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 3 of 3 for “"NSD1"”.
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Paraspeckle protein NONO regulates active chromatin by allosterically stimulating NSD1
… Repressive Complex 2 (PRC2) for H3K27me3. NSD1, in particular, plays a crucial role in maintaining euchromatin integrity, and its loss or aberrant activation has been implicated in human congenital disorders, such as Weaver and Sotos syndromes, as well as broad types of cancers, including …
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On the epigenetic ageing clock in humans
… mutations in the H3K36 methyltransferase NSD1, which cause Sotos syndrome, substantially accelerate epigenetic ageing. Furthermore, I show that the normal ageing process and Sotos syndrome share methylation changes and the genomic context in which they happen. These results suggest that …
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Investigation of Copy Number Variation in South African Patients with Congenital Heart Defects
… to be causal for CHD (GATA4, TBX1, FLT4, CRKL, NSD1, and B3GAT3), and four CNVs encompassing candidate genes likely to play a role in the development of CHD (DGCR8, JARID2, KDM2A, and FSTL1). The CNVs were identified in nine unrelated individuals: five of the CNVs were classified as pathogenic …