Results 31 to 40 of about 3,790 (193)
DNA-binding sequence specificity of DUX4 [PDF]
Misexpression of the double homeodomain transcription factor DUX4 results in facioscapulohumeral muscular dystrophy (FSHD). A DNA-binding consensus with two tandem TAAT motifs based on chromatin IP peaks has been discovered; however, the consensus has multiple variations (flavors) of unknown relative activity.
Zhang, Yu +7 more
openaire +2 more sources
FredHutch/DUX4-IFNg-ribosome-footprints_Zenodo: Zenodo Release
Ribosome footprint profiling and translation efficiency analysis for the manuscript titled "DUX4 orchestrates translational reprogramming by broadly suppressing translation ...
Chao-Jen Wong
core +1 more source
Aberrant expression of the transcription factor DUX4 from D4Z4 macrosatellite repeats on chromosome 4q35, and its transcriptome, associate with pathogenesis in facioscapulohumeral muscular dystrophy (FSHD).
Massimo Ganassi +4 more
doaj +1 more source
DUX4 Signalling in the Pathogenesis of Facioscapulohumeral Muscular Dystrophy [PDF]
Facioscapulohumeral muscular dystrophy (FSHD) is a disabling inherited muscular disorder characterized by asymmetric, progressive muscle weakness and degeneration. Patients display widely variable disease onset and severity, and sometimes present with extra-muscular symptoms.
Kenji Rowel Q. Lim +2 more
openaire +2 more sources
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 +1 more source
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
Proximity ligation assay to detect DUX4 protein in FSHD1 muscle: a pilot study
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
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent skeletal muscle dystrophies. Skeletal muscle pathology in individuals with FSHD is caused by inappropriate expression of the transcription factor DUX4, which activates different ...
Linde F. Bouwman +9 more
doaj +1 more source
DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophy. [PDF]
Facioscapulohumeral dystrophy (FSHD) is caused by the mis-expression of DUX4 in skeletal muscle cells. DUX4 is a transcription factor that activates genes normally associated with stem cell biology and its mis-expression in FSHD cells results in ...
Melissa L. Conerly (3820843) +23 more
core +1 more source
Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei.
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

