Results 1 to 10 of about 5,232 (224)

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

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, Anne-Charlotte Marsollier, Christophe Hourdé, Thomas Voit, Julie Dumonceaux   +5 more
doaj   +5 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   +3 more sources

Functional domains of the FSHD-associated DUX4 protein [PDF]

Biology Open, 2018
Aberrant expression of the full-length isoform of DUX4 (DUX4-FL) appears to underlie pathogenesis in facioscapulohumeral muscular dystrophy (FSHD). DUX4-FL is a transcription factor and ectopic expression of DUX4-FL is toxic to most cells.
Hiroaki Mitsuhashi, Satoshi Ishimaru, Sachiko Homma, Bryant Yu, Yuki Honma, Mary Lou Beermann, Jeffrey Boone Miller   +6 more
doaj   +4 more sources

Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei. [PDF]

PLoS Genetics, 2020
FSHD is characterized by the misexpression of DUX4 in skeletal muscle. Although DUX4 upregulation is thought to be the pathogenic cause of FSHD, DUX4 is lowly expressed in patient samples, and analysis of the consequences of DUX4 expression has largely ...
Shan Jiang, Katherine Williams, Xiangduo Kong, Weihua Zeng, Nam Viet Nguyen, Xinyi Ma, Rabi Tawil, Kyoko Yokomori, Ali Mortazavi   +8 more
doaj   +2 more sources

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

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 ...
Linde F. Bouwman, Bianca den Hamer, Anita van den Heuvel, Marnix Franken, Michaela Jackson, Chrissa A. Dwyer, Stephen J. Tapscott, Frank Rigo, Silvère M. van der Maarel, Jessica C. de Greef   +9 more
doaj   +2 more sources

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. [PDF]

PLoS Genetics, 2010
Each unit of the D4Z4 macrosatellite repeat contains a retrotransposed gene encoding the DUX4 double-homeobox transcription factor. Facioscapulohumeral dystrophy (FSHD) is caused by deletion of a subset of the D4Z4 units in the subtelomeric region of ...
Lauren Snider, Linda N Geng, Richard J L F Lemmers, Michael Kyba, Carol B Ware, Angelique M Nelson, Rabi Tawil, Galina N Filippova, Silvère M van der Maarel, Stephen J Tapscott, Daniel G Miller   +10 more
doaj   +5 more sources

A Real-World Analysis of Outcomes in CIC-Rearranged Sarcomas: A Canadian Sarcoma Research and Clinical Collaboration (CanSaRCC) Study. [PDF]

Cancer Med
Chemotherapy was not associated with improved survival in localized or metastatic CIC‐rearranged sarcoma. Optimizing local control remains essential, and novel systemic therapies are urgently needed. ABSTRACT Introduction CIC‐rearranged sarcomas (CRS) are rare tumors predominantly affecting young adults.
Wittmann Dayagi T, Peretz Soroka H, Smrke A, Deyell RJ, Feng X, Oberoi S, Banerji S, Noujaim J, Prud'homme N, Saleh R, Khan OF, Bush JW, Marwa B, Watson G, Holloway C, Zhang L, Gupta AA, Brzezinski J.   +17 more
europepmc   +2 more sources

Dominant Lethal Pathologies in Male Mice Engineered to Contain an X-Linked DUX4 Transgene [PDF]

Cell Reports, 2014
Facioscapulohumeral muscular dystrophy (FSHD) is an enigmatic disease associated with epigenetic alterations in the subtelomeric heterochromatin of the D4Z4 macrosatellite repeat.
Abhijit Dandapat, Darko Bosnakovski, Lynn M. Hartweck, Robert W. Arpke, Kristen A. Baltgalvis, Derek Vang, June Baik, Radbod Darabi, Rita C.R. Perlingeiro, F. Kent Hamra, Kalpna Gupta, Dawn A. Lowe, Michael Kyba   +12 more
doaj   +3 more sources

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

DUX4 at 25: how it emerged from “junk DNA” to become the cause of facioscapulohumeral muscular dystrophy [PDF]

Skeletal Muscle
Double Homeobox 4 (DUX4) is a potent transcription factor encoded by a retrogene mapped in D4Z4 repeated elements on chromosome 4q35. DUX4 has emerged as pivotal in the pathomechanisms of facioscapulohumeral muscular dystrophy (FSHD), a relatively common
Alexandra Belayew, Alberto L. Rosa, Peter S. Zammit   +2 more
doaj   +2 more sources