR/dSaCas9 suppresses pathogenicMolecular therapy. Methods & clinical development · 2021Article
- 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
16 more citing papers are in PubMed but not listed here.
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Authors and funding
17 authors at 6 institutions in 3 countries.
Funding
Abstract
Facioscapulohumeral dystrophy (FSHD) is a progressive muscular dystrophy caused by decreased epigenetic repression of the D4Z4 macrosatellite repeats and ectopic expression of DUX4, a retrogene encoding a germline transcription factor encoded in each repeat. Unaffected individuals generally have more than 10 repeats arrayed in the subtelomeric region of chromosome 4, whereas the most common form of FSHD (FSHD1) is caused by a contraction of the array to fewer than 10 repeats, associated with decreased epigenetic repression and variegated expression of DUX4 in skeletal muscle. We have generated transgenic mice carrying D4Z4 arrays from an FSHD1 allele and from a control allele. These mice recapitulate important epigenetic and DUX4 expression attributes seen in patients and controls, respectively, including high DUX4 expression levels in the germline, (incomplete) epigenetic repression in somatic tissue, and FSHD-specific variegated DUX4 expression in sporadic muscle nuclei associated with D4Z4 chromatin relaxation. In addition we show that DUX4 is able to activate similar functional gene groups in mouse muscle cells as it does in human muscle cells. These transgenic mice therefore represent a valuable animal model for FSHD and will be a useful resource to study the molecular mechanisms underlying FSHD and to test new therapeutic intervention strategies.
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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.