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 +2 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 +2 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 +3 more sources
miRNA expression in control and FSHD fetal human muscle biopsies.
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
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
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
Development and Validation of a Deep Learning-Based Facial Weakness Score for Objective Assessment in Facioscapulohumeral Muscular Dystrophy. [PDF]
Muscle NerveABSTRACT Introduction/Aims Facioscapulohumeral muscular dystrophy (FSHD) is a muscle disease that leads, among other manifestations, to facial weakness. This weakness can severely impact communication and quality of life, yet it remains under‐researched with limited objective clinical measures.
Loonen TGJ +9 more
europepmc +2 more sources
Electrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular Dystrophy. [PDF]
Ann NeurolObjective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months.
Mul K +15 more
europepmc +2 more sources
An in silico FSHD muscle fiber for modeling DUX4 dynamics and predicting the impact of therapy
eLife, 2023 Facioscapulohumeral muscular dystrophy (FSHD) is an incurable myopathy linked to the over-expression of the myotoxic transcription factor DUX4. Targeting DUX4 is the leading therapeutic approach, however, it is only detectable in 0.1–3.8% of FSHD ...
Matthew V Cowley +4 more
doaj +1 more source
Disease Models & Mechanisms, 2021 Facioscapulohumeral muscular dystrophy (FSHD) is caused by misexpression of DUX4 in skeletal myocytes. As DUX4 is the key therapeutic target in FSHD, surrogate biomarkers of DUX4 expression in skeletal muscle are critically needed for clinical trials ...
Andreia M. Nunes +3 more
doaj +1 more source