Molecular Therapy: Nucleic Acids, 2021 Facioscapulohumeral muscular dystrophy (FSHD) arises from epigenetic changes that de-repress the DUX4 gene in muscle. The full-length DUX4 protein causes cell death and muscle toxicity, and therefore we hypothesize that FSHD therapies should center on ...
Afrooz Rashnonejad +4 more
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A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy. [PDF]
PLoS ONE, 2018 The Double homeobox 4 (DUX4) gene is an important regulator of early human development and its aberrant expression is causal for facioscapulohumeral muscular dystrophy (FSHD).
Takako Jones, Peter L Jones
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DUX4 expression in cancer induces a metastable early embryonic totipotent program
Cell Reports, 2023 Summary: The transcription factor DUX4 regulates a portion of the zygotic gene activation (ZGA) program in the early embryo. Many cancers express DUX4 but it is unknown whether this generates cells similar to early embryonic stem cells.
Andrew A. Smith +8 more
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DUX4 expression in development versus disease: DUX4 expression in spermatogenesis, placentation, cancer and FSHD [PDF]
, 2023 Thesis (Ph.D.)--University of Washington, 2023DUX4 is a pioneer transcription factor that drives zygotic gene activation (ZGA) in the early embryo. DUX4 is also the causative gene of facioscapulohumeral dystrophy (FSHD).
Smith, Andrew A
core
DUX4 Pathological Expression: Causes and Consequences in Cancer [PDF]
Trends in Cancer, 2019 DUX4, a double homeobox transcription factor, has been mostly studied in facioscapulohumeral dystrophy (FSHD), a pathology linked to a deletion of subtelomeric repeats on chromosome 4q. More recently, however, the gene has been associated with various sarcomas and haematological malignancies.
Carla Dib +6 more
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Multiple protein domains contribute to nuclear import and cell toxicity of DUX4, a candidate pathogenic protein for facioscapulohumeral muscular dystrophy. [PDF]
PLoS ONE, 2013 DUX4 (Double Homeobox Protein 4) is a nuclear transcription factor encoded at each D4Z4 unit of a tandem-repeat array at human chromosome 4q35. DUX4 constitutes a major candidate pathogenic protein for facioscapulohumeral muscular dystrophy (FSHD), the ...
Edgardo Daniel Corona +3 more
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Human Umbilical Vein Endothelial Cells Express the DUX4 Protein: A Basis for Further Vascular Research [PDF]
Türk Patoloji DergisiObjective: A growing body of evidence suggests a correlation between endothelial cell dysfunction and cancer, as well as facioscapulohumeral dystrophy, both of which are DUX4-related diseases. However, the endogenous expression of DUX4 within endothelial
Ceren HANGUL +5 more
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Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence [PDF]
Trends in Molecular Medicine, 2011 Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) has an unusual pathogenic mechanism. FSHD is caused by deletion of a subset of D4Z4 macrosatellite repeat units in the subtelomere of chromosome 4q. Recent studies provide compelling evidence that a retrotransposed gene in the D4Z4 repeat, DUX4, is expressed in the human germline and then
Maarel, S.M. van der +2 more
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Deregulation of DUX4 and ERG in acute lymphoblastic leukemia [PDF]
Nature Genetics, 2016 Chromosomal rearrangements deregulating hematopoietic transcription factors are common in acute lymphoblastic leukemia (ALL).1,2 Here, we show that deregulation of the homeobox transcription factor gene DUX4 and the ETS transcription factor gene ERG are hallmarks of a subtype of B-progenitor ALL that comprises up to 7% of B-ALL.
Jinghui Zhang +75 more
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G-quadruplex ligands mediate downregulation of DUX4 expression [PDF]
, 2020 Abnormal DUX4 expression in skeletal muscles plays a key role in facioscapulohumeral muscular dystrophy (FSHD) pathogenesis, although the molecular mechanisms regulating DUX4 expression are not fully defined.
Ciszewski, Lukasz +7 more
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