Results 31 to 40 of about 5,077 (218)

From iPSCs to myotubes: Identifying potential biomarkers for human FSHD by single-cell transcriptomics. [PDF]

Clin Transl Med
Clinical and Translational Medicine, Volume 15, Issue 8, August 2025.
Liu W, Chen H, Jiao J, Zhang Q, Liang D, Huo H, Ji X, Huang M, Hou X, Cao Y, Wu S, Wang Y, Zhang J, Xu Z, Hu P.   +14 more
europepmc   +2 more sources

Inactivation of the CIC-DUX4 oncogene through P300/CBP inhibition, a therapeutic approach for CIC-DUX4 sarcoma [PDF]

Oncogenesis, 2021
AbstractCIC-DUX4 sarcoma (CDS) is a highly aggressive and metastatic small round type of predominantly pediatric sarcoma driven by a fusion oncoprotein comprising the transcriptional repressor Capicua (CIC) fused to the C-terminal transcriptional activation domain of DUX4.
Darko Bosnakovski, Elizabeth T. Ener, Mark S. Cooper, Micah D. Gearhart, Kevin A. Knights, Natalie C. Xu, Christian A. Palumbo, Erik A. Toso, Graham P. Marsh, Hannah J. Maple, Michael Kyba   +10 more
openaire   +4 more sources

Therapeutic Strategies Targeting DUX4 in FSHD [PDF]

Journal of Clinical Medicine, 2020
Facioscapulohumeral muscular dystrophy (FSHD) is a common muscle dystrophy typically affecting patients within their second decade. Patients initially exhibit asymmetric facial and humeral muscle damage, followed by lower body muscle involvement. FSHD is associated with a derepression of DUX4 gene encoded by the D4Z4 macrosatellite located on the ...
Virginie Mariot, Julie Dumonceaux, Julie Dumonceaux, Laura Le Gall, Eva Sidlauskaite   +4 more
openaire   +4 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

CIC-DUX4 sarcomas

Current Opinion in Oncology, 2022
Purpose of review CIC-DUX4 sarcoma (CDS) is a high-grade undifferentiated round cells sarcoma that belongs to the undifferentiated round cell sarcomas family. It represents less than one percent of sarcomas, defining a rarest among rare malignancies. It affects young adults, displaying soft tissue mass.
Brahmi, Mehdi, Vanacker, Helene, Macagno, Nicolas, Tirode, Franck, Dufresne, Armelle   +4 more
openaire   +3 more sources

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

Comment on structural basis of DUX4/IGH-driven transactivation [PDF]

Leukemia, 2018
In a recent issue of Leukemia, Dong et al. reported the crystal structure of an isolated second homeodomain of human DUX4 (DUX4HD2) bound to a double-stranded DNA fragment (strand-1: 5’-TTCTAATCTAATCX-3’, X=A according to Materials and methods of the original paper[1], annealed with strand-2: 5’-AAGATTAGATTAGT-3’, whereas the sequence record of PDB ...
Hideki Aihara, Ke Shi, John K. Lee, Darko Bosnakovski, Michael Kyba   +4 more
openalex   +5 more sources

Relationship of DUX4 and target gene expression in FSHD myocytes

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 Viet Nguyen, Katherine Williams, Miya Ball, Rabi Tawil, Tohru Kiyono, A Mortazavi, Kyoko Yokomori   +8 more
openalex   +6 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 ...
Virginie Mariot, Gillian Butler-Browne, Alexandre Vasiljevic, Vincent Mouly, Tania Attié-Bitach, Tania Attié-Bitach, Sophie Collardeau, Philippe Rameau, Stéphane Roche, Maxime Ferreboeuf, Frédérique Magdinier, Claude Desnuelle, Bettina Bessières, Bettina Bessières, Sabrina Sacconi, Jérôme Robin-Ducellier, Julia Morere, Sandra Whalen, Julie Dumonceaux   +18 more
openaire   +4 more sources

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   +3 more sources