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 49 for “"gene mutation"”.
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Epidemiology of non-squamous non-small cell lung cancer in New Zealand: A focus on EGFR gene mutation
… Cell Lung Cancer (NSCLC) patients with EGFR mutation. A better understanding is needed of the epidemiology of lung cancer in relation to EGFR mutation and strategies to facilitate identification of EGFR mutation-positive patients who may be eligible for EGFR targeted treatment. Thus, this PhD …
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THE ROLE OF MTHFR GENE MUTATION IN NEURODEVELOPMENTAL DISORDERS: EXPLORING POTENTIAL CORRELATIONS WITH ATTENTION DEFICIT HYPERACTIVITY DISORDER AND ANXIETY
… The methylenetetrahydrofolate reductase (MTHFR) gene has been identified as a possible contributor to ADHD. The goal of this research is to decrease the frequency at which ADHD is misdiagnosed by investigating the correlation between the MTHFR gene at the single nucleotide polymorphism (SNP) …
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ST3GAL3 GENE MUTATION WITHIN THE SINGULAR NUCLEOTIDE POLYMORPHISM, RS3952787, POTENTIALLY COULD PREDICT ATTENTION DEFICIT HYPERACTIVE DISORDER, ANXIETY, AND DEPRESSION
… disorder, and as such, certain genetic components may potentially aid in the diagnostic process. Previous and current literature has identified ST3 beta-galactoside alpha-2,3-sialyltransferase 3 (<em>ST3GAL3</em>) as a highly probable genetic component underlying ADHD. This study …
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Prevalence of gynaecological disease in women with an HMLH1 mutation in the Northern Cape province: Survey of a population with Lynch Syndrome in South Africa
… on HNPCC (ICGHNPCC); women affected with the gene mutation warrant full gynaecological assessment to exclude endometrial and ovarian cancer. Thus far the recommended screening has not been possible and the apparent prevalence of gynaecological cancer or premalignancies among this high risk …
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The Role of Chromosome Mutation and Aberration in Species Formation and Differentiation
… be more evident. The occurrence of chromosome mutations and aberrations, their role in the evolution of new species, and their integration with the process of gene mutation is of much more importance than is often given in many genetics texts.
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MODELING HEART DISEASE OF PATIENTS WITH MUSCULAR DYSTROPHY USING INDUCED PLURIPOTENT STEM CELLS
… a hereditary disorder resulting from dystrophin gene mutation. All patients inevitably develop cardiomyopathy and 30%-50% of them succumb to congestive heart failure. The mechanism of dystrophic cardiomyopathy is still elusive, partly due to the scarce human material to study this disease. …
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An investigation into morphological and biochemical abnormalities in the central nervous system of the mutant mouse tottering
… tottering carries an autosomal recessive single gene mutation on chromosome 8 that produces three distinct neurological disorders shortly before weaning: petit mal or absence-like seizures, ataxia and intermittent movement disorders. The majority of the research on the mutant mouse tottering has …
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Treatment Response Prediction in Acute Myeloid Leukemia Patients
… methods to messenger RNA (mRNA) expression and gene mutation data extracted from bone marrow or peripheral blood samples taken at patients' time of diagnosis. Identified biomarkers are used as feature sets to train a prediction model of patients' treatment responsiveness. This prediction will …
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Review of Diffuse large B cell lymphoma, pharmacological aspects of treatment and comparison of outcome between Pre-,Post Rituximab era
… prognosis and response to the treatment due to gene expression variability. Nowadays Rituximab is the gold standard treatment of NHL which is targeting monoclonal antibody of CD20 and it also shows good prognosis to DLBCL. Rituximab containing chemotherapy regimen like R-CHOP shows relatively …
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Exploring the impact of polygenes on genetic inheritance model identification, with application to Familial Colorectal Cancer Type X (FCCTX)
Although a genetic inheritance pattern has not yet been identified, there seems to be a hereditary component for some types of cancer. The focus of this thesis is on identifying the factors that enable correct identification of genetic inheritance models. Exploring this topic involved complex …
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Mutagenicity of root canal sealer RSA Roekoseal Automix in the Ames test
… Automix and AHPIus, were tested in the bacterial gene mutation assay (Ames test). Both materials were tested immediately after mixing and after setting 24 h. The Salmonella typhimurium tester strains TA98 and TA 100 were used to detect the induction of frame shift mutations and base pair …
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The population incidence of cancer
… The starting point for the thesis is the general observation that cancer incidence grows in approximate proportion to an integer power of age. Quasi-mechanistic mathematical models of cancer incidence have suggested that the integer power in a given case is related to the number of crucial …
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Integrated data analytics of germline mutation classes in human cancers. An integrated bioinformatics analysis to investigate associations between germline mutation classes and human cancers.
… was to investigate the impact of germline gene mutations, as a significant biological factor, on 29 major primary human cancers. For this I obtained data from multiple databases, including the Genetic Association Database (GAD), Sanger database (COSMIC), HGMD database, OMIM data and PubMed …
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The involvement of non-B DNA forming sequences in mediating missense mutations, micro-deletions and micro-insertions in human inherited disease
… mononucleotide runs and tandem repeats) and epigenetic marks in mediating germline missense and nonsense mutations, micro-deletions and micro-insertions causing human inherited disease and obtained from Human Gene Mutation Database (HGMD; http://www.hgmd.org) was studied in silico. A novel …
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Determining Mechanisms of Response to Polo-Like Kinase 1 Inhibition In Non-Small Cell Lung Cancer
… cancer-related death worldwide. The discovery of genetic alterations in some patients (~15%) has made it possible to use targeted therapies without the use of chemotherapy. To identify potential therapeutic targets in NSCLC, we systematically evaluated two cancer cell line databases with …
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Derivation of lymphocytes from human induced pluripotent stem cells
… hiPSCs. There are three projects: The overall generation of human lymphocytes (B cell, T cell and NK cell) from hiPSCs is explored in Project I. In Project II and III, based on the derivation of NK cells, two human immunodeficiency disease models, both caused by specific somatic gene mutation, …
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Electrophysiological characterization of a mouse deficient for oligophrenin1: a mouse model of X-linked mental retardation
… the most common brain disease. One of the first genes identified in X-linked mental retardation (XLMR) was the OPHN-1 gene. Mutation of this gene has been described in patients with moderate to severe cognitive impairments. MR is characterized by reduced cognitive function with or without other …
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Mutation of Polaris, an Intraflagellar Transport Protein, Shortens Neuronal Cilia
… due to ciliary defects. The product of the Tg737 gene is polaris, which is directly involved in a microtubule-dependent transport process called intraflagellar transport (IFT). In order to determine the importance of polaris in the development of neuronal cilia, cilium length and numerical density …
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