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
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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 +10 more sources
Biomedicines, 2023 Facioscapulohumeral dystrophy (FSHD) is a muscle disease caused by inappropriate expression of the double homeobox 4 (DUX4) gene in skeletal muscle, and its downstream activation of pro-apoptotic transcriptional programs.
Christopher D. Sarsons +9 more
doaj +2 more sources
Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD
Cells, 2022 Despite the knowledge of the main mechanisms involved in facioscapulohumeral muscular dystrophy (FSHD), the high heterogeneity and variable penetrance of the disease complicate the diagnosis, characterization and genotype–phenotype correlation of ...
Valerio Caputo +8 more
doaj +2 more sources
Association of Diaphragm Involvement Assessed by Ultrasound With Disease Severity in Facioscapulohumeral Muscular Dystrophy. [PDF]
J Cachexia Sarcopenia MuscleABSTRACT Background Respiratory involvement is a comorbidity that should not be overlooked in clinical practice in facioscapulohumeral muscular dystrophy type 1 (FSHD1), with a reported association for severe disease outcomes such as wheelchair dependency.
Xu X +18 more
europepmc +2 more sources
Orphanet Journal of Rare Diseases, 2021 Background The Italian Clinical network for FSHD (ICNF) has established the Italian National Registry for FSHD (INRF), collecting data from patients affected by Facioscapulohumeral dystrophy (FSHD) and their relatives.
Cinzia Bettio +8 more
doaj +2 more sources
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry [PDF]
, 2016 OBJECTIVES: Facioscapulohumeral muscular dystrophy type 1 (FSHD1) has been genetically linked to reduced numbers ( 64 8) of D4Z4 repeats at 4q35. Particularly severe FSHD cases, characterised by an infantile onset and presence of additional extra ...
Ana Nikolić +30 more
openalex +7 more sources
DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation [PDF]
, 2008 Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disease. It maps to the D4Z4 repeat array at 4q35, and correlates with a repeat contraction which derepresses transcription of local genes. Which, if any, of these genes
Darko Bosnakovski +6 more
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FSHD muscle shows perturbation in fibroadipogenic progenitor cells, mitochondrial function and alternative splicing independently of inflammation [PDF]
Human Molecular Genetics, 2023 Facioscapulohumeral muscular dystrophy (FSHD) is a prevalent, incurable myopathy. FSHD is highly heterogeneous, with patients following a variety of clinical trajectories, complicating clinical trials. Skeletal muscle in FSHD undergoes fibrosis and fatty
Elise N. Engquist +5 more
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JMIR Formative Research, 2022 BackgroundFacioscapulohumeral dystrophy (FSHD) is a progressive muscle dystrophy disorder leading to significant disability. Currently, FSHD symptom severity is assessed by clinical assessments such as the FSHD clinical score and ...
Ghobad Maleki +8 more
doaj +1 more source