Results 21 to 30 of about 5,077 (218)

Human Umbilical Vein Endothelial Cells Express the DUX4 Protein: A Basis for Further Vascular Research [PDF]

Türk Patoloji Dergisi
Objective: 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, Dilek BAHAR, Özlem EKINCI, Öznur TOKTA, Yusuf OZKUL, Sibel BERKER KARAUZUM   +5 more
doaj   +2 more sources

DUX4 expression in cancer induces a metastable early embryonic totipotent program

Cell Reports, 2023
Summary: The transcription factor DUX4 regulates a portion of the zygotic gene activation (ZGA) program in the early embryo. Many cancers express DUX4 but it is unknown whether this generates cells similar to early embryonic stem cells.
Andrew A. Smith, Yee Nip, Sean R. Bennett, Danielle C. Hamm, Richard J.L.F. Lemmers, Patrick J. van der Vliet, Manu Setty, Silvère M. van der Maarel, Stephen J. Tapscott   +8 more
doaj   +4 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, Gholamhossein Amini-Chermahini, Noah K. Taylor, Nicolas Wein, Scott Q. Harper   +4 more
doaj   +3 more sources

Iron supplementation alleviates pathologies in a mouse model of facioscapulohumeral muscular dystrophy [PDF]

The Journal of Clinical Investigation
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disease caused by ectopic expression of the toxic protein DUX4, resulting in muscle weakness. However, the mechanism by which DUX4 exerts its toxicity remains unclear.
Kodai Nakamura, Huascar Pedro Ortuste Quiroga, Naoki Horii, Shin Fujimaki, Toshiro Moroishi, Keiichi I. Nakayama, Shinjiro Hino, Yoshihiko Saito, Ichizo Nishino, Yusuke Ono   +9 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, Megan Parilla, Peter L Jones   +2 more
doaj   +5 more sources

A systemically deliverable lipid-conjugated siRNA targeting DUX4 as an facioscapulohumeral muscular dystrophy therapeutic [PDF]

Molecular Therapy: Methods & Clinical Development
Facioscapulohumeral muscular dystrophy (FSHD) is the third most diagnosed muscular dystrophy. The disease is caused by genetic and epigenetic disruptions that result in misexpression of the germline transcription factor DUX4 in skeletal muscle, leading ...
Katelyn Daman, Jing Yan, Annabelle Biscans, Dimas Echeverria, Taisia Shmushkovich, Alexey Wolfson, Julia F. Alterman, Anastasia Khvorova, Charles P. Emerson, Jr.   +8 more
doaj   +2 more sources

SIX transcription factors are necessary for the activation of DUX4 expression in facioscapulohumeral muscular dystrophy [PDF]

Skeletal Muscle
Background Facioscapulohumeral muscular dystrophy (FSHD) is a common and progressive muscle wasting disease that is characterized by muscle weakness often first noticed in the face, the shoulder girdle and upper arms before progressing to the lower limb ...
Amelia Fox, Jonathan Oliva, Rajanikanth Vangipurapu, Francis M. Sverdrup   +3 more
doaj   +2 more sources

A dedicated caller for DUX4 rearrangements from whole-genome sequencing data [PDF]

BMC Medical Genomics
Rearrangements involving the DUX4 gene (DUX4-r) define a subtype of paediatric and adult acute lymphoblastic leukaemia (ALL) with a favourable outcome. Currently, there is no ‘standard of care’ diagnostic method for their confident identification.
Pascal Grobecker, Stefano Berri, John F. Peden, Kai-Jie Chow, Claire Fielding, Ivana Armogida, Helen Northen, David J. McBride, Peter J. Campbell, Jennifer Becq, Sarra L. Ryan, David R. Bentley, Christine J. Harrison, Anthony V. Moorman, Mark T. Ross, Martina Mijuskovic   +15 more
doaj   +2 more sources

P.16.3 DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles [PDF]

Neuromuscular Disorders, 2013
The facio scapulo humeral dystrophy (FSHD) is the third most prevalent muscular dystrophy. 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 development.
Maxime Ferreboeuf, Virginie Mariot, B. Bessières, Alexandre Vasiljevic, Tania Attié‐Bitach, Sophie Collardeau‐Frachon, Stéphane Roche, Frédérique Magdinier, Jérôme D. Robin, Philippe Rameau, Sandra Whalen, Sabrina Sacconi, Vincent Mouly, Gillian Butler‐Browne, Julie Dumonceaux   +14 more
openalex   +4 more sources

DNA-binding sequence specificity of DUX4 [PDF]

Skeletal Muscle, 2015
Misexpression of the double homeodomain transcription factor DUX4 results in facioscapulohumeral muscular dystrophy (FSHD). A DNA-binding consensus with two tandem TAAT motifs based on chromatin IP peaks has been discovered; however, the consensus has multiple variations (flavors) of unknown relative activity.
Erik A. Toso, Hideki Aihara, John K. Lee, Joslynn S. Lee, Matthew Slattery, Michael Kyba, Si Ho Choi, Yu Zhang   +7 more
core   +5 more sources