[HTML][HTML] DUX4 role in normal physiology and in FSHD muscular dystrophy

E Mocciaro, V Runfola, P Ghezzi, M Pannese… - Cells, 2021 - mdpi.com
In the last decade, the sequence-specific transcription factor double homeobox 4 (DUX4)
has gone from being an obscure entity to being a key factor in important physiological and …

[HTML][HTML] Facioscapulohumeral dystrophy: the path to consensus on pathophysiology

R Tawil, SM Van Der Maarel, SJ Tapscott - Skeletal muscle, 2014 - Springer
Although the pathophysiology of facioscapulohumeral dystrophy (FSHD) has been
controversial over the last decades, progress in recent years has led to a model that …

A unifying genetic model for facioscapulohumeral muscular dystrophy

RJLF Lemmers, PJ Van der Vliet, R Klooster, S Sacconi… - Science, 2010 - science.org
Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy
in adults that is foremost characterized by progressive wasting of muscles in the upper body …

DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53‐dependent myopathy in vivo

LM Wallace, SE Garwick, W Mei, A Belayew… - Annals of …, 2011 - Wiley Online Library
Objective: Facioscapulohumeral muscular dystrophy (FSHD) is associated with D4Z4 repeat
contraction on human chromosome 4q35. This genetic lesion does not result in complete …

[HTML][HTML] The FSHD atrophic myotube phenotype is caused by DUX4 expression

C Vanderplanck, E Ansseau, S Charron, N Stricwant… - PloS one, 2011 - journals.plos.org
Background Facioscapulohumeral muscular dystrophy (FSHD) is linked to deletions in 4q35
within the D4Z4 repeat array in which we identified the dou ble homeobo x 4 (DUX4) gene …

[HTML][HTML] The 3D genome: from structure to function

TK Mohanta, AK Mishra, A Al-Harrasi - International Journal of Molecular …, 2021 - mdpi.com
The genome is the most functional part of a cell, and genomic contents are organized in a
compact three-dimensional (3D) structure. The genome contains millions of nucleotide …

[HTML][HTML] 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 …

[HTML][HTML] Redox homeostasis in muscular dystrophies

N Mosca, S Petrillo, S Bortolani, M Monforte, E Ricci… - Cells, 2021 - mdpi.com
In recent years, growing evidence has suggested a prominent role of oxidative stress in the
pathophysiology of several early-and adult-onset muscle disorders, although effective …

[HTML][HTML] Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy

N Caruso, B Herberth, M Bartoli, F Puppo… - PLoS …, 2013 - journals.plos.org
Generation of skeletal muscles with forms adapted to their function is essential for normal
movement. Muscle shape is patterned by the coordinated polarity of collectively migrating …

SORBS2 transcription is activated by telomere position effect–over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral …

JD Robin, AT Ludlow, K Batten, MC Gaillard… - Genome …, 2015 - genome.cshlp.org
DNA is organized into complex three-dimensional chromatin structures, but how this spatial
organization regulates gene expression remains a central question. These DNA/chromatin …