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 31 for “"DNA Mutations"”.
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Consequences of Pathogenic Mitochondrial DNA Mutations in Cancer Progression
Mitochondrial DNA (mtDNA) mutations are prevalent in human cancers; however, their functional impact on cancer progression remains controversial and uncertain. This uncertainty is primarily due to a lack of suitable models for controlled functional studies. This thesis addresses this limitation by …
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Modelling and correction of retinal pathologies caused by mitochondrial DNA mutations via genetic engineering
… their energy production role, contain their own DNA (mtDNA), which is susceptible to mutations. These mutations underlie primary mitochondrial diseases, often affecting high energy-demand tissues such as the retina, brain, heart, and skeletal muscle. Consequently, they constitute a common cause …
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From Protein Structure to Clinical Strategy: An In silico Investigation of Mitochondrial DNA Mutations in Type 2 Diabetes and Degenerative Disc Disease for Targeted Nutritional Interventions
… degenerative disease processes. Mitochondrial DNA (mtDNA), which encodes essential structural subunits of the electron transport chain (ETC) as well as critical non-coding RNAs, plays a central role in cellular bioenergetics, however, the structural consequences of pathogenic mitochondrial …
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Consequences of Endogenous Mitochondrial Oxidative Stress in the Heart
… oxidative stress within the mitochondria causes mutations to the mitochondrial genome, resulting in changes in copy number per single cell. Ultimately, this compensatory increase in mtDNA, coupled with an increase in mutations, has been suggested to play a major role in the pathobiology of aging. …
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DNA Translesion Synthesis Factors are Essential for Mammalian Embryonic Germ Cell Development
… the genome is therefore of unique importance as mutations in the germline are the source of genetic variation on which evolution acts but also the drivers of sporadic, severe inherited diseases. Thus, the balance between generating genetic diversity and minimising the risk of genetic disorders is …
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The Use of Sphingomyelin to Protect Against UV Induced DNA Damage in Human Keratinocytes
… chronic ultraviolet (UV) exposure that leads to DNA damage in skin. UV radiation has the potential to lead to DNA damage, which triggers biochemical pathways within a cell. The result is that the cell either undergoes cell cycle arrest, giving the cell time to repair DNA damage, or apoptosis. …
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Discovery of novel CRISPR enzymes for transcriptome engineering and human health
… has revolutionized our ability to manipulate DNA, but no known RNA-targeting versions exist. To discover parallel bacterial RNA-targeting systems that could be used for transcriptome engineering, we developed a computational pipeline to mine for novel Class 2 CRISPR systems across more than …
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Sperm sequencing reveals extensive positive selection in the human germline
… of life, cells of the human body accumulate DNA mutations due to damage from intrinsic causes or exposure to mutagens. Mutations that occur in reproductive cell lineages are known as germline mutations and have the potential to be transmitted to offspring. Germline mutations serve as the …
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Uncovering the variability, regulatory roles and mutation rates of short tandem repeats
… the past decade, the advent of next-generation DNA sequencing technologies has ushered in an exciting era of biological research. Through large-scale sequencing projects, scientists have begun to unveil the variability and function of millions of DNA mutations called single nucleotide …
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Identifying Metabolic Liabilities in Hürthle Cell Thyroid Carcinoma
… wherein HTC tumors enrich for mitochondrial DNA mutations that are predicted to impair complex I of the electron transport chain (ETC). Consistent with these mutations, our work shows that HTC models harboring mitochondrial DNA-encoded defects in complex I of the mitochondrial electron …
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Physiological response to three environmental stressors predicts fitness and genome quality but not base substitution rate in caenorhabditis elegans
<p>"Since DNA mutations occur all the time and may have deleterious effects on fitness (survival and reproduction), organisms expend substantial metabolic resources to find and repair mutations. This metabolic expenditure is termed the cost of fidelity. If an organism is in "poor" condition and …
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Systems approaches to identify molecular signatures from high-throughput expression data: towards next generation patient diagnostics
… biomolecular networks caused by DNA mutations, pathogenic microorganisms, or environmental toxins. These perturbations lead to alterations in the abundance of intra/extracellular biomolecules, which offer diagnostic clues to the presence, as well as progression of disease. In this …
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Precision Gene Editing for Muscle Diseases
… many incredible things. Consequently, genetic mutations that cause muscle disease can have a profound effect on the afflicted individual. Gene editing tools like base editors and prime editors enable us to target and correct the underlying genetic causes of these diseases. Base editors enable …
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The use of massively parallel sequencing to study the virome, epigenome and genome of canine and feline cancers
… understanding that it is not caused by any other DNA or integrated dsRNA virus. In canin DLCBL (cDLBCL) we provided more evidence that the subgroups seen in human DLBCL (hDLBCL) cannot be faithfully reproduced in the methylome of cDLCBL, likely at a greater scale than DNA mutations, and …
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Identification of potential drug targets in glioblastoma using proteogenomic platforms
… GBM is also classified according to the tumour mutations in three groups: MGMT mutated, EGFRvIII mutated and 1q19p co-deletion. Incidence increases with age and sex, in fact, males are more often affected. The risk of developing GBM is associated with very few genetic predispositions and …
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Re-engineering of Dendrimer-Based Lipid Nanoparticles for Efficient and Precise HDR-Mediated Gene Editing
… progress has been made toward precise editing of DNA via Homology Directed Repair (HDR) that requires careful orchestration of complex steps. Rather, many reports of in vivo gene editing rely on an error-prone mechanism called Non-Homologous End Joining (NHEJ). While this pathway is effective for …
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Non-Coding Rnas Identify The Intrinsic Molecular Subtypes of Muscle-Invasive Bladder Cancer
… primarily focused on protein-coding genes or DNA mutations/alterations.</p> <p>There is emerging evidence implicating non-coding RNAs (ncRNAs), both short (miRNA) and long (lncRNA), in the regulation of various biological processes involved in cancer development and progression. The molecular …
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DNA damage in paediatric obesity: a promoter and predictor of cancer in adulthood
… may inflict an accumulation of deleterious DNA mutations and promote genome instability and drive carcinogenesis. Furthermore, a deficiency in micronutrients that are essential for DNA repair may exacerbate this pathological state. This research combined the assessment of anthropometric, …
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Characterizing population-level variation in mRNA splicing and implications for human genetic interpretation
… sequence gives rise to multiple RNA sequences. DNA mutations in this gene sequence can alter this process, shifting the relative usage of RNA sequences. This relative usage is called percent spliced in (PSI). Sometimes changes in PSI triggers a change in function, happening at the level of a …
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Epigenetic silencing of gene expression in paediatric astrocytoma
… in children. Furthermore, little is known about DNA methylation changes in paediatric astrocytoma. Recent investigations suggest that many tumours are initiated not only by genetic abnormalities, but also caused by epigenetic changes. DNA methylation is a key epigenetic mechanism that controls …
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