Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 6 of 6 for “"Facioscapulohumeral muscular dystrophy (FSHD)"”.
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Altered FRG1 Levels During Xenopus Laevis Development Leads to Muscular and Vascular Phenotypes Supporting a Role for the Misregulation of FRG1 in FSHD
The genetic lesion diagnostic for facioscapulohumeral muscular dystrophy (FSHD) results in an epigenetic misregulation of gene expression, which in turn is what ultimately leads to the disease pathology. FRG1 (FSHD region gene 1) is a leading candidate gene whose misexpression may lead to FSHD. As …
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Mechanisms of toxicity in cell models of FSHD
… of DUX4 in skeletal muscle as the cause for facioscapulohumeral muscular dystrophy (FSHD). Whereas DUX4 expression normally occurs during early embryonic development, ectopic DUX4 expression is highly toxic in human cells. In my thesis work, using a new cell model with regulated expression of …
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Human FRG1 is an Actin-Bundling and a RNA-Associated Protein with Distinct Subcellular Localizations
Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is critical for development of the vertebrate musculature and vasculature, however its precise molecular function is unknown. Because of its location 125 kb proximal to the FSHD1A lesion, a deletion in a subtelomeric macrosatellite …
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A DE NOVO COMPUTATIONAL DISCOVERY PLATFORM FROM RNA TO PROTEIN
… in human skeletal muscle cells as a model for facioscapulohumeral muscular dystrophy (FSHD). Our results show that misexpression of DUX4, which encodes an embryonic transcription factor, impairs RNA metabolism by inhibiting Nonsense-Mediated Decay, thus leading to the accumulation of incomplete …
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Characterization of C. elegans PAT-9 and FRG-1, which are critical for body wall muscle development
… such as obesity, diabetes, cancer, Duchenne’s muscular dystrophy, and several neurodegenerative diseases. In these studies we used C. elegans to further investigate muscle development and as a model for facioscapulohumeral muscular dystrophy (FSHD) pathophysiology. A previous genetic screen in …
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MODELING FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY USING PRIMARY AND PATIENT-DERIVED INDUCED PLURIPOTENT STEM CELLS
Facioscapulohumeral Muscular Dystrophy (FSHD) is an autosomal dominant degenerative muscle disease with no cure or treatment. The genetic cause of FSHD is the reduction of the copy number of subtelomeric D4Z4 repeats at 4q35 encoding Double Homeobox 4 (DUX4) protein, which is a potent transcription …