p53-independent DUX4 pathology in cell and animal models of facioscapulohumeral muscular dystrophy [PDF]
Disease Models & Mechanisms, 2017 Facioscapulohumeral muscular dystrophy (FSHD) is a genetically dominant myopathy caused by mutations that disrupt repression of the normally silent DUX4 gene, which encodes a transcription factor that has been shown to interfere with myogenesis when ...
Darko Bosnakovski +7 more
doaj +8 more sources
Rapid Identification of DUX4::IGH Fusion in Acute Lymphoblastic Leukemia [PDF]
eJHaemIntroduction DUX4 is rearranged and overexpressed in a subgroup of acute lymphoblastic leukemia (ALL) with B‐precursor phenotype, with a favorable outcome.
Kyoko Moritani +13 more
doaj +3 more sources
The FSHD atrophic myotube phenotype is caused by DUX4 expression. [PDF]
PLoS ONE, 2011 BACKGROUND:Facioscapulohumeral muscular dystrophy (FSHD) is linked to deletions in 4q35 within the D4Z4 repeat array in which we identified the double homeobox 4 (DUX4) gene.
Céline Vanderplanck +8 more
doaj +7 more sources
A Deoxyribonucleic Acid Decoy Trapping DUX4 for the Treatment of Facioscapulohumeral Muscular Dystrophy [PDF]
Molecular Therapy: Nucleic Acids, 2020 Facioscapulohumeral dystrophy (FSHD) is characterized by a loss of repressive epigenetic marks leading to the aberrant expression of the DUX4 transcription factor. In muscle, DUX4 acts as a poison protein though the induction of multiple downstream genes.
Virginie Mariot +5 more
doaj +5 more sources
Temporal variation in p38-mediated regulation of DUX4 in facioscapulohumeral muscular dystrophy [PDF]
Scientific ReportsFacioscapulohumeral muscular dystrophy (FSHD) is a degenerative muscle disease caused by loss of epigenetic silencing and ectopic reactivation of the embryonic double homeobox protein 4 gene (DUX4) in skeletal muscle.
Rajanikanth Vangipurapu +3 more
doaj +3 more sources
Transcription factor 12‐mediated self‐feedback regulatory mechanism is required in DUX4 fusion leukaemia [PDF]
Clinical and Translational Medicine, 2023 Background IGH::DUX4 is frequently observed in 4% B‐cell acute lymphoblastic leukaemia patients. Regarding the IGH::DUX4‐driven transactivation and alternative splicing, which are the main reasons behind this acute leukaemia outbreak, it remains unclear ...
Zhihui Li +8 more
doaj +2 more sources
Proximity ligation assay to detect DUX4 protein in FSHD1 muscle: a pilot study [PDF]
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 +2 more sources
Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei. [PDF]
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 +2 more sources
Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. [PDF]
PLoS Genetics, 2010 Each unit of the D4Z4 macrosatellite repeat contains a retrotransposed gene encoding the DUX4 double-homeobox transcription factor. Facioscapulohumeral dystrophy (FSHD) is caused by deletion of a subset of the D4Z4 units in the subtelomeric region of ...
Lauren Snider +10 more
doaj +8 more sources
DUX4 at 25: how it emerged from “junk DNA” to become the cause of facioscapulohumeral muscular dystrophy [PDF]
Skeletal MuscleDouble Homeobox 4 (DUX4) is a potent transcription factor encoded by a retrogene mapped in D4Z4 repeated elements on chromosome 4q35. DUX4 has emerged as pivotal in the pathomechanisms of facioscapulohumeral muscular dystrophy (FSHD), a relatively common
Alexandra Belayew +2 more
doaj +2 more sources