Results 11 to 20 of about 3,790 (193)
p53-independent DUX4 pathology in cell and animal models of facioscapulohumeral muscular dystrophy
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 +4 more sources
Functional domains of the FSHD-associated DUX4 protein [PDF]
Biology Open, 2018 Aberrant expression of the full-length isoform of DUX4 (DUX4-FL) appears to underlie pathogenesis in facioscapulohumeral muscular dystrophy (FSHD). DUX4-FL is a transcription factor and ectopic expression of DUX4-FL is toxic to most cells.
Hiroaki Mitsuhashi +6 more
doaj +5 more sources
CRISPR mediated targeting of DUX4 distal regulatory element represses DUX4 target genes dysregulated in Facioscapulohumeral muscular dystrophy [PDF]
Scientific Reports, 2021 Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating muscle disease that currently does not have an effective cure or therapy. The abnormal reactivation of DUX4, an embryonic gene that is epigenetically silenced in somatic tissues, is causal ...
Sunny Das, Brian P. Chadwick
doaj +4 more sources
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles. [PDF]
Human Molecular Genetics, 2013 International audience: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent adult muscular dystrophies. The common clinical signs usually appear during the second decade of life but when the first molecular dysregulations occur is ...
Sacconi, S +27 more
core +7 more sources
Analysis of DUX4 Expression in Bone Marrow and Re-Discussion of DUX4 Function in the Health and Disease [PDF]
Türk Patoloji Dergisi, 2022 Objective: DUX4 is an embryonic transcription factor (TF) later silenced in somatic tissues, while active in germline testis cells. Re-expression in somatic cells has been revealed to be present in pathologic conditions such as dystrophy, leukemia, and ...
Ceren HANGUL +6 more
doaj +3 more sources
, 2008 By targeting each FSHD candidate gene to a doxycycline-inducible locus in murine C2 myoblasts, we have shown that DUX4 is uniquely toxic, that this toxicity is caused by sensitizing cells to oxidative stress, and that both Pax3 and Pax7 act as dominant
Bosnakovski, Darko, Kyba, Michael
core +4 more sources
DUX4 is a multifunctional factor priming human embryonic genome activation [PDF]
iScience, 2022 Summary: Double homeobox 4 (DUX4) is expressed at the early pre-implantation stage in human embryos. Here we show that induced human DUX4 expression substantially alters the chromatin accessibility of non-coding DNA and activates thousands of newly ...
Sanna Vuoristo +32 more
doaj +2 more sources
The prospects of targeting DUX4 in facioscapulohumeral muscular dystrophy [PDF]
Current Opinion in Neurology, 2020 Purpose of review Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder, which is caused by incomplete repression of the transcription factor double homeobox 4 (DUX4) in skeletal muscle.
Bouwman, Linde F +5 more
core +6 more sources
p53 is not necessary for DUX4 pathology
, 2017 sFSHD is a genetically dominant myopathy caused by mutations that cause expression of the normally silent DUX4 gene. This transcription factor has been shown to interfere with myogenesis when misexpressed at very low levels in myoblasts, and to cause ...
Abhinav K Jain +6 more
core +2 more sources
PLoS Biology, 2023 Translational control is critical for cell fate transitions during development, lineage specification, and tumorigenesis. Here, we show that the transcription factor double homeobox protein 4 (DUX4), and its previously characterized transcriptional ...
Danielle C Hamm +9 more
doaj +2 more sources