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Non-myogenic mesenchymal cells contribute to muscle degeneration in facioscapulohumeral muscular dystrophy patients
Muscle-resident non-myogenic mesenchymal cells play key roles that drive successful tissue regeneration within the skeletal muscle stem cell niche....
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Meta-analysis towards FSHD reveals misregulation of neuromuscular junction, nuclear envelope, and spliceosome
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common autosomal dominant muscle disorders, yet no cure or amelioration exists. The...
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Hypoxia enhances human myoblast differentiation: involvement of HIF1α and impact of DUX4, the FSHD causal gene
BackgroundHypoxia is known to modify skeletal muscle biological functions and muscle regeneration. However, the mechanisms underlying the effects...
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SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action
Facioscapulohumeral muscular dystrophy (FSHD) is caused by the epigenetic derepression of the 4q-linked D4Z4 macrosatellite repeat resulting in...
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Meeting report: the 2021 FSHD International Research Congress
Facioscapulohumeral muscular dystrophy (FSHD) is the second most common genetic myopathy, characterized by slowly progressing and highly...
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TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype–phenotype correlation
BackgroundLimb-girdle muscular dystrophy R8 (LGMD R8) is a rare autosomal recessive muscle disease caused by TRIM32 gene biallelic defects. The...
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Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism
Facioscapulohumeral muscular dystrophy (FSHD) is among the most common of the muscular dystrophies, affecting nearly 1 in 8000 individuals, and is a...
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Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity
BackgroundAll types of facioscapulohumeral muscular dystrophy (FSHD) are caused by the aberrant activation of the somatically silent DUX4 gene, the...
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The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins
BackgroundWe have previously demonstrated that double homeobox 4 centromeric ( DUX4C ) encoded for a functional DUX4c protein upregulated in...
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Antiapoptotic Protein FAIM2 is targeted by miR-3202, and DUX4 via TRIM21, leading to cell death and defective myogenesis
Inappropriate expression of DUX4, a transcription factor that induces cell death at high levels of expression and impairs myoblast differentiation at...
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The ties that bind: functional clusters in limb-girdle muscular dystrophy
The limb-girdle muscular dystrophies (LGMDs) are a genetically pleiomorphic class of inherited muscle diseases that are known to share phenotypic...
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Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions
Myopathy refers to a large group of heterogeneous, rare muscle diseases. Bulk RNA-sequencing has been utilized for the diagnosis and research of...
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Rare paediatric disorders in Indian healthcare settings with focus on neuromuscular disorders: Diagnostic and management challenges
Rare diseases form the bulk of the financial expenditure of any develo** or developed economy. Among the various rare diseases, paediatric...
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Identifying phenotype-associated subpopulations by integrating bulk and single-cell sequencing data
Single-cell RNA sequencing (scRNA-seq) distinguishes cell types, states and lineages within the context of heterogeneous tissues. However, current...
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Molecular mechanisms and therapeutic strategies for neuromuscular diseases
Neuromuscular diseases encompass a heterogeneous array of disorders characterized by varying onset ages, clinical presentations, severity, and...
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DUX4, a Zygotic Genome Activator, Is Involved in Oncogenesis and Genetic Diseases
AbstractAfter fertilization, the genome is transcriptionally quiescent to allow zygote reprogramming that relies on the RNA and proteins accumulated...
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Systemic cell therapy for muscular dystrophies
The intrinsic regenerative capacity of skeletal muscle makes it an excellent target for cell therapy. However, the potential of muscle tissue to...
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Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice
BackgroundFacioscapulohumeral muscular dystrophy (FSHD) is a skeletal muscle disorder that is caused by derepression of the transcription factor DUX4...
