Results 11 to 20 of about 1,867 (154)
Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns. [PDF]
PLoS ONE, 2011 BackgroundDetermine global gene dysregulation affecting 4q-linked (FSHD-1) and non 4q-linked (FSHD-2) cells during early stages of myogenic differentiation.
Stefania Cheli +8 more
doaj +3 more sources
FSHD myotubes with different phenotypes exhibit distinct proteomes. [PDF]
PLoS ONE, 2012 Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle disorder linked to a contraction of the D4Z4 repeat array in the 4q35 subtelomeric region.
Alexandra Tassin +8 more
doaj +3 more sources
Respiratory pattern in a FSHD pediatric population [PDF]
Respiratory Medicine, 2016 Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant inherited disorder characterized by selective weakness of face and upper arms and girdle. Respiratory involvement in FSHD has been described mainly in the most severely affected patients.
TRUCCO, FEDERICA +6 more
openaire +4 more sources
miRNA expression in control and FSHD fetal human muscle biopsies. [PDF]
PLoS ONE, 2015 BACKGROUND:Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disorder and is one of the most common forms of muscular dystrophy. We have recently shown that some hallmarks of FSHD are already expressed in fetal FSHD biopsies, thus ...
Débora Morueco Portilho +11 more
doaj +2 more sources
A simplified approach for FSHD molecular testing [PDF]
Clinica Chimica Acta, 2014 Facioscapulohumeral muscular dystrophy (FSHD) is characterized by complex genetics linked to DNA rearrangements in a polymorphic genomic region of tandemly repeated D4Z4 segments. A panel of FSHD biomarkers including contracted D4Z4 array repeat combined with the 4qA(159/161/168)PAS haplotype has been proposed as molecular signature for defining ...
Frantzeskos Papanikos +7 more
openaire +4 more sources
Gene expression during normal and FSHD myogenesis [PDF]
BMC Medical Genomics, 2011 Background Facioscapulohumeral muscular dystrophy (FSHD) is a dominant disease linked to contraction of an array of tandem 3.3-kb repeats (D4Z4) at 4q35. Within each repeat unit is a gene, DUX4, that can encode a protein containing two homeodomains.
Sowden Janet +8 more
doaj +2 more sources
Meeting report: the 2021 FSHD International Research Congress [PDF]
, 2022 Facioscapulohumeral muscular dystrophy (FSHD) is the second most common genetic myopathy, characterized by slowly progressing and highly heterogeneous muscle wasting with a typical onset in the late teens/early adulthood [1]. Although the etiology of the
Mul, Karlien +9 more
core +2 more sources
Post-Translational Modifications of the DUX4 Protein Impact Toxic Function in FSHD Cell Models [PDF]
, 2023 Objective: Facioscapulohumeral muscular dystrophy (FSHD) is caused by abnormal de-repression of the myotoxic transcription factor DUX4. Although the transcriptional targets of DUX4 are known, the regulation of DUX4 protein and the molecular consequences ...
Freitas, Michael A +13 more
core +2 more sources
Redox Biology, 2022 Facioscapulohumeral muscular dystrophy (FSHD) is characterised by descending skeletal muscle weakness and wasting. FSHD is caused by mis-expression of the transcription factor DUX4, which is linked to oxidative stress, a condition especially detrimental ...
Philipp Heher +12 more
doaj +1 more source
Scientific Reports, 2022 With several therapeutic strategies for facioscapulohumeral muscular dystrophy (FSHD) entering clinical testing, outcome measures are becoming increasingly important.
Anita van den Heuvel +10 more
doaj +1 more source