Results 11 to 20 of about 3,423 (190)

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   +3 more sources

The transcription factor DUX4 orchestrates translational reprogramming by broadly suppressing translation efficiency and promoting expression of DUX4-induced mRNAs.

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, Ellen M Paatela, Sean R Bennett, Chao-Jen Wong, Amy E Campbell, Cynthia L Wladyka, Andrew A Smith, Sujatha Jagannathan, Andrew C Hsieh, Stephen J Tapscott   +9 more
doaj   +4 more sources

The FSHD atrophic myotube phenotype is caused by DUX4 expression. [PDF]

PLoS ONE, 2011
BACKGROUND:Facioscapulohumeral muscular dystrophy (FSHD) is linked to deletions in 4q35 within the D4Z4 repeat array in which we identified the double homeobox 4 (DUX4) gene.
Céline Vanderplanck, Eugénie Ansseau, Sébastien Charron, Nadia Stricwant, Alexandra Tassin, Dalila Laoudj-Chenivesse, Steve D Wilton, Frédérique Coppée, Alexandra Belayew   +8 more
doaj   +7 more sources

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles [PDF]

Human Molecular Genetics, 2013
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent adult muscular dystrophies. The common clinical signs usually appear during the second decade of life but when the first molecular dysregulations occur is still unknown. Our aim was to determine whether molecular dysregulations can be identified during FSHD fetal muscle ...
Ferreboeuf, Maxime, Mariot, Virginie, Bessières, Bettina, Vasiljevic, Alexandre, Attié-Bitach, Tania, Collardeau, Sophie, Morere, Julia, Roche, Stéphane, Magdinier, Frédérique, Robin-Ducellier, Jérôme, Rameau, Philippe, Whalen, Sandra, Desnuelle, Claude, Sacconi, Sabrina, Mouly, Vincent, Butler-Browne, Gillian, Dumonceaux, Julie   +16 more
openaire   +5 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.
Virginie Mariot, Romain Joubert, Christophe Hourdé   +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 ...
Afrooz Rashnonejad, Nicolas Wein, Scott Q Harper   +2 more
exaly   +3 more sources

DUX4 is a multifunctional factor priming human embryonic genome activation [PDF]

iScience, 2022
Summary: Double homeobox 4 (DUX4) is expressed at the early pre-implantation stage in human embryos. Here we show that induced human DUX4 expression substantially alters the chromatin accessibility of non-coding DNA and activates thousands of newly ...
Sanna Vuoristo, Shruti Bhagat, Christel Hydén-Granskog, Masahito Yoshihara, Lisa Gawriyski, Eeva-Mari Jouhilahti, Vipin Ranga, Mahlet Tamirat, Mikko Huhtala, Ida Kirjanov, Sonja Nykänen, Kaarel Krjutškov, Anastassius Damdimopoulos, Jere Weltner, Kosuke Hashimoto, Gaëlle Recher, Sini Ezer, Priit Paluoja, Pauliina Paloviita, Yujiro Takegami, Ai Kanemaru, Karolina Lundin, Tomi T. Airenne, Timo Otonkoski, Juha S. Tapanainen, Hideya Kawaji, Yasuhiro Murakawa, Thomas R. Bürglin, Markku Varjosalo, Mark S. Johnson, Timo Tuuri, Shintaro Katayama, Juha Kere   +32 more
doaj   +2 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).
Massimo Ganassi, Nicolas Figeac, Magalie Reynaud   +2 more
exaly   +3 more sources

Relationship of DUX4 and target gene expression in FSHD myocytes [PDF]

Human Mutation, 2021
Facioscapulohumeral dystrophy (FSHD) is associated with the upregulation of the DUX4 transcription factor and its target genes. However, low-frequency DUX4 upregulation in patient myocytes is difficult to detect and examining the relationship and dynamics of DUX4 and target gene expression has been challenging. Using RNAScope in situ hybridization with
Jonathan Chau, Xiangduo Kong, Nam Nguyen, Katherine Williams, Miya Ball, Rabi Tawil, Tohru Kiyono, Ali Mortazavi, Kyoko Yokomori   +8 more
openaire   +5 more sources

The prospects of targeting DUX4 in facioscapulohumeral muscular dystrophy

Current Opinion in Neurology, 2020
Purpose of reviewFacioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder, which is caused by incomplete repression of the transcription factor double homeobox 4 (DUX4) in skeletal muscle. To date, there is no DUX4-targeting treatment to prevent or delay disease progression.
Bouwman, L.F., Maarel, S.M. van der, Greef, J.C. de   +2 more
openaire   +7 more sources