نتایج جستجو برای: facioscapulohumeral muscular dystrophy

تعداد نتایج: 52771  

Journal: :Nauchno-prakticheskii zhurnal «Medicinskaia genetika» 2019

2015
Sandra J. Feeney Meagan J. McGrath Absorn Sriratana Stefan M. Gehrig Gordon S. Lynch Colleen E. D’Arcy John T. Price Catriona A. McLean Rossella Tupler Christina A. Mitchell

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disease with no effective treatment. The genetic cause of FSHD is complex and the primary pathogenic insult underlying the muscle disease is unknown. Several disease candidate genes have been proposed including DUX4 and FRG1. Expression analysis studies of FSHD report the deregulation of genes which mediate myoblast differen...

Journal: :PLoS Genetics 2009
Alexandre Ottaviani Sylvie Rival-Gervier Amina Boussouar Andrea M. Foerster Delphine Rondier Sabrina Sacconi Claude Desnuelle Eric Gilson Frédérique Magdinier

Both genetic and epigenetic alterations contribute to Facio-Scapulo-Humeral Dystrophy (FSHD), which is linked to the shortening of the array of D4Z4 repeats at the 4q35 locus. The consequence of this rearrangement remains enigmatic, but deletion of this 3.3-kb macrosatellite element might affect the expression of the FSHD-associated gene(s) through position effect mechanisms. We investigated th...

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