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 20 of 28 for “"Phenotypic characterisation"”.
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Phenotypic characterisation of human iPSC neuronal models of GM2 gangliosidoses
Gangliosides are crucial components on the outer leaflet of the plasma membrane of many cells, especially neurons. Their functions are broad and varied but their high abundance in neurons leaves these cells especially vulnerable to the effects of their accumulation in ganglioside lysosomal storage …
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Genetic and phenotypic characterisation of an Arabidopsis thaliana jasmonic acid signalling mutant, jam2
… tagged lines and characterized genetically and phenotypically. jam2 was found not to be T-DNA tagged as the T-DNA segregates independently of the mutation. jam2 is unlikely to be an anthocyanin biosynthetic mutant but shows delayed anthocyanin accumulation after exogenous MeJA treatment. …
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Phenotypic characterisation of the tremor mutant and AAV mediated aspartoacylase gene transfer in the rat model of Canavan disease
… studies described in this thesis involve the phenotypic characterization of the tremor rat, an animal model of Canavan disease, and a proof of principle gene transfer study in this model. The phenotype of the tremor rat is examined at the genetic, molecular, cellular, neurochemical, physical …
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Phenotypic characterisation of wild type and mutant strains of adherent invasive Escherichia coli and Shigella, in vitro, ex vivo and in vivo models
Crohn's disease (CD) is an inflammatory bowel disease (IBD) that is largely the result of aberrant immune responses, such as the increased production of proinflammatory cytokines including IL-1, TNF-ɑ, IFN- ɣ to microbial infections in genetically susceptible individuals.;Adherent-invasive …
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Lactobacillus paracasei: an evaluation of the flavour diversification potential of the species through genomics, metabolomics and applications
… of flavour. In this project, the genetic and phenotypic diversity of L. paracasei strains and their application as adjunct cultures to support the development of flavour compounds was assessed. The bank of 310 strains investigated in this study consisted of isolates originating from cheese, …
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Cancer Cartography: Mapping Cancer Evolution in Tissue Space
… targeted in situ gene expression allows for the phenotypic characterisation of clones in distinct microanatomical niches. Subsequent analyses across various stages of breast cancer, including carcinoma in situ, invasive cancer, and lymph node metastasis reveal clone-specific variations in …
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Loss of rad51 in zebrafish (Danio rerio): a novel Fanconi anaemia model
… the first viable vertebrate model of RAD51 loss. Phenotypic characterisation of zebrafish rad51 loss-of-function mutants showed that they develop key features of FA, including hypocellular kidney marrow, sensitivity to crosslinking agents and decreased size. Taking advantage of the unique …
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Characterising the response to gliotoxin exposure in Aspergillus fumigatus ΔgliT and ΔgliZ
… of the A. fumigatus genome has allowed for the characterisation of the gliotoxin biosynthetic cluster gli, with previous work illustrating the importance of the thioredoxin reductase gliT in self protection against gliotoxin, regulation of which has been shown to be independent of the …
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Lineage-Specific Phenotypic Abnormalities in iPSC-Derived Smooth Muscle Cells from Type-I Loeys-Dietz Syndrome
… isogenic control iPSCs to model Type-I LDS. Phenotypic characterisation, such as by bulk RNA sequencing, revealed that LM-SMCs have abnormal phenotypes, including impaired TGF-β signalling, irregular expression of extracellular matrix, contractility defect, inability to regulate cell …
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The Role of Thada in Energy Homeostasis
… in primary skeletal muscle cells. Interestingly, phenotypic characterisation of the Thada KO mice has revealed that the genetic ablation of Thada causes an impairment in the maintenance of core body temperature in response to cold exposure. This effect can only be revealed under specific …
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Identification and characterisation of new factors and mechanisms regulating human cytochrome c oxidase biogenesis
… APOPT1 protein in relation with COX biogenesis. Phenotypic characterisation showed COX deficiency in all tissues, associated with neuromuscular impairment, similar to the features found in human individuals carrying mutations in APOPT1, for which two immortalised skin fibroblast cell lines were …
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Population genomics and domestication of the Black Soldier Fly (Hermetia illucens L.)
… After documenting genetic diversity, I performed phenotypic characterisation for several domesticated strains. This work revealed both genotype- and family-environment interactions which suggested a genetic and heritable basis for the high phenotypic variation observed within the species. I next …
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Early liver formation in zebrafish: a molecular and morphological approach
… pancreatic specification and differentiation. Phenotypic characterisation of endodermal organogenesis in 4C1 mutant embryos revealed a requirement for 4C1 in specification of the correct number of hepatic progenitors and hepatic bud morphogenesis. This is accompanied by a subsequent requirement …
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Phenotypic and genotypic characterisation of Clostridium Difficile
… aim of this thesis was to investigate both the phenotypic and genotypic characteristics of two populations of toxigenic clinical isolates of C. difficile which were recovered from two separate hospital trusts within the UK. Phenotypic characterisation of the isolates was undertaken using …
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Measuring the abundance, diversity and overlap of Antimicrobial Resistance genes associated with humans, livestock and the environment in low- and middle-income country settings
… Conventional AMR assessment techniques involve phenotypic characterisation or detection of a limited number of antimicrobial resistance genes (ARGs) using PCR-based techniques. With the inaccessibility of sequencing-based platforms in resource-limited settings, microfluidics-based …
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Functional characterisation of ScIRT1 and ScIREG2 transport proteins in the nickel hyperaccumulator, Senecio coronatus
… clear. In addition to validating homozygosity, phenotypic characterisation, with the aim of developing reliable assays to be used in complementation analysis, was done by growing homozygous mutants and Col-0 in hydroponic media deficient in Fe and supplemented with Ni. The assays revealed that …
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Prediction and surveillance of antigenic variation in influenza and SARS-CoV-2 viruses
… effort to prioritise SARS-CoV-2 variants for phenotypic characterisation, as part of the NIH’s SARS-CoV-2 Assessment of Viral Evolution Program (NIH SAVE). This selection of topics represents the nature of the study of antigenically variable pathogens. The rapid genetic and antigenic evolution …
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Bioprospecting surfactants produced by <i>Pseudomonas</i> spp. isolated from soil for potential application in biotechnology
… media (~24 – 26 mN/m) were examined. Initial phenotypic characterisation including biochemical, metabolic profiling and 16S rDNA sequencing confirmed strains were a diverse collection of Pseudomonas spp.. A series of behaviour assays including emulsion formation, foam stabilisation and oil …
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Antimalarial Drug Resistance: Mechanisms of Emergence in Low-Transmission Settings
… surveillance is very limited and in vitro phenotypic characterisation of isolates is almost non-existent. I collected contemporary samples of P. falciparum isolates from Colombia and compared these to isolates collected before the withdrawal of sulfadoxine-pyrimethamine to explore if there …
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Characterisation of vaginal Prevotella strains from a cohort of South African adolescent girls and young women with and without bacterial women with and without bacterial vaginosis
… high in sub-Saharan Africa and comprehensive characterisation of South African BV-associated bacteria is vital for BV management in the region. However, to date, most research has focussed on BV-associated Prevotella species from the global North. A total of 69 Prevotella isolates were …
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