Results 71 to 80 of about 5,789 (161)
The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy. [PDF]
PLoS Genetics, 2009 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.
Alexandre Ottaviani +8 more
doaj +1 more source
European Journal of Neurology, Volume 33, Issue 8, August 2026.In this proof‐of‐concept study, 3D radiomic texture analysis of quantitative muscle MRI (proton density fat fraction (PDFF, %) maps) distinguished the myogenic disease DM1 from the neurogenic disease CMT1A. Compared with DM1, CMT1A showed higher entropy, contrast, and lower homogeneity, reflecting a reticular vs.
Louise Iterbeke +7 more
wiley +1 more source
Muscle &Nerve, Volume 74, Issue 1, Page 198-206, July 2026.ABSTRACT Introduction/Aims Few studies have investigated nutrition as a primary outcome of disease modifying therapy (DMT) in spinal muscular atrophy (SMA). This study aimed to describe nutrition outcomes of DMT in children with SMA 1 and 2. Methods Children ≤ 18 years old with SMA 1 or 2 treated with DMTs, and untreated children with SMA 1 were ...
Katie O'Brien +5 more
wiley +1 more source
MiRNA modulation in FSHD myogenesis.
, 2014 A) DEseq analysis of miRNAs differentially expressed in FSHD myotubes vs FSHD myoblasts (FSHD differentiation).
Raffaella Meneveri (25726) +6 more
core +1 more source
eLife, 2015 Facioscapulohumeral muscular dystrophy (FSHD) is a muscular dystrophy caused by inefficient epigenetic repression of the D4Z4 macrosatellite array and somatic expression of the DUX4 retrogene.
Qing Feng +6 more
doaj +1 more source
Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers
, 2014 Facioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disorder caused by contractions of repetitive elements within the macrosatellite D4Z4 on chromosome 4q35.
Rahimov, Fedik +6 more
core +1 more source
Preclinical therapy development in FSHD: evaluation of pathophysiological aspects and therapeutic intervention in FSHD mouse models [PDF]
, 2023 Facioscapulohumeral muscular dystrophy (FSHD) is a progressive skeletal muscle disorder that mainly affects the muscles of the face, shoulders and upper arms.
Bouwman, L.F.
core
Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? [PDF]
, 2012 Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy after the dystrophinopathies and myotonic dystrophy and is associated with a typical pattern of muscle weakness.
Richards, Mark +4 more
core +2 more sources
Human Umbilical Vein Endothelial Cells Express the DUX4 Protein: A Basis for Further Vascular Research [PDF]
Türk Patoloji DergisiObjective: A growing body of evidence suggests a correlation between endothelial cell dysfunction and cancer, as well as facioscapulohumeral dystrophy, both of which are DUX4-related diseases. However, the endogenous expression of DUX4 within endothelial
Ceren HANGUL +5 more
doaj +1 more source
Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei.
PLoS Genetics, 2020 FSHD is characterized by the misexpression of DUX4 in skeletal muscle. Although DUX4 upregulation is thought to be the pathogenic cause of FSHD, DUX4 is lowly expressed in patient samples, and analysis of the consequences of DUX4 expression has largely ...
Shan Jiang +8 more
doaj +1 more source