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 54 for “"Somatic Mutation"”.
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Somatic Mutation in Cancer and Healthy Human Tissue
Somatic mutation is a natural process in healthy human tissues but has significant implications in a range of disorders and diseases with cancer being the most prominent example. In the last decade, genomics research generated big data resources that contributed tremendously to our understanding …
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A comprehensive survey of somatic mutation landscapes in normal human cells
Somatic mutations play an important role in cancer development and may contribute to the ageing process. These genetic alterations can be driven by endogenous factors such as errors during DNA replication, defects in DNA repair mechanisms, and oxidative damage, or by exogenous mutagens such as …
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The impact of cytotoxic chemotherapy on somatic mutation in normal human cells
… by inducing DNA damage, which can generate somatic mutations in any surviving tumour cells. However, the systemic nature of many treatments means that the patient’s normal cells are also at risk of chemotherapy-induced mutagenesis. Patterns of mutations or ‘mutational signatures’ associated …
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Somatic Mutation Detection in Leukemia-Derived Circulating DNA: Utility in Monitoring Clonal Dynamics and Disease Response in Pediatric Acute Lymphoblastic Leukemia
… subclones other than the major diagnostic clone. Somatic mutation detection in circulating-tumor DNA (Ct-DNA) offers a new venue for non-invasive studying of genetic heterogeneity and tracking clonal dynamics throughout therapy. Here, we employ targeted Next-Generation Sequencing (NGS) using a …
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Somatic mutagenesis in humans with deficient DNA repair
The accumulation of mutations in normal cells causes the development of cancer and is implicated as a potential mechanism in the physiological process of ageing. In recent years our ability to interrogate the genome of human cancers and the normal tissues from which they arise has expanded greatly. …
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Mutational processes in normal human tissues
Mutations accumulate in all cells throughout life from the very first cell division of the fertilised egg. These somatic mutations contribute to cancer and other diseases as well as provide insights into ageing and development. Although somatic mutations in cancer genomes have been extensively …
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Germline and somatic mutational processes across the Tree of Life
… reads, which are widely used for ultra-rare somatic mutation detection. To test this hypothesis, I designed and developed himut, a bioinformatics software that leverages the read length and high base accuracy of CCS reads to detect and phase somatic mutations in bulk normal tissues, agnostic …
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Ldoc1, A Novel Biomarker of Prognosis In Chronic Lymphocytic Leukemia
… one of the best predictors of outcome is the somatic mutation status of the immunoglobulin heavy chain variable region (IGHV) genes. Patients whose CLL cells have unmutated IGHV genes have a median survival of 8 years; those with mutated IGHV genes have a median survival of 25 years. To …
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Investigation of KimiaNet's and DenseNet's deep features in lung cancer subtypes
… did not exhibit a potential for cancer grade and somatic mutation state classification.
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New insights in the molecular pathogenesis of neurofibromatosis type 1
… NF1-related symptoms by exploiting improved somatic mutation detection strategies on a diverse spectrum of cellular entities.
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NOVEL RNA-BASED CANCER VACCINE FOR AML IMMUNOTHERAPY
… sites, retained-intron sites, and somatic mutation sites. Screen for immunogenic neoepitopes using 102 synthetic peptides was performed in ELISpot assays. Our final 10 candidates were cloned into a vaccine construct. mRNA cancer vaccines were synthesized using our optimized …
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Alternative Mrna Splicing Redefines The Landscape Of Commonly Dysregulated Genes Across The Acute Myeloid Leukemia Patient Population.
… of AML-associated genes independent of known somatic mutations. In particular, I highlight that aberrant splicing triples the number of patients with reduced functional EZH2 protein compared with that predicted by somatic mutation alone. In addition, I unexpectedly find that transcripts …
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Stabilization of Topoisomerase 2 Mutants Initiates the Formation of Duplications in DNA
… mutants, both of which are associated with a mutation signature characterized by de novo duplications. These duplication events are dependent on clean removal of the Top2cc from the DNA and DSB repair by nonhomologous end-joining. The first mutant (top2-FY,RG) was identified through a screen …
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From genetics to disease: Algorithms to decode somatic mutations
… cellular, and, ultimately, organism function. Somatic mutations, which arise in cells during the course of life, are natural experiments that can be leveraged to provide insight into this profound question. This thesis develops computational methods to identify somatic mutations and infer their …
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Oncogene-driven post-transcriptional regulation in lung cancer
Lung cancer is often caused by genetic mutations which alter the activity of proteins in the RAS family, with somatic mutation of the KRAS gene occurring in ~30% of lung adenocarcinoma tumors. A gene of the same family, RIT1, is mutated or amplified in 10-15% of lung adenocarcinomas. Although …
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Il cane come modello animale spontaneo di patologie neoplastiche dell'uomo: ene Ataxia-Telangiectasia Mutated (ATM) Nnella predisposizione al cancro ed importanza dei riarrangimanti genici dei geni Ig/TCR per la diagnosi e prognosi delle malattie linfoproliferative
… project aimed at investigating the role of somatic mutations of Ataxia-Telangiectasia mutated (ATM) gene in predisposing to cancer in boxer dogs, are presented. The canine boxer breed may be considered an unique opportunity to disclose the role of ATM somatic mutation since boxer dogs are …
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Integrative Biomarker Identification and Classification Using High Throughput Assays
… next generation sequencing assays interrogating somatic mutation, insertion, deletion, translocation and structural rearrangements. Given the massive amount of data, a major challenge is to integrate information from multiple sources and formulate testable hypotheses.</p> <p>This thesis focuses …
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Mitochondrial genetic variation in the evolution of humans and metabolism of cancer
… which is maternally inherited and has a high mutation rate. Hence the mtDNA is an ideal genetic tool to trace human evolution and migrations, and a candidate for somatic mutation studies in cancer. These aspects of mitochondrial genetics form the two main foci of this thesis. Southern Africa …
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Somatic Mutations in Ageing and Degenerative Disease
Following 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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Combination Chemotherapy and In vivo Modeling of BRCA-deficient, High-grade Serous Ovarian Cancer
… over 60% of patients succumbing to the disease. Mutations in a number of homologous recombination repair genes have been implicated in hereditary ovarian and breast cancer. Specifically, over half of ovarian cancer cases exhibit BRCA-deficiency by either germ line or somatic mutation, or …
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