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 5 of 5 for “"DUX4"”.
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Interrogating Dux4 Mrna 3′ End Processing
<p>Double Homeobox 4, Dux4, is the leading candidate gene for Facioscapulohumeral Dystrophy (FSHD). FSHD is the third most common muscular dystrophy, and is characterized by progressive muscle weakness primarily in the upper body. In individuals diagnosed with FSHD, Dux4 is inappropriately …
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Mechanisms of toxicity in cell models of FSHD
Current consensus places the mis-expression 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 …
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MODELING FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY USING PRIMARY AND PATIENT-DERIVED INDUCED PLURIPOTENT STEM CELLS
… D4Z4 repeats at 4q35 encoding Double Homeobox 4 (DUX4) protein, which is a potent transcription factor that is toxic to the cell. Contractions lead to loss of repeat-induced silencing, allowing for transcription of DUX4. A common diagnostic method for FSHD shows demethylation of D4Z4 using gDNA of …
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Before and after DUX4: deconstructing its web of silencers and defining its long-term impact on cellular processes
… transcription factor Double Homeobox 4 (DUX4) and an embryonic transcriptional program in skeletal muscle. Mechanisms that initiate and maintain epigenetic repression at the D4Z4 are complex and incompletely understood. Here, I designed a functional silencing reporter system to identify …
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A DE NOVO COMPUTATIONAL DISCOVERY PLATFORM FROM RNA TO PROTEIN
… our pipeline, we characterize the effects of DUX4 activation 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 …