Results 1 to 10 of about 2,579 (163)
DUX4 Role in Normal Physiology and in FSHD Muscular Dystrophy [PDF]
Cells, 2021 In the last decade, the sequence-specific transcription factor double homeobox 4 (DUX4) has gone from being an obscure entity to being a key factor in important physiological and pathological processes.
Emanuele Mocciaro +2 more
exaly +5 more sources
Culture Conditions Affect Expression of DUX4 in FSHD Myoblasts [PDF]
Molecules, 2015 Facioscapulohumeral muscular dystrophy (FSHD) is believed to be caused by aberrant expression of double homeobox 4 (DUX4) due to epigenetic changes of the D4Z4 region at chromosome 4q35.
Sachchida Nand Pandey +2 more
exaly +5 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
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 +3 more sources
<i>CIC-DUX4</i> Rearranged Gastric Sarcoma Confirmed by Next-Generation Sequencing: A Case Report and Review of Literature. [PDF]
Clin Case RepABSTRACT This case highlights that gastric CIC‐DUX4 rearranged sarcoma is highly aggressive and diagnostically challenging. Early comprehensive genomic profiling was essential for confirming this rare subtype. Despite transient responses to Ewing sarcoma regimens, rapid chemoresistance was observed, emphasizing the need for precise molecular diagnosis ...
Hasegawa H +9 more
europepmc +2 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 +3 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 +3 more sources
DUX4-Induced Histone Variants H3.X and H3.Y Mark DUX4 Target Genes for Expression
Cell Reports, 2019 Summary: The DUX4 transcription factor is briefly expressed in the early cleavage-stage embryo, where it induces an early wave of zygotic gene transcription, whereas its mis-expression in skeletal muscle causes the muscular dystrophy facioscapulohumeral ...
Rebecca Resnick +8 more
doaj +3 more sources
Therapeutic Strategies Targeting DUX4 in FSHD [PDF]
Journal of Clinical Medicine, 2020 Facioscapulohumeral muscular dystrophy (FSHD) is a common muscle dystrophy typically affecting patients within their second decade. Patients initially exhibit asymmetric facial and humeral muscle damage, followed by lower body muscle involvement. FSHD is associated with a derepression of DUX4 gene encoded by the D4Z4 macrosatellite located on the ...
Laura Le Gall +2 more
exaly +4 more sources
Molecular Therapy - Nucleic Acids, 2021 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 +2 more
exaly +3 more sources