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
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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
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
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
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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
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Molecular Therapy: Nucleic Acids, 2021 Facioscapulohumeral muscular dystrophy (FSHD) arises from epigenetic changes that de-repress the DUX4 gene in muscle. The full-length DUX4 protein causes cell death and muscle toxicity, and therefore we hypothesize that FSHD therapies should center on ...
Afrooz Rashnonejad +4 more
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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
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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 +4 more
doaj +4 more sources
Human Umbilical Vein Endothelial Cells Express the DUX4 Protein: A Basis for Further Vascular Research [PDF]
Türk Patoloji DergisiObjective: A growing body of evidence suggests a correlation between endothelial cell dysfunction and cancer, as well as facioscapulohumeral dystrophy, both of which are DUX4-related diseases. However, the endogenous expression of DUX4 within endothelial
Ceren HANGUL +5 more
doaj +2 more sources
Transgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD). [PDF]
PLoS ONE, 2016 Facioscapulohumeral muscular dystrophy (FSHD) is typically an adult onset dominant myopathy. Epigenetic changes in the chromosome 4q35 region linked to both forms of FSHD lead to a relaxation of repression and increased somatic expression of DUX4-fl ...
Takako I Jones +2 more
doaj +5 more sources