Results 41 to 50 of about 3,423 (190)
Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei.
PLoS Genetics, 2020 FSHD is characterized by the misexpression of DUX4 in skeletal muscle. Although DUX4 upregulation is thought to be the pathogenic cause of FSHD, DUX4 is lowly expressed in patient samples, and analysis of the consequences of DUX4 expression has largely ...
Shan Jiang +8 more
doaj +1 more source
Proximity ligation assay to detect DUX4 protein in FSHD1 muscle: a pilot study
BMC Research Notes, 2022 Objective Aberrant expression in skeletal muscle of DUX4, a double homeobox transcription factor, underlies pathogenesis in facioscapulohumeral muscular dystrophy (FSHD).
Mary Lou Beermann +2 more
doaj +1 more source
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
doaj +1 more source
eLife, 2023 DUX4 activates the first wave of zygotic gene expression in the early embryo. Mis-expression of DUX4 in skeletal muscle causes facioscapulohumeral dystrophy (FSHD), whereas expression in cancers suppresses IFNγ induction of major histocompatibility ...
Amy E Spens +4 more
doaj +1 more source
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
openaire +2 more sources
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
doaj +1 more source
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
doaj +1 more source
P.16.3 DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles [PDF]
Neuromuscular Disorders, 2013 The facio scapulo humeral dystrophy (FSHD) is the third most prevalent muscular dystrophy. The common clinical signs usually appear during the second decade of life but when the first molecular dysregulations occur is still unknown. Our aim was to determine whether molecular dysregulations can be identified during FSHD fetal muscle development.
M. Ferreboeuf +14 more
openaire +1 more source
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
openaire +3 more sources
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
openaire +4 more sources