Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7

CRS Banerji, PS Zammit - EMBO molecular medicine, 2021 - embopress.org
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by progressive skeletal
muscle weakness and wasting. FSHD is linked to epigenetic derepression of the …

Facioscapulohumeral muscular dystrophy

JM Statland, R Tawil - CONTINUUM: Lifelong Learning in …, 2016 - journals.lww.com
Abstract Purpose of Review: This article describes the clinical characteristics, diagnosis,
molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD) …

Conservation and innovation in the DUX4-family gene network

JL Whiddon, AT Langford, CJ Wong, JW Zhong… - Nature …, 2017 - nature.com
Abstract Facioscapulohumeral dystrophy (FSHD; MIM 158900, MIM 158901) is caused by
misexpression of the DUX4 transcription factor in skeletal muscle. Animal models of FSHD …

DUX4 recruits p300/CBP through its C-terminus and induces global H3K27 acetylation changes

SH Choi, MD Gearhart, Z Cui… - Nucleic acids …, 2016 - academic.oup.com
Ectopic expression of the double homeodomain transcription factor DUX4 causes
facioscapulohumeral muscular dystrophy (FSHD). Mechanisms of action of DUX4 are …

Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways

AM Rickard, LM Petek, DG Miller - Human molecular genetics, 2015 - academic.oup.com
Facioscapulohumeral muscular dystrophy (FSHD) is caused by chromatin relaxation that
results in aberrant expression of the transcription factor Double Homeobox 4 (DUX4). DUX4 …

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 …

Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model

D Bosnakovski, SSK Chan, OO Recht… - Nature …, 2017 - nature.com
Facioscapulohumeral muscular dystrophy is a slowly progressive but devastating myopathy
caused by loss of repression of the transcription factor DUX4; however, DUX4 expression is …

A human pluripotent stem cell model of facioscapulohumeral muscular dystrophy-affected skeletal muscles

L Caron, D Kher, KL Lee, R McKernan… - Stem Cells …, 2016 - academic.oup.com
Facioscapulohumeral muscular dystrophy (FSHD) represents a major unmet clinical need
arising from the progressive weakness and atrophy of skeletal muscles. The dearth of …

Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells

S Jagannathan, SC Shadle, R Resnick… - Human Molecular …, 2016 - academic.oup.com
Facioscapulohumeral dystrophy (FSHD) is caused by the mis-expression of the double-
homeodomain transcription factor DUX4 in skeletal muscle cells. Many different cell culture …

[HTML][HTML] A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy

T Jones, PL Jones - PLoS One, 2018 - journals.plos.org
The Double homeobox 4 (DUX4) gene is an important regulator of early human
development and its aberrant expression is causal for facioscapulohumeral muscular …