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
doaj +8 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 +4 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 +4 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
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
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
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 +3 more sources
DUX4 differentially regulates transcriptomes of human rhabdomyosarcoma and mouse C2C12 cells [PDF]
, 2013 Facioscapulohumeral muscular dystrophy (FSHD) is linked to the deletion of the D4Z4 arrays at chromosome 4q35. Recent studies suggested that aberrant expression of double homeobox 4 (DUX4) from the last D4Z4 repeat causes FSHD.
Belayew, Alexandra +3 more
core +4 more sources
WEE1 kinase is a therapeutic vulnerability in CIC-DUX4 undifferentiated sarcoma [PDF]
JCI Insight, 2022 CIC-DUX4 rearrangements define an aggressive and chemotherapy-insensitive subset of undifferentiated sarcomas. The CIC-DUX4 fusion drives oncogenesis through direct transcriptional upregulation of cell cycle and DNA replication genes.
Rovingaile Kriska M. Ponce +4 more
doaj +2 more sources
Dominant Lethal Pathologies in Male Mice Engineered to Contain an X-Linked DUX4 Transgene [PDF]
Cell Reports, 2014 Facioscapulohumeral muscular dystrophy (FSHD) is an enigmatic disease associated with epigenetic alterations in the subtelomeric heterochromatin of the D4Z4 macrosatellite repeat.
Abhijit Dandapat +12 more
doaj +3 more sources