Results 91 to 100 of about 5,041 (194)

Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects.: Morphological differentiation defects in FSHD myoblasts

, 2010
International audienceFacioscapulohumeral dystrophy (FSHD) is a muscular hereditary disease with a prevalence of 1 in 20,000 caused by a partial deletion of a subtelomeric repeat array on chromosome 4q.
Flavier, Sébastien, Yegor Vassetzky, Laoudj-Chenivesse, Dalila, Sébastien Flavier, Laoudj-Chenivesse, Dalila, D., Mercier, Jacques, Gilles Carnac, Barro, Marietta, Jacques Mercier, Marietta Barro, Carnac, Gilles, Vassetzky, Yegor, Dalila Laoudj‐Chenivesse   +12 more
core   +1 more source

"Small molecule screen to identify inhibitors of DUX4-mediated toxicity, therapeutic approach for FSHD"

, 2012
Aim 1. To narrow our focus to the most promising direct DUX4 inhibitors. From the current 82 selected compounds which rescue DUX4 toxicity, we will narrow down the list to direct DUX4 inhibitors by means of additional secondary screens.
Bosnakovski, Darko
core  

FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.

, 2004
Contains fulltext : 58455.pdf (Publisher’s version ) (Closed access)BACKGROUND: Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is associated with partial deletion of the subtelomeric D4Z4 repeat array on chromosome ...
Figlewicz, D., Maarel, S.M. van der, Koningsbruggen, S. van, Lemmers, R.J.L.F., Rijkers, T., Deutekom, J.C.T. van, Deidda, G., Padberg, G.W.A.M., Hewitt, J.E., Geel, M. van, Frants, R.R.   +10 more
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WNT pathway alterations in FSHD [PDF]

, 2014
DUX4 is a potent transcription factor that initiates a large gene deregulation cascade in FSHD muscle cells but most of the cellular pathways causing the pathology are still unknown.
Coppée, Frédérique, Vancutsem, Kelly, Charron, Sébastien, Laoudj-Chenivesse, Dalila, Belayew, Alexandra, Carnac, Gilles, Vanderplanck, Céline, Lancelot, Céline   +7 more
core  

Morpholino-mediated Knockdown of DUX4 Toward Facioscapulohumeral Muscular Dystrophy Therapeutics

, 2016
Derepression of DUX4 in skeletal muscle has emerged as a likely cause of pathology in facioscapulohumeral muscular dystrophy (FSHD). Here we report on the use of antisense phosphorodiamidate morpholino oligonucleotides to suppress DUX4 expression and ...
Clayton, Nicholas P., Zhang, Yuanfan, King, Oliver D., Emerson, Charles P. Jr., Chen, Jennifer C. J., Wentworth, Bruce M., Wagner, Kathryn R., Spencer, Carrie   +7 more
core   +1 more source

Combined Lumbar-Sacral Plexus Block in Facioscapulohumeral Muscular Dystrophy for Hip Fracture Surgery: A Case Report

Turkish Journal of Anaesthesiology and Reanimation
Facioscapulohumeral muscular dystrophy (FSHD) is a muscular dystrophy that can affect individuals of all age groups. Its prevalence is reported to be 0.4-1 in 10,000 people. Because of the low occurrence of FSHD, anaesthetic management is primarily based
Mete Manici, İlayda Kalyoncu, Cemil Cihad Gedik, Mehmet Ali Deveci, Yavuz Gürkan   +4 more
doaj   +1 more source

Best gene subset found using the proposed method and LDA as performance measure in FSHD-DB2 (the FSHD-DB2 model).

, 2013
Best gene subset found using the proposed method and LDA as performance measure in FSHD-DB2 (the FSHD-DB2 model).
Lluís A. Belanche-Muñoz (497376), Félix F. González-Navarro (497375), Karen A. Silva-Colón (497377)   +2 more
core   +1 more source

Best gene subset found using the proposed method and LDA as performance measure in FSHD-DB1 (the FSHD-DB1 model).

, 2013
Best gene subset found using the proposed method and LDA as performance measure in FSHD-DB1 (the FSHD-DB1 model).
Lluís A. Belanche-Muñoz (497376), Félix F. González-Navarro (497375), Karen A. Silva-Colón (497377)   +2 more
core   +1 more source

Membrane proteins : putative FSHD biomarkers?

, 2014
Facioscapulohumeral muscular dystrophy (FSHD) is linked to chromatin opening and DNA hypomethylation at the D4Z4 repeat array in the 4q35 subtelomeric region.
Leroy, Baptiste, Wattiez, Ruddy, Coppée, Frédérique, Wauters, Armelle, Laval, Steven, Belayew, Alexandra, Tassin, Alexandra   +6 more
core   +1 more source

Reachable workspace in facioscapulohumeral muscular dystrophy (FSHD) by kinect [PDF]

, 2015
IntroductionA depth-ranging sensor (Kinect) based upper extremity motion analysis system was applied to determine the spectrum of reachable workspace encountered in facioscapulohumeral muscular dystrophy (FSHD).MethodsReachable workspaces were obtained ...
Gregorij Kurillo, Abresch, Richard T, Ruzena Bajcsy, Alina Nicorici, Han, Jay J, Richard T. Abresch, Nicorici, Alina, Bajcsy, Ruzena, Evan de Bie, Jay J. Han, Kurillo, Gregorij, Bie, Evan   +11 more
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