Results 51 to 60 of about 5,232 (224)

Conservation and innovation in the DUX4-family gene network [PDF]

Nature Genetics, 2017
Facioscapulohumeral dystrophy (FSHD; MIM158900, MIM158901) is caused by misexpression of the DUX4 transcription factor in skeletal muscle. Animal models of FSHD are hindered by incomplete knowledge regarding the conservation of the DUX4 transcriptional program in other species.
Jennifer L Whiddon, Ashlee T Langford, Chao-Jen Wong, Jun Zhong, Stephen J. Tapscott   +4 more
openalex   +4 more sources

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report [PDF]

, 2016
International audienceBackground: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence of D4Z4 reduction (FSHD2).
Attarian, Shahram, Bartoli, Marc, Bernard, Rafaelle, Campana Salort, Emmanuelle, Chaix, Charlene, Dion, Camille, Dumonceaux, Julie, Gaillard, Marie-Cécile, Lévy, Nicolas, Magdinier, Frédérique, Mariot, Virginie, Mazaleyrat, Kilian, Nguyen, Karine, Puppo, Francesca, Roche, Stéphane, Tasmadjian, Armand, Vovan, Catherine   +16 more
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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

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

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

386. Toxicology for DUX4-Targeted MicroRNAs [PDF]

Molecular Therapy, 2016
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder affecting 1 in 7500. Symptoms typically arise in young adulthood and most patients show clinical features before age 30. FSHD is characterized by progressive wasting and weakness of facial and shoulder-girdle muscles, though all skeletal muscle can be affected.
Lindsay M. Wallace, Jacqueline S. Domire, Danielle A. Griffin, Louise R. Rodino-Klapac, Scott Q. Harper   +4 more
openaire   +1 more source

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

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

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   +3 more sources

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