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.
Results
Showing 1 to 20 of 98 for “"Functional Effects"”.
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Massively parallel analysis of the functional effects of mutations
… parallel assays and analysis to study the functional effects of mutations on both coding and non-coding sequences, and I describe many methods for creating large libraries of variants for using these assays. I then describe two studies applying massively parallel assays to address questions …
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Computational personal genomics : understanding the functional effects of sequence variation
… that are observed in humans. Sequencing-based functional genomics assays provide unique insight into this problem by allowing direct observation of differences between homologous chromosomes in, for example, gene expression, transcription factor binding, or chromatin state. In this thesis, we …
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Distinct functional effects of NMDA receptors in normal and leukaemic megakaryocytes
… objective of this thesis was to characterise the functional role of NMDARs in both normal and leukaemic megakaryocytes. Most of our studies were conducted using three human megakaryocytic cell lines, Meg-01, Set-2 and K-562 that served as models of leukaemic megakaryoblasts. We have characterised …
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Network approaches to understanding the functional effects of focal brain lesions
Complex network models of functional connectivity have emerged as a paradigm shift in brain mapping over the past decade. Despite significant attention within the neuroimaging and cognitive neuroscience communities, these approaches have hitherto not been extensively explored in neurosurgery. The …
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Functional Effects of Calcium Regulation of Thin Filaments at Single Particle Resolution
… filament activation, we studied the binding and functional properties of Tn and Tm to F-actin at single particle resolution by employing fluorescence image colocalization, in vitro motility assays, and Förster resonance energy transfer based on fluorescence lifetime imaging (FLIM-FRET). Our …
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Investigation of the functional effects of two novel ampakines in the CNS
… main aim of this thesis was to investigate the functional actions of two novel Ampakines, Org 26576 and Org 24448, in the mouse brain. The studies described in this thesis were designed to address this and are outlined as follows: 1. Characterisation and validation of an in vivo …
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Predicting the Functional Effects of Human Short Variations Using Hidden Markov Models
… and deletions. Of great research interest is the functional effects of these variants. Although many programs have been developed to predict the effect of SNPs, few can be used to predict the effect of indels or multiple variants, such as multiple SNPs, multiple indels, or a combination of both. …
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Structural and functional effects of histone variant, H2A.Bbd, on the nucleosome core particle
In eukaryotic cells, DNA is packaged into a protein-DNA assembly called chromatin. The basic subunit of chromatin is the nucleosome core, which is composed of 147 base pair (bp) of DNA wrapped in 1.65 turns around a histone octamer containing two copies each of the four core histone proteins (H2A, …
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Investigating the functional effects of genes involved in genital divergence between Drosophila species
… conducted. It was found that males with only a functional copy of the D. mauritiana trn allele, that carry larger claspers with more sensory bristles, copulate for significantly less time than those with the functional D. simulans trn allele. Males with a functional D. mauritiana sox21b allele, …
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The functional effects of barium and hypoxia on the in vitro respiratory activity
The hypoxic respiratory response in mammals consists of a transit increase in the respiratory frequency (augmentation phase) followed by a decrease in frequency (depression phase). To understand how the central respiratory system contributes to this response, the in vitro transverse brainstem slice …
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Structural and Functional Effects in Solutions With Pure and Entrainer-Doped Supercritical Solvents
The structural dependence of the solubility of nonvolatile compounds in compressed supercritical fluids has been investigated. Within pure, nonpolar supercritical solvents the predominant factor determining solubility is the volatility of the solute at the solution temperature. Of secondary …
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Evaluating the functional effects, morbidity, recurrence, survival and quality of life after curative treatment for rectal cancer
… for rectal cancer can be associated with rectal functional impairment, increased morbidity and may impact quality of life. Restorative surgery is the preferred choice of surgery, but in some circumstances, surgery with a permanent stoma is required to ensure tumour clearance. While the aim of …
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Evaluation of Select Publicly Available in Silico Methods for Predicting Functional Effects of Missense Mutations in the GALNS Gene
… is how well these in silico methods predict the effects of new mutations, i.e., mutations not included in the dataset(s) used for training and testing the in silico method. To address this question, we examined mutations associated, or potentially associated, with Morquio A (MPS IVA), a rare, …
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Functional effects of cytochrome P450 variants on drug metabolism and adverse drug reactions: developing and extending high throughput P450 protein technology platforms
… to its medical importance. Investigating the effects of these enzymes on drugs by metabolite detection and kinetic studies is a step forward to the vision of personalised medicine. The enzyme family is known to be associated with the development of adverse drug reactions which are usually only …
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Understanding neurodegenerative disease-relevant molecular effects of perturbagens using a multi-omics approach
… of cellular pathways that are dysfunctional in these diseases is key for therapeutic development. Chemical and genetic perturbagens can probe cellular pathways to shed insight about both disease etiology and potential therapeutic targets. We analyzed the functional effects of …
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The effects of osteoarthritis, acute voluntary inactivity and injury on skeletal muscle function, Na+, K+ -ATPase content and isoform abundance
… reduction in physical activity. The detrimental functional effects seen in osteoarthritis and ACL injury may be partially attributable to physical inactivity. Hence, this thesis investigated the effects of several conditions and interventions that involve physical inactivity, including knee …
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Intrinsic Features of the Multisensory Cortical Area LRSS in the Ferret
… most studies of multisensory processing examine functional effects, none have evaluated the influence of local or columnar circuitry. The goal of the present study is to examine of local features of the ferret lateral rostral suprasylvian sulcus (LRSS), a multisensory cortex. Immunostaining …
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A Pilot Study on the Evaluation of Short Term Effects of Jasper Jumper Therapy
… were compared to determine the cephalometric effects seen in this group of patients. All patients in this study exhibited mesofacial to brachyfacial growth patterns and were all of growing age. All patients were treated to Class I along the complete buccal segment. The results yielded the …
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Metric Conflict in the Brandenburg Concertos of J. S. Bach
… with other structural parameters, and functional effects. The relationship between metric conflict and fluctuations in the depth of metric hierarchy is examined in detail. Some cases of metric displacement and metric irregularity are examined, when they form part of the context for …
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The Effects of Methyltransferase Genes on Human Haematopoietic Stem Cell Function
… atherosclerosis and cardiovascular disease. The functional effects of these clonal expansions remain to be thoroughly investigated in primary human HSCs. In this thesis, I have focused on 2 methyltransferase genes, PRMT5 and DNMT3A, which are both epigenetic modulators of HSC function. …
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