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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 3691 for “"Mutations"”.
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Per Mutations
… isotopes, infamous scientists, genetic mutations, the Apollo missions, and other subjects to hold beside her own experiences so that she might better understand how to cope with the death of a loved one. Particularly, in this collection, the author seeks to understand the difference …
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Computational verification of published human mutations
The completion of the Human Genome Project, a remarkable feat by any measure, has provided over three billion bases of reference nucleotides for comparative studies. The next, and perhaps more challenging step is to analyse sequence variation and relate this information to important phenotypes. …
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Detecting worm mutations using machine learning
… corresponding signatures are created, but that mutations of known worms will remain undetected because each mutation will usually have a different signature. The intuitive and seemingly most effective solution is to write more generic signatures, but this has been found to increase false alarm …
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Somatic Mutations in Primary Sjögren’s Syndrome
Somatic Mutations in Primary Sjögren’s Syndrome Aleksandra Ivovic Despite decades of research and many insightful findings, a complete understanding of the pathogenesis of autoimmune diseases continues to elude us. In this thesis, I explore the hypothesis that somatic mutations may underpin the …
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Role Of Actg2 Mutations In Visceral Myopathy
ABSTRACTROLE OF ACTG2 MUTATIONS IN VISCERAL MYOPATHY Sohaib K. Hashmi Robert O. Heuckeroth Visceral myopathy is a debilitating condition characterized by dysfunction and weakness of smooth muscle in visceral organs including bowel, bladder, and uterus. When the bowel is primarily affected, the …
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Untimely mutations: deterritorializing H.G. Wells's scientific romances
… demonstrated, taking into account the myriad of ‘mutations’ to which it has been subject. Ultimately, this serves to demonstrate the ‘untimely’ power of Wells’s literature; ‘acting counter to our time and thereby acting on our time and, let us hope, for the benefit of a time to come’ (Difference …
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Polyclonal somatic mutations in health and disease
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Host Suppression of Pseudomonas Phage-Pf1 Mutations
Made available in DSpace on 2014-12-09T17:36:04Z (GMT). No. of bitstreams: 1 6812173.pdf: 2848645 bytes, checksum: f6025c4e148186075698f0ec166dc93a (MD5) Previous issue date: 1968
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Somatic Mutations in Ageing and Degenerative Disease
… the first division of the zygote, somatic mutations begin to accumulate in all human cells. Daughter cells become increasingly mutated leading to mosaic tissues, composed of genetically heterogeneous clonal units. In recent years, large scale sequencing efforts have begun to characterise …
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Gene mutations and expression in breast cancer
… breast cancer is a multigenic disorder with mutations in oncogenes and tumour suppressor genes playing an important role in cellular transformation and ultimately in tumour formation. In this study, 40 breast cancer patients from the Western Cape province in South Africa and 4 breast cancer …
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Drug Resistance Mutations in Naive HIV-1 South African Patients, and Construction of Molecular Clones to Phenotype Putative Resistance Mutations
… in South Africa were examined for resistance mutations. Samples were collected between May and August 2007. Phylogenetic analysis showed that all the sequences were HIV-1 subtype C in both the protease and reverse transcriptase genes. The mean genetic distances among the sequences were …
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Notopleural Mutations Enhance Defects In Imaginal Disc Epithelial Morphogenesis And Macrochete Elongation Associated With Mutations in the Stubble-Stubbloid Locus
… regulating imaginal disc morphogenesis, mutations in two Rho1 pathway genes, zipper (2 alleles) and Rho1, were isolated. Additionally, three new mutant enhancers of sbd201 were isolated, one of which has been identified as an allele of the cadherin gene Dacshous, another as an allele of …
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Pan-Cancer Analysis of Non-Coding Driver Mutations
… Together, my research indicates that non-coding mutations play crucial roles in cancer, and future studies should focus on completing the cancer driver catalog and using it for precision oncology.
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Understanding Allosteric Arginine Mutations Using Macromolecular Rate Theory
… explores the effects of allosteric arginine mutations on the temperature dependence of enzyme rates through the lens of MMRT and evolution using the model enzyme MalL. An in-depth analysis of a previously characterised arginine mutant is described along with four additional arginine mutants. …
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The Search for Regulatory Mutations in Gitelman Syndrome
… uncover a wide spectrum of rare, deleterious mutations with large effect sizes, which are responsible for Mendelian diseases. Roughly 70% of human genes are single copy and have orthologs across the vertebrate lineage, suggesting that they are under purifying selection. This suggests that at …
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Initiating mutations and chemoprevention in BRCA1 mutation carriers
… surgery. This thesis examines the initiating mutations in BRCA1 mutation carriers via two complementary approaches: a retrospective study of breast tissue utilising immunohistochemistry and FISH analysis of mutations known to be implicated in BRCA1-related tumourogenesis; and a prospective …
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IDENTIFICATION OF SPLICING PATHWAY MUTATIONS VIA TARGETED SEQUENCING
… our molecular understanding of how these mutations disrupt this complex process remains incomplete. To identify mutations which impact the splicing pathway I have developed a series of targeted-sequencing based quantitative genetic screens in S. pombe, a yeast species which is genetically …
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Regulatory Serotype Mutations in Tetrahymena Pyriformis, Syngen-1
Made available in DSpace on 2015-05-14T14:56:46Z (GMT). No. of bitstreams: 2 license.txt: 4848 bytes, checksum: 96035ab3f5e1c23cc7138a224ce498bd (MD5) 7317185.PDF: 2295447 bytes, checksum: 9cb6e21fc6ddc630578bfacec0cabeff (MD5) Previous issue date: 1972
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ARFGEF mutations: A mechanism for breast-to-brain metastasis
… is poor. Although it is established that mutations are responsible for driving metastasis, the specific gene alterations that promote brain metastasis remain unknown. Breast-to-brain metastasis occur when primary breast tumour cells disseminate to the brain, proliferating to form secondary …
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Massively parallel analysis of the functional effects of mutations
… 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 in evolution and …
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