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 36 for “"genetic aberrations"”.
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The role of viral sequences in genetic aberrations and malignant transformation
Cancer is a leading cause of death worldwide and viral infections such as HBV/HCV and HPV have been known to be responsible for up to 20% of cancers in low- and middle-income countries. Approximately 500,000 of these deaths are due to oesophageal squamous cell carcinoma (OSSC) alone, one of the …
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Studies on genetic aberrations as possible predictors of the outcome of assisted reproduction
… recent years fragmentation of sperm DNA and/or genetic polymorphisms have attracted an increased interest in seeking for causes of male mediated infertility. However, when the work behind this thesis was initiated, the knowledge regarding the impact of somatic and germ cells genetic aberrations, …
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The analysis of genetic aberrations in South African oesophageal squamous cell carcinoma patients
Estimates for 2017 indicate that 20% of cancers globally are gastrointestinal tract (GIT) cancers, with oesophageal cancer being the 8th most common cancer. Oesophageal squamous cell carcinoma (OSCC) occurs in the upper to mid oesophagus and is present at high incidence in developing countries …
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SILVER NANOPARTICLES ARE EFFECTIVE FOR THE TREATMENT OF CLAUDIN LOW BREAST CANCER AND OTHER MESENCHYMAL CANCERS WITH HIGH ZEB1 EXPRESSION
… basal-like, and claudin-low) that have distinct genetic aberrations, morphological features, prognoses, and therapeutic responses. Therefore, breast cancer should be treated with subtype specific therapies as these may provide the greatest therapeutic benefit.
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Transcriptional consequences of genetic variation on single cells in development and cancer
The study of genetic variation has long been central to understanding human disease. Genetic mutations, which constantly accumulate in cells through every cell division and may be inherited, can profoundly impact human development and health. A deeper understanding of their functional consequences, …
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The relationship between BRAF genetic alterations and the risk of tumour recurrence in Pilocytic Astrocytomas in children diagnosed at Red Cross Children's Hospital over a 33-year period
… prognostic factors. Essentially all PAs harbour genetic aberrations resulting in the deregulation of the MAPK signalling pathway, with BRAF gene mutations being the most frequent. 4 However, reports on the impact of specific mutations on patient prognosis are controversial. 5–8 Advances in …
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Genetische Aberrationen mit einem Wachstumsvorteil in frühen Präkanzerosen des Urothels der Harnblase
… frequently. In order to understand the initial genetic aberrations reflecting growth advantage in bladder cancer we investigated first chromosomal aberrations and validated their biological potential at single cell level. Using multi-colour fluorescence in situ hybridisation (FISH; Urovysion) …
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AGO2 in overexpression exhibits oncogenic functions KrasG̳1̳2̳D̳ -associated mouse tumor models
… of normal healthy cells that have accumulated genetic aberrations that contribute to uncontrolled cell divisions. Generally, cancer cells have acquired gain of function mutations in oncogenes that positively promote cell proliferation and growth. Simultaneously, mutations in tumor suppressor …
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Genetic Characterization of Pediatric T-cell Acute Lymphoblastic Leukemia
The aim of my thesis has been to characterize genetically pediatric T-cell acute lymphoblastic leukemia (T-ALL). Articles I and II focus on molecular characterization of translocations involving T-cell receptor (TCR) loci. These types of aberration are characteristic for T-ALL and have previously …
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APPROACHING DNA METHYLATION AT THE NANOSCALE
Epigenetics involves a variety of biochemical modifications occurring on chromatin that are able to regulate and fine-tune genetic activities without altering the underlying DNA sequence. So far, four types of epigenetic modulation have been extensively studied: DNA methylation, histone …
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A Chemically Induced Colitis Screen Reveals the Necessity for Membrane Traffic in Intestinal Homeostasis
… caused by the interaction of environmental and genetic aberrations. Under normal conditions, a genetic program actively prevents inflammatory bowel disease, preventing invasion of microbes without permitting severe inflammation of the gut. To identify genes that maintain this balance, we …
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Gsk3 Mediates Signaling Upstream of Akt
… malignancy is demonstrated by cancer-associated genetic aberrations at multiple levels in the PI3K/Akt pathway in many tumor lineages. These aberrations include mutation or amplification of Akt, catalytic and regulatory subunits of PI3K, and growth factor receptors upstream of PI3K. Inactivating …
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Concomitant Targeting of The Mtor/Mapk Pathways: Novel Therapeutic Strategy In Subsets of Non-Small Cell Lung Cancer
… survival. There was enrichment of MAPK pathway genetic aberrations in key oncogenes (e.g. <em>KRAS, BRAF, NF1</em>) associated with <em>RICTOR</em> altered cases, underscoring that RICTOR could serve as an important co-oncogenic driver in specific molecular settings. Moreover, we utilized a …
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An automated multicolour fluorescence in situ hybridization workstation for the identification of clonally related cells
… the identification of subpopulations (clones) of genetically similar cells within tissue samples through measurement of loci-specific Fluorescence in-situ hybridization (FISH) spot signals for each nucleus and analyzing cell spatial distributions by way of Voronoi tessellation and Delaunay …
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Deconvolution of Leukemic Evolution Through Initiation, Progression and Relapse
… deeper understanding of the co-operative role of genetic aberrations, the functional impact of clonal diversity and the cellular target of transformation are required. Human models of leukemogenesis are vital in answering these questions. Using primary human umbilical cord blood cells, transduced …
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Genetic Profiling in Soft Tissue Sarcoma
… to STS. The studies provide clues to the genetic pathways involved in STS development and identify profiles linked to diagnosis and prognosis. The results from Study I that concerns intratumor versus intertumor heterogeneity of gene expression profiles in malignant fibrous histiocytoma …
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Applications of mitochondrial gene therapy
Genetic aberrations in the mitochondrial genome (mtDNA) can often manifest as clinical pathologies. Along with genetic mutations in nuclear encoded mitochondrial genes, these pathologies form a group of genetic disorders referred to as mitochondrial diseases. Engineered mitochondrially targeted …
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Investigating the initiation and progression of small cell lung cancer
… the need to better understand this disease, the genetic lesions that contribute to SCLC remain poorly characterized. To investigate the genetic aberrations that occur in SCLC, we analyzed the copy number alterations in tumors and metastases arising in a mouse model of SCLC (mSCLC), driven by …
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Evolution's footsteps : reconstructing in vitro and in vivo evolutionary trajectories via massively parallel sequencing and profiling
… by low-resolution techniques such as classical genetics or microarray mapping followed by sequencing, and many relevant genes may remain undetected. The recent development of technologies for cost-effective whole-genome resequencing offers the opportunity to comprehensively study evolution in …
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Investigation of de-novo copy number variants in patients with Autism Spectrum Disorder in Vietnam
… restricted interests and repetitive behaviours. Genetic alterations contributing to increasing risk of ASD have been reported. Early genetic screening, especially for families with a positive ASD history, could aid the early diagnosis and potentially more effective disease management strategies. …
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