Results 1 to 10 of about 3,790 (193)

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, Silvere van der Maarel, Stephen Tapscott   +2 more
exaly   +5 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.
Valeria Runfola, Davide Gabellini, 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 Pandey, Yi-Wen Chen, Hunain Khawaja   +2 more
exaly   +4 more sources

<i>CIC-DUX4</i> Rearranged Gastric Sarcoma Confirmed by Next-Generation Sequencing: A Case Report and Review of Literature. [PDF]

Clin Case Rep
ABSTRACT 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, Takeno A, Higashiura R, Sakakibara Y, Koba M, Hirose Y, Mori K, Hirao M, Mano M, Sakamori R.   +9 more
europepmc   +2 more sources

Analysis of genes regulated by DUX4 via oxidative stress reveals potential therapeutic targets for treatment of facioscapulohumeral dystrophy

Redox Biology, 2021
Muscles of patients with facioscapulohumeral dystrophy (FSHD) are characterized by sporadic DUX4 expression and oxidative stress which is at least partially induced by DUX4 protein. Nevertheless, targeting oxidative stress with antioxidants has a limited
Roman Zinovkin, Anna Schwager, Yinxing Ma   +2 more
exaly   +3 more sources

Chemical inhibition of SUMOylation activates the FSHD locus [PDF]

Scientific Reports
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive and debilitating muscle disease for which no cure currently exists. In the majority of cases, FSHD is associated with the contraction of the D4Z4 macrosatellite repeat array at the 4q35 locus,
Alice Nordlinger, Loéva Morin, Alexandra Andrieux, Jean Philippe Trani, Pierre Perrin, Nathalie Eudes, Anne Bigot, Anne Dejean, Frédérique Magdinier   +8 more
doaj   +2 more sources

DUX4 at 25: how it emerged from “junk DNA” to become the cause of facioscapulohumeral muscular dystrophy [PDF]

Skeletal Muscle
Double Homeobox 4 (DUX4) is a potent transcription factor encoded by a retrogene mapped in D4Z4 repeated elements on chromosome 4q35. DUX4 has emerged as pivotal in the pathomechanisms of facioscapulohumeral muscular dystrophy (FSHD), a relatively common
Alexandra Belayew, Alberto L. Rosa, Peter S. Zammit   +2 more
doaj   +2 more sources

A Systemically Administered Unconjugated Antisense Oligonucleotide Targeting DUX4 Improves Muscular Injury and Motor Function in FSHD Model Mice

Biomedicines, 2023
Facioscapulohumeral muscular dystrophy (FSHD), one of the most common muscular dystrophies, is caused by an abnormal expression of the DUX4 gene in skeletal muscles, resulting in muscle weakness. In this study, we investigated MT-DUX4-ASO, a novel gapmer
Tetsuhiro Kakimoto, Akira Ogasawara, Kiyoshi Ishikawa, Takashi Kurita, Kumiko Yoshida, Shuichi Harada, Taeko Nonaka, Yoshimi Inoue, Keiko Uchida, Takashi Tateoka, Tetsuya Ohta, Shinji Kumagai, Takashi Sasaki, Hajime Aihara   +13 more
doaj   +1 more source

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, Johanna Pruller, Massimo Ganassi, Peter S Zammit, Christopher RS Banerji   +4 more
doaj   +1 more source

Downstream events initiated by expression of FSHD-associated DUX4: Studies of nucleocytoplasmic transport, γH2AX accumulation, and Bax/Bak-dependence

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, Anvitha Sathya, Sachiko Homma, Bess M. Miller, Frederick M. Boyce, Jeffrey Boone Miller   +5 more
doaj   +1 more source