Results 61 to 70 of about 5,077 (218)

DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation [PDF]

, 2008
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disease. It maps to the D4Z4 repeat array at 4q35, and correlates with a repeat contraction which derepresses transcription of local genes. Which, if any, of these genes
Darko Bosnakovski, Sarah Lamb, Tugba Simsek, Zhaohui Xu, Alexandra Belayew, Rita Perlingeiro, Michael Kyba, Ansseau, Bajard, Buckingham, Celegato, Dixit, Gabellini, Gabellini, Gabriels, Hessabi, Hewitt, Kowaljow, Naviaux, Ostlund, Rudnicki, Tajbakhsh, Weintraub, Wijmenga, Winokur, Winokur, Wright   +26 more
core   +1 more source

Facioscapulohumeral muscular dystrophy: more complex than it appears [PDF]

, 2014
Facioscapulohumeral muscular dystrophy (FSHD) has been classified as an autosomal dominant myopathy, linked to rearrangements in an array of 3.3 kb tandemly repeated DNA elements (D4Z4) located at the 4q subtelomere (4q35).
RICCI, GIULIA, TUPLER, Rossella, Zatz, M
core   +1 more source

Structural basis of DUX4/IGH-driven transactivation [PDF]

Leukemia, 2018
Oncogenic fusions are major drivers in leukemogenesis and may serve as potent targets for treatment. DUX4/IGHs have been shown to trigger the abnormal expression of ERGalt through binding to DUX4-Responsive-Element (DRE), which leads to B-cell differentiation arrest and a full-fledged B-ALL. Here, we determined the crystal structures of Apo- and DNADRE-
Xue Dong, Weina Zhang, Haiyan Wu, Jinyan Huang, Ming Zhang, Pengran Wang, Hao Zhang, Zhu Chen, Sai-Juan Chen, Guoyu Meng   +9 more
openaire   +3 more sources

P38α Regulates Expression of DUX4 in Facioscapulohumeral Muscular Dystrophy [PDF]

The Journal of Pharmacology and Experimental Therapeutics, 2019
ABSTRACTFSHD is caused by the loss of repression at the D4Z4 locus leading to DUX4 expression in skeletal muscle, activation of its early embryonic transcriptional program and muscle fiber death. While progress toward understanding the signals driving DUX4 expression has been made, the factors and pathways involved in the transcriptional activation of ...
Rojas, L. Alejandro, Valentine, Erin, Accorsi, Anthony, Maglio, Joseph, Shen, Ning, Robertson, Alan, Kazmirski, Steven, Rahl, Peter, Tawil, Rabi, Cadavid, Diego, Thompson, Lorin A., Ronco, Lucienne, Chang, Aaron N., Cacace, Angela M., Wallace, Owen   +14 more
openaire   +5 more sources

Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD [PDF]

, 2015
Background: Facioscapulohumeral dystrophy (FSHD) is commonly associated with contraction of the D4Z4 macro-satellite repeat on chromosome 4q35 (FSHD1) or mutations in the SMCHD1 gene (FSHD2).
B Mifsud, C Huichalaf, C Wijmenga, E Lieberman-Aiden, I Dunham, J Dekker, J Winston, KS Pollard, L Daxinger, LM Hartweck, M Larsen, M Richards, M Upadhyaya, MP Creyghton, N Harmston, R Andersson, RE Thurman, RJ Lemmers, RJ Lemmers, RJ Lemmers, S Bhatia, S Sacconi, SE Hamby, SS Rao, TI Jones, W Zeng, Z Yao   +26 more
core   +2 more sources

Genetic analyses of undifferentiated small round cell sarcoma identifies a novel sarcoma subtype with a recurrent CRTC1-SS18 gene fusion [PDF]

, 2018
In recent years, undifferentiated small round cell sarcomas (USRCSs) have been divided into a variety of new, rare, sarcoma subtypes, including the group of Ewing-like sarcomas, which have the morphological appearance of Ewing sarcomas, but carry CIC ...
Antonescu, Antonescu, Bray, Brohl, Cellier, Clark, Conkright, Dobin, Enlund, Ge, Haas, Iourgenko, Kawamura-Saito, Machado, Middeljans, Nielsen, Nordkvist, Pierron, Puls, R Development Core Team, Schram, Skytting, Specht, Sugita, Tirado, Tonon   +25 more
core   +2 more sources

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

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   +1 more source

Cellular and molecular mechanisms underlying muscular dystrophy [PDF]

, 2014
The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core   +1 more source

MATR3 is an endogenous inhibitor of DUX4 in FSHD muscular dystrophy

Cell Reports, 2023
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common neuromuscular disorders and has no cure. Due to an unknown molecular mechanism, FSHD displays overlapping manifestations with the neurodegenerative disease amyotrophic lateral sclerosis (ALS). FSHD is caused by aberrant gain of expression of the transcription factor double homeobox
Valeria Runfola, Roberto Giambruno, Claudia Caronni, Maria Pannese, Annapaola Andolfo, Davide Gabellini   +5 more
openaire   +4 more sources

FSHD muscular dystrophy Region Gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis [PDF]

, 2013
Facioscapulohumeral Muscular Dystrophy (FSHD) is an autosomal dominant myopathy with a strong epigenetic component. It is associated with deletion of a macrosatellite repeat leading to over-expression of the nearby genes. Among them, we focused on FSHD
Bortolanza S, Caccia R, CORONA, Davide, Gabellini D., Godio C, Neguembor MV, Onorati MC, Pistoni M, Schotta G, Xynos A   +9 more
core   +1 more source