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 11 of 11 for “"genomic deletion"”.
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Analisi molecolare in pazienti italiani con sindrome di Lowe
… mutations (frameshift, nonsense, splice site and genomic deletion), and four were missense mutations. The mutations were distributed in the second half of the gene as previously described in other populations. Our results on the Italian population are similar to the data previously obtained in …
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Causes and Consequences of Genomic Instability in Prostatic Carcinogenesis
… is characterised by a number of particular genomic abnormalities that are predominantly generated in the preneoplastic phase. Whilst there are numerous candidates for the cause of these alterations, telomere dysfunction is thought to be a major contributor. Telomeres are the terminal ends of …
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Analysis of the ammonium assimilation pathways of the human colonic bacterium, bacteroides thetaiotaomicron
… (GS/GOGAT) pathway. To gain insight into the genomic features underlying ammonium uptake and assimilation in this bacterium, comparative transcriptomic analysis using RNA-Seq was employed on cultures growing under excess or limiting ammonium concentrations. A single genomic locus, encoding for …
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Sequence-Dependent & -Independent Effects of Intron-Mediated Enhancement (IME)
… is an essential step in gene expression. Genomic deletion of an intron from a gene tends to reduce its expression, and addition of an intron tends to increase it. This phenomenon, termed Intron-Mediated Enhancement (IME), has been observed in many organisms, genes, and introns. IME can act …
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Retrotransposon-mediated instability in the human genome
… human genome that have the potential to create genomic instability either during the insertion of new elements or through ectopic recombination. However, recent in vitro analyses have demonstrated that these elements also repair DNA double-strand breaks, hence contributing to the maintenance of …
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GUIDE RNA-DEPENDENT AND INDEPENDENT tRNA MODIFICATIONS IN ARCHAEA
… by a unique guide RNA called sR-tMet. We created genomic deletion of <italic>H. volcanii</italic> tRNA<super>Trp</super> intron by homologous recombination based technique, and showed that this strain is viable, and does not demonstrate any observable growth phenotype. However, the corresponding …
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Modeling and Characterization of Dynamic Changes in Biological Systems from Multi-platform Genomic Data
… and external stimuli at the molecular and genomic levels. Building statistical models that characterize such dynamic changes in biological systems is one of the key objectives in bioinformatics and computational biology. Recent advances in high-throughput genomic and molecular profiling …
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Retrotransposon mediated genomic fluidity in the human and chimpanzee lineages
… are associated with human genetic variation and genomic rearrangement. Although they are abundant throughout primate genomes, their propagation strategy remains poorly understood. The recently released human and chimpanzee draft genome sequences provide the opportunity to compare the human genome …
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Investigating the regulation of tumour associated lipogenesis using the model organism, Saccharomyces cerevisiae
… lipid accumulation in stationary phase of genomic deletion strains of key HOG pathway proteins. Deletion of the majority of HOG components had no effect on lipid accumulation. However, the hog1Δ mutant showed a significant decrease in neutral lipids levels when compared to the wildtype. …
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Alu retrotransposition-mediated genomic variation within the primate order
… elements are responsible for introducing genomic diversity on an intra- and inter- species level that is useful in studies of forensic identity, population genetics, and evolutionary biology. In a computational survey of the human sex chromosomes, 344 recently integrated Alu elements were …
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STRUCTURAL AND FUNCTIONAL STUDIES OF ARCHAEAL BOX C/D GUIDE RNA AND ROLE OF A PUTATIVE HUMAN PSEUDOURIDINE SYNTHASE, PUS10 IN APOPTOSIS
… We have created an H. volcanii strain that has a genomic deletion of sR-tMet. The sR-tMet gene is not essential for H. volcanii but this sR-tMet deleted strain lacks the 2’-O-methylation of C34 of its elongator tRNAMet. Unlike the close sR-tMet homologs (sR8 from Methanocaldococcus jannaschii and …