Results 31 to 40 of about 2,593 (166)

DUX4 Signalling in the Pathogenesis of Facioscapulohumeral Muscular Dystrophy [PDF]

International Journal of Molecular Sciences, 2020
Facioscapulohumeral muscular dystrophy (FSHD) is a disabling inherited muscular disorder characterized by asymmetric, progressive muscle weakness and degeneration. Patients display widely variable disease onset and severity, and sometimes present with extra-muscular symptoms.
Kenji Rowel Q. Lim, Quynh Nguyen, Toshifumi Yokota   +2 more
openaire   +2 more sources

Proximity ligation assay to detect DUX4 protein in FSHD1 muscle: a pilot study

BMC Research Notes, 2022
Objective Aberrant expression in skeletal muscle of DUX4, a double homeobox transcription factor, underlies pathogenesis in facioscapulohumeral muscular dystrophy (FSHD).
Mary Lou Beermann, Sachiko Homma, Jeffrey Boone Miller   +2 more
doaj   +1 more source

DUX4 is a multifunctional factor priming human embryonic genome activation

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   +1 more source

A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy. [PDF]

PLoS ONE, 2018
The Double homeobox 4 (DUX4) gene is an important regulator of early human development and its aberrant expression is causal for facioscapulohumeral muscular dystrophy (FSHD).
Takako Jones, Peter L Jones
doaj   +1 more source

Human DUX4 and mouse Dux interact with STAT1 and broadly inhibit interferon-stimulated gene induction

eLife, 2023
DUX4 activates the first wave of zygotic gene expression in the early embryo. Mis-expression of DUX4 in skeletal muscle causes facioscapulohumeral dystrophy (FSHD), whereas expression in cancers suppresses IFNγ induction of major histocompatibility ...
Amy E Spens, Nicholas A Sutliff, Sean R Bennett, Amy E Campbell, Stephen J Tapscott   +4 more
doaj   +1 more source

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   +1 more source

Multiple protein domains contribute to nuclear import and cell toxicity of DUX4, a candidate pathogenic protein for facioscapulohumeral muscular dystrophy. [PDF]

PLoS ONE, 2013
DUX4 (Double Homeobox Protein 4) is a nuclear transcription factor encoded at each D4Z4 unit of a tandem-repeat array at human chromosome 4q35. DUX4 constitutes a major candidate pathogenic protein for facioscapulohumeral muscular dystrophy (FSHD), the ...
Edgardo Daniel Corona, Daniela Jacquelin, Laura Gatica, Alberto Luis Rosa   +3 more
doaj   +1 more source

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.
M. Ferreboeuf, V. Mariot, B. Bessières, A. Vasiljevic, T. Attié-Bitach, S. Collardeau, S. Roche, F. Magdinier, J. Robin-Ducellier, P. Rameau, S. Whalen, S. Sacconi, V. Mouly, G. Butler-Browne, J. Dumonceaux   +14 more
openaire   +1 more source

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   +1 more source

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence [PDF]

Trends in Molecular Medicine, 2011
Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) has an unusual pathogenic mechanism. FSHD is caused by deletion of a subset of D4Z4 macrosatellite repeat units in the subtelomere of chromosome 4q. Recent studies provide compelling evidence that a retrotransposed gene in the D4Z4 repeat, DUX4, is expressed in the human germline and then
Maarel, S.M. van der, Tawil, R., Tapscott, S.J.   +2 more
openaire   +3 more sources