Results 1 to 10 of about 2,593 (166)

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   +5 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

Systemic delivery of a DUX4-targeting antisense oligonucleotide to treat facioscapulohumeral muscular dystrophy

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 ...
Silvere Van Der Maarel, Stephen Tapscott, Jessica De Greef   +2 more
exaly   +3 more sources

DUX4 Role in Normal Physiology and in FSHD Muscular Dystrophy

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   +3 more sources

A Deoxyribonucleic Acid Decoy Trapping DUX4 for the Treatment of Facioscapulohumeral Muscular Dystrophy

Molecular Therapy - Nucleic Acids, 2020
Facioscapulohumeral dystrophy (FSHD) is characterized by a loss of repressive epigenetic marks leading to the aberrant expression of the DUX4 transcription factor. In muscle, DUX4 acts as a poison protein though the induction of multiple downstream genes.
Christophe Hourdé, Julie Dumonceaux, Virginie Mariot   +2 more
exaly   +3 more sources

Designed U7 snRNAs inhibit DUX4 expression and improve FSHD-associated outcomes in DUX4 overexpressing cells and FSHD patient myotubes

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 ...
Scott Harper, Afrooz Rashnonejad, Wein N   +2 more
exaly   +3 more sources

Antagonism Between DUX4 and DUX4c Highlights a Pathomechanism Operating Through β-Catenin in Facioscapulohumeral Muscular Dystrophy

Frontiers in Cell and Developmental Biology, 2022
Aberrant expression of the transcription factor DUX4 from D4Z4 macrosatellite repeats on chromosome 4q35, and its transcriptome, associate with pathogenesis in facioscapulohumeral muscular dystrophy (FSHD).
Peter Zammit, Massimo Ganassi, Ganassi Massimo   +2 more
exaly   +3 more sources

Rapid Identification of DUX4::IGH Fusion in Acute Lymphoblastic Leukemia [PDF]

eJHaem
Introduction DUX4 is rearranged and overexpressed in a subgroup of acute lymphoblastic leukemia (ALL) with B‐precursor phenotype, with a favorable outcome.
Kyoko Moritani, Minenori Eguchi‐Ishimae, Mari Tezuka‐Kagajo, Machiko Miyamoto, Mayumi Iwamoto, Sanae Kawakami, Ryota Nakamura, Kozo Nagai, Sawa Tomomatsu, Tsuyoshi Imai, Yasushi Ishida, Hisamichi Tauchi, Eiichi Ishii, Mariko Eguchi   +13 more
doaj   +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