Results 21 to 30 of about 2,593 (166)
An in silico FSHD muscle fiber for modeling DUX4 dynamics and predicting the impact of therapy
eLife, 2023 Facioscapulohumeral muscular dystrophy (FSHD) is an incurable myopathy linked to the over-expression of the myotoxic transcription factor DUX4. Targeting DUX4 is the leading therapeutic approach, however, it is only detectable in 0.1–3.8% of FSHD ...
Matthew V Cowley +4 more
doaj +1 more source
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles [PDF]
Human Molecular Genetics, 2013 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 still unknown. Our aim was to determine whether molecular dysregulations can be identified during FSHD fetal muscle ...
Ferreboeuf, Maxime +16 more
openaire +3 more sources
Biology Open, 2022 Abnormal expression in skeletal muscle of the double homeobox transcription factor DUX4 underlies pathogenesis in facioscapulohumeral muscular dystrophy (FSHD). Though multiple changes are known to be initiated by aberrant DUX4 expression, the downstream
Isabel F. Masteika +5 more
doaj +1 more source
Journal of Medical Sciences, 2022 CIC-DUX4 sarcoma is highly aggressive and rapidly develops lethal metastatic disease and chemoresistance. Its histology is similar to that of Ewing sarcoma and other small round cell sarcomas. Correlation with clinical data, radiological findings, pathological results (including immunohistochemistry and fluorescence in situ ...
Chang-Hung Liao +3 more
openaire +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 +1 more source
Inactivation of the CIC-DUX4 oncogene through P300/CBP inhibition, a therapeutic approach for CIC-DUX4 sarcoma [PDF]
Oncogenesis, 2021 AbstractCIC-DUX4 sarcoma (CDS) is a highly aggressive and metastatic small round type of predominantly pediatric sarcoma driven by a fusion oncoprotein comprising the transcriptional repressor Capicua (CIC) fused to the C-terminal transcriptional activation domain of DUX4.
Darko Bosnakovski +10 more
openaire +3 more sources
DNA-binding sequence specificity of DUX4 [PDF]
Skeletal Muscle, 2015 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
Nature Communications, 2021 Facioscapulohumeral muscular dystrophy is a myopathy caused by aberrant de-repression of the DUX4 gene. Here, the authors show that miR-675 inhibits DUX4 expression and protects muscles from DUX4-mediated cell death when administered to mice using AAV ...
Nizar Y. Saad +7 more
doaj +1 more source
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 +1 more source
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