Results 81 to 90 of about 5,789 (161)

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

PLoS Genetics, 2009
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy in which no mutation of pathogenic gene(s) has been identified. Instead, the disease is, in most cases, genetically linked to a contraction in the number of 3.3 kb D4Z4 ...
Weihua Zeng, Jessica C de Greef, Yen-Yun Chen, Richard Chien, Xiangduo Kong, Heather C Gregson, Sara T Winokur, April Pyle, Keith D Robertson, John A Schmiesing, Virginia E Kimonis, Judit Balog, Rune R Frants, Alexander R Ball, Leslie F Lock, Peter J Donovan, Silvère M van der Maarel, Kyoko Yokomori   +17 more
doaj   +1 more source

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

, 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
core   +1 more source

FSHD: a disorder of muscle gene derepression.

, 2004
Facioscapulohumeral muscular dystrophy (FSHD), the third most common myopathy, is an autosomal dominant disease with an insidious onset and progression. Almost all FSHD patients carry deletions of an integral number of tandem 3.3 kb repeats, termed D4Z4,
DAVIDE GABELLINI, TUPLER, Rossella
core  

Advances in the development of a methylation assay for FSHD

, 2015
Facioscapulohumeral muscular dystrophy is a disease linked to an epigenetic defect in the chromosome 4q subtelomere. This dystrophy is caused by contraction of the D4Z4 macrosatellite array on chromosome 4qter in FSHD1, or by functional impairment of ...
Lemmers RJ, Deidda G, Calandra P, Galluzzi G, Cascino I, Ricci E, Moretti F, van der Maarel SM, Teveroni E, Monforte M, Tasca G   +10 more
core  

Development of a new methylation assay for FSHD diagnosis

, 2014
FSHD is linked to chromosomal 4q35 region, that contains a D4Z4 array of up to 200 units. The most common form, autosomal dominant FSHD1, is caused by a contraction of the 4q D4Z4 array to less than 11 units, whereas FSHD2 is caused by reduced levels of ...
Lemmers RJ, Deidda G, Calandra P, Galluzzi G, Cascino I, Ricci E, Moretti F, van der Maarel SM, Teveroni E, Monforte M, Tasca G   +10 more
core  

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   +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

Caveolar proteins : putative FSHD biomarkers

, 2015
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, Wauters, Armelle, Laval, Steven, Belayew, Alexandra, Tassin, Alexandra   +5 more
core   +1 more source

Therapeutic Strategy and Clinical Path of Facioscapulohumeral Muscular Dystrophy: Review of the Current Literature

Applied Sciences
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant genetic disease, which is caused by the mistaken expression of double homeobox protein 4 protein 4 (DUX4) in skeletal muscle.
Qi Xie, Guangmei Ma, Yafeng Song
doaj   +1 more source

Respiratory pattern in a FSHD pediatric population

, 2016
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant inherited disorder characterized by selective weakness of face and upper arms and girdle.
FIORILLO, CHIARA, BRUNO, CLAUDIO, BRISCA, GIACOMO, MINETTI, CARLO, PEDEMONTE, MARINA, Tacchetti, Paola, TRUCCO, FEDERICA   +6 more
core   +1 more source