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 …
muscle weakness and wasting. FSHD is linked to epigenetic derepression of the …
PAX7 target gene repression is a superior FSHD biomarker than DUX4 target gene activation, associating with pathological severity and identifying FSHD at the single …
CRS Banerji, PS Zammit - Human Molecular Genetics, 2019 - academic.oup.com
Facioscapulohumeral muscular dystrophy (FSHD) is a prevalent, incurable skeletal
myopathy. The condition is linked to hypomethylation of the D4Z4 macrosatellite repeat at …
myopathy. The condition is linked to hypomethylation of the D4Z4 macrosatellite repeat at …
A complex interplay of genetic and epigenetic events leads to abnormal expression of the DUX4 gene in facioscapulohumeral muscular dystrophy
LV Gatica, AL Rosa - Neuromuscular Disorders, 2016 - Elsevier
Facioscapulohumeral muscular dystrophy (FSHD), a prevalent inherited human myopathy,
develops following a complex interplay of genetic and epigenetic events. FSHD1, the more …
develops following a complex interplay of genetic and epigenetic events. FSHD1, the more …
PAX7 target gene repression associates with FSHD progression and pathology over 1 year
CRS Banerji - Human Molecular Genetics, 2020 - academic.oup.com
Facioscapulohumeral muscular dystrophy (FSHD) is a prevalent, inherited skeletal
myopathy linked to hypomethylation of the D4Z4 macrosatellite at chromosome 4q35. This …
myopathy linked to hypomethylation of the D4Z4 macrosatellite at chromosome 4q35. This …
Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions
JM Statland, R Tawil - Current opinion in neurology, 2011 - journals.lww.com
FSHD results from a unique combination of genetic and epigenetic changes on 4q35
leading to release of repression of DUX4, causing disease in a toxic gain-of-function …
leading to release of repression of DUX4, causing disease in a toxic gain-of-function …
[HTML][HTML] Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update
T Schätzl, L Kaiser, HP Deigner - Orphanet Journal of Rare Diseases, 2021 - Springer
Whilst a disease-modifying treatment for Facioscapulohumeral muscular dystrophy (FSHD)
does not exist currently, recent advances in complex molecular pathophysiology studies of …
does not exist currently, recent advances in complex molecular pathophysiology studies of …
[HTML][HTML] DUX4 signalling in the pathogenesis of facioscapulohumeral muscular dystrophy
KRQ Lim, Q Nguyen, T Yokota - International journal of molecular …, 2020 - mdpi.com
Facioscapulohumeral muscular dystrophy (FSHD) is a disabling inherited muscular disorder
characterized by asymmetric, progressive muscle weakness and degeneration. Patients …
characterized by asymmetric, progressive muscle weakness and degeneration. Patients …
Facioscapulohumeral dystrophy: activating an early embryonic transcriptional program in human skeletal muscle
AE Campbell, AE Belleville, R Resnick… - Human molecular …, 2018 - academic.oup.com
Facioscapulohumeral dystrophy (FSHD) is the third most prevalent muscular dystrophy. A
progressive disease, it presents clinically as weakness and wasting of the face, shoulder …
progressive disease, it presents clinically as weakness and wasting of the face, shoulder …
Therapeutic approaches in facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common types of
muscular dystrophy, affecting roughly one in 8000 individuals. The complex underlying …
muscular dystrophy, affecting roughly one in 8000 individuals. The complex underlying …
[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 …
dystrophy after the dystrophinopathies and myotonic dystrophy and is associated with a …