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 129 for “"somatic mutations"”.
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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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Polyclonal somatic mutations in health and disease
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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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Accumulation of Somatic Mutations in Normal Human Colonic Epithelium
… cell dynamics in normal human colon by detecting somatic variants affecting X-linked and autosomal genes using immunohistochemistry. Applying neutral clonal marks to a large cohort of patients to interpret age-related trends in clone frequencies has established the baseline stem cell dynamics of …
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Selection and competition of somatic mutations in normal epithelia
… to study the accumulation and spread of mutations in pre- cancerous normal tissues. Recent studies have shown that apparently normal epithelium contains a high burden of mutations in cancer-associated genes. This thesis explores the behaviour of mutant clones in normal epithelium and how …
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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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Origin and Role of Nuclear Somatic Mutations in Frontotemporal Dementia
… have brought attention to the accumulation of somatic mutations in neurons that may cause ageing and several specific mutational signatures have been associated with disease states. Frontotemporal Dementia (FTD) is a young-onset form of dementia displaying great heterogeneity with respect to …
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SOMATIC MUTATIONS AT FRAGILE ENHANCERS OF LINEAGE- IDENTITY EPITHELIAL GENES IN BREAST CANCER.
… showed increased frequency of APOBEC-mediated mutations at CtIP-bound enhancers, possibly leading to altered expression of their target genes and epithelial-to-mesenchymal transition (EMT).
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Pan-Cancer Analysis of RNA Dysregulation, Somatic Mutations, and Matrix Stiffness using Bioinformatics Approaches
Cancer is a complex disease driven by genetic mutations, epigenetic modifications, and alterations in the tumor microenvironment. Understanding these intricate molecular mechanisms is crucial for advancing cancer diagnosis, prognosis, and treatment. RNA sequencing (RNA-seq) has emerged as a …
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A broadened HLA ligandome uncovers new immunotherapy targets for pancreatic cancer + A prime editor mouse to model a broad spectrum of somatic mutations
… uncovered a diverse cohort of MAPs derived from somatic mutations and transcript isoforms that are functionally unexpressed in most or all healthy tissues. These include MAPs derived from novel, unannotated open reading frames (nuORFs) present within long noncoding RNAs, processed transcripts, …
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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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Lineage tracing of normal human development and childhood cancers
… these genetic changes on to their descendants, mutations shared between any two cells therefore imply a shared developmental path. In essence, these somatic mutations connect all cells together into one large phylogenetic tree of human development with the zygote at the root. Reconstructing …
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The analysis of genetic aberrations in South African oesophageal squamous cell carcinoma patients
… (HERV's) insertions alongside the presence of somatic mutations in patient samples. The aims being to identify integration of any foreign DNA, to investigate if there is any linkage between HERV insertion and somatic mutations, and to identify any somatic mutations of potential interest in the …
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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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Somatic mosaicism in development and paediatric cancer
… of trillions of cells in adulthood, these somatic mutations are acquired throughout life either via endogenous errors in DNA replication or environmental DNA damage factors. Most of these somatic mutations land in the vast noncoding intergenic regions of the genome, marking cell lineage but …
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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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Sequence analysis of the E-cadherin (CDH1) gene in a cohort of gastric cancers seen in the Western Cape
… development of gastric cancer. Both germline and somatic mutations have been identified in the CDH1 gene. The germline mutations span the entire exon of this gene and are seen in approximately 29% to 56% of familial gastric cancers. On the other hand, CDH1 somatic mutations are seen in …
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Identifying and Analyzing Indel Variants in the Human Genome Using Computational Approaches
… unmapped reads in cancer and disease studies. Somatic mutations play a vital role in transforming healthy cells into cancer cells. Therefore, accurate identification of somatic mutations is essential. Many somatic mutations callers are available with different strengths and weaknesses. An …
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The mutational landscape of normal urothelium
… within an individual. The accumulation of these somatic mutations can ultimately result in oncogenic transformation. Cancer development is often a multi-step process, the earliest stages of which remain incompletely understood. Recent technological advances have enabled detection of somatic …
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The Intra-Tumour Heterogeneity Landscape of Human Cancers
Tumours accumulate many somatic mutations in their lifetime. Some of these mutations, drivers, convey a selective advantage and can induce clonal expansions. Incomplete clonal expansions give rise to intra-tumour heterogeneity. Somatic mutations can be measured through massively parallel …
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