Global ETD Search
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Showing 1 to 2 of 2 for “"Treacher Collins syndrome"”.
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Characterization of the TCOF1 Gene Using a Neuroblastoma Cell Line and a Mouse Model
Treacher Collins syndrome (TCS) is an autosomal dominant craniofacial development disorder and is caused by mutations in the TCOF1 gene. The TCOFl protein treacle is a nucleolar protein and may function in ribosome biogenesis.Previously, we identified downstream candidate genes using microarray …
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Nucleolar Stress Due to Depletion of Nopp140 in Drosophila melanogaster
… is disrupted. An excellent example is the human Treacher Collins syndrome in which the loss of the nucleolar chaperone, Treacle, leads to p53-dependent apoptosis in embryonic neural crest cells, and ultimately to craniofacial birth defects. We show that depletion of the related nucleolar and …