Results 81 to 90 of about 5,041 (194)
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
JCSM Communications, Volume 9, Issue 1, January/June 2026.ABSTRACT Background Muscular dystrophies (MD) are a genetically diverse group of muscle disorders, many of which arise from mutations in genes encoding components of the sarcolemma dystrophin‐associated glycoprotein complex (DGC). Despite their notorious heterogeneity, MDs consistently lead to chronic myofiber weakening, necrosis and loss of muscle ...
Yejin Kang, Pascal Bernatchez
wiley +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
JCSM Communications, Volume 9, Issue 1, January/June 2026.ABSTRACT Quantitative muscle imaging (qMRI) is an established method for detecting muscular changes, particularly in the diagnosis and follow‐up of conditions as muscular injuries and neuromuscular diseases. While global T2 reflects all tissue components and cannot reliably indicate disease activity in fat‐replaced muscles, water T2 times (wT2) can ...
Johanna Thomä +4 more
wiley +1 more source
European Journal of Neurology, Volume 33, Issue 1, January 2026.This study assesses muscle MRI features for the differential diagnosis of patients with distal myopathies and distal hereditary motor neuropathies (dHMNs). A reticular pattern of fat infiltration, together with diffuse and marked involvement of intrinsic foot muscles, emerged as characteristic of dHMNs.
María Payá +14 more
wiley +1 more source
, 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
PLoS Genetics, 2009 Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy in which no mutation of pathogenic gene(s) has been identified. Instead, the disease is, in most cases, genetically linked to a contraction in the number of 3.3 kb D4Z4 ...
Weihua Zeng +17 more
doaj +1 more source
FSHD: a disorder of muscle gene derepression.
, 2004 Facioscapulohumeral muscular dystrophy (FSHD), the third most common myopathy, is an autosomal dominant disease with an insidious onset and progression. Almost all FSHD patients carry deletions of an integral number of tandem 3.3 kb repeats, termed D4Z4,
DAVIDE GABELLINI, TUPLER, Rossella
core
Caveolar proteins: putative FSHD biomarkers?
, 2013 Facioscapulohumeral dystrophy (FSHD) is a degenerative disease of skeletal muscle caused by chromatin opening and DNA hypomethylation at the D4Z4 repeat array in the 4q35 subtelomeric region.
Leroy, Baptiste +6 more
core +1 more source