Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

M Richards, F Coppée, N Thomas, A Belayew… - Human genetics, 2012 - Springer
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular
dystrophy after the dystrophinopathies and myotonic dystrophy and is associated with a …

Alternative splicing and muscular dystrophy

M Pistoni, C Ghigna, D Gabellini - RNA biology, 2010 - Taylor & Francis
Alternative splicing of pre-mRNAs is a major contributor to proteomic diversity and to the
control of gene expression in higher eukaryotic cells. For this reasons, alternative splicing is …

Functional muscle impairment in facioscapulohumeral muscular dystrophy is correlated with oxidative stress and mitochondrial dysfunction

A Turki, M Hayot, G Carnac, F Pillard… - Free Radical Biology …, 2012 - Elsevier
Facioscapulohumeral muscular dystrophy (FSHD), the most frequent muscular dystrophy, is
an autosomal dominant disease. In most individuals with FSHD, symptoms are restricted to …

Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD

YD Krom, PE Thijssen, JM Young, B den Hamer… - PLoS …, 2013 - journals.plos.org
Facioscapulohumeral dystrophy (FSHD) is a progressive muscular dystrophy caused by
decreased epigenetic repression of the D4Z4 macrosatellite repeats and ectopic expression …

[HTML][HTML] Testing the effects of FSHD candidate gene expression in vertebrate muscle development

RD Wuebbles, SW Long, ML Hanel… - International journal of …, 2010 - ncbi.nlm.nih.gov
The genetic lesion leading to facioscapulohumeral muscular dystrophy (FSHD) is a
dominant deletion at the 4q35 locus. The generally accepted disease model involves an …

A brain-derived MeCP2 complex supports a role for MeCP2 in RNA processing

SW Long, JYY Ooi, PM Yau, PL Jones - Bioscience reports, 2011 - portlandpress.com
Mutations in MECP2 (methyl-CpG-binding protein 2) are linked to the severe postnatal
neurodevelopmental disorder RTT (Rett syndrome). MeCP2 was originally characterized as …

Facioscapulohumeral muscular dystrophy

AM DeSimone, A Pakula, A Lek… - Comprehensive …, 2011 - Wiley Online Library
ABSTRACT Facioscapulohumeral Muscular Dystrophy is a common form of muscular
dystrophy that presents clinically with progressive weakness of the facial, scapular, and …

DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation

E Ansseau, D Laoudj-Chenivesse, A Marcowycz… - PloS one, 2009 - journals.plos.org
Facioscapulohumeral muscular dystrophy (FSHD) is a dominant disease linked to
contractions of the D4Z4 repeat array in 4q35. We have previously identified a double …

AAV6-mediated systemic shRNA delivery reverses disease in a mouse model of facioscapulohumeral muscular dystrophy

S Bortolanza, A Nonis, F Sanvito, S Maciotta, G Sitia… - Molecular Therapy, 2011 - cell.com
Treatment of dominantly inherited muscle disorders remains a difficult task considering the
need to eliminate the pathogenic gene product in a body-wide fashion. We show here that it …

Reduced expression of FRG1 facilitates breast cancer progression via GM-CSF/MEK-ERK axis by abating FRG1 mediated transcriptional repression of GM-CSF

B Mukherjee, A Tiwari, A Palo, N Pattnaik… - Cell Death …, 2022 - nature.com
Multiple molecular subtypes and distinct clinical outcomes in breast cancer, necessitate
specific therapy. Moreover, despite the improvements in breast cancer therapy, it remains …