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 50 for “"genomic alterations"”.
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Deconvolute Brain Tumor Genomic Alterations Based On Dna Methylation
… between epigenetic signature and genetic alterations is poorly understood. For example, mutation of isocitrate dehydrogenase (<em>IDH</em>) is associated with genome-wide hypermethylation of CpG islands in gliomas. But other subtype-associated alterations, including telomerase reverse …
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Clonal Phenotype Mapping Reveals Genomic Alterations Underlying Tumor Immunosuppression during Immunotherapy
… Further analysis identified a recurrent genomic alteration associated with an immunosuppressive immune microenvironment, which correlates with poor immunotherapy response and is conserved across multiple cancer types. These findings highlight the intrinsic stability of tumor …
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Investigation of HPV16-related genomic alterations in cervical squamous cell carcinoma
… examined the effects of human papillomavirus genomic integration into the host genome on host gene expression in cervical squamous cell carcinoma (CSCC) tumors. The genomic analysis involved clinical and genomics data analysis using bioinformatics and statistical methods. The Cancer Genome …
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Genetic Control of Genomic Alterations Induced in Yeast by Interstitial Telomeric Sequences
<p>Telomeric sequences are often located internally on the chromosome in addition to their usual positions at the ends of the chromosome. These internally-located telomeric sequences have been termed “interstitial telomeric sequences” (ITSs). In humans, ITSs are non-randomly associated with …
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The role of viral sequences in genetic aberrations and malignant transformation
… of cellular transformation and also to identify genomic alterations associated with oesophageal squamous cell carcinoma. 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 …
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Decoding The Evolutionary Response to Prostate Cancer Therapy Using Plasma Genome Sequencing
… called PEGASUS that concurrently measures genomic copy number and exome mutations from archival cryostored plasma samples. This approach was applied to study longitudinal blood plasma samples from prostate cancer patients. A molecular characterization of archival plasma DNA from 233 …
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Detection of AR gene rearrangements and regulation of AR variant-driven prostate cancer models
… cancer models. In this thesis, we review AR-Vs, alterations in AR, and alterations in the broader AR pathway examined in the context of primary prostate cancer tissue, metastatic CRPC tissue, circulating tumor cells (CTCs), and circulating cell-free tumor DNA (ctDNA). Additionally, we profile a …
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Fibrolamellar Hepatocellular Carcinoma and Noncirrhotic Hyperammonemic Encephalopathy
… from hepatocarcinoma. The differences lie in genomic alterations, a greater prevalence of fibrolamellar hepatocarcinoma in young patients, and its lack of association with underlying liver disease. The clinical presentation is unspecific, with symptoms ranging from abdominal pain, malaise, and …
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Elucidating The Direct Role of M6A In The Human Transcriptome
… the challenges of protein silencing through genomic alterations or transcript inhibition, but rather we focus on the direct targeting of proteins for degradation and rapid chemical inhibition of the m6A methyltransferase in a human cell model HCT116. This study allows for the direct analysis …
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Uncovering functional mechanisms in cancer through integrative genomics
… information has enabled the creation of advanced genomic technologies such as DNA microarrays that interrogate the structural and transcriptional dynamics of the genome on a comprehensive scale. However, the computational analysis of the output of genome-scale investigations has not been readily …
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P53 Dimers Elicit Unique Tumor Suppressive Activities Through An Altered Metabolic Program
… Syndrome (LFS) patients with germline TP53 TD alterations. Detailed studies showed p53 monomers are inactive forms of the protein. Unexpectedly, p53 dimers conferred some tumor suppression that is not mediated by canonical stress-activated WT p53 activities. Mechanistically, p53 dimers …
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An Investigation of Epigenetic Mechanisms Driving The Biology of Head and Neck Squamous Cell Carcinoma
… the majority of work in the field has focused on genomic alterations such as mutations and copy number alterations. However, the clinical success of targeted therapies that exploit known genomic alterations, such as <em>EGFR</em> mutations, has remained mixed. Over the past decade, the importance …
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COMPREHENSIVE WHOLE GENOME SEQUENCING UNRAVELS THE COMPLEX GENOMIC LANDSCAPE OF NEUROBLASTOMA
… databases i) to provide a full compendium of NBL genomic alterations (point mutations and structural variants or SVs) and ii) to investigate the correlation between germline Small Nucleotide Variants (SNVs) and the genomic instability of NBL, a well-established marker of poor prognosis. We found …
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EXPLORING THE MUTATIONAL LANDSCAPE OF MITOCHONDRIAL GENOME IN HEMATOLOGIC MALIGNANCIES
… genome (mtDNA) is particularly vulnerable to genomic alterations due to its proximity to the respiratory chain, lack of protective histones, and limited repair capacity. Although mtDNA mutations have been implicated in carcinogenesis, their contribution to hematologic malignancies remains …
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Approaches to Reduce Selection of Genomic Variants in Human Pluripotent Stem Cell Culture
Optimizing culture conditions that reduce genomic instability in human pluripotent stem cells (hPSCs) is an unmet challenge in the field. Results from our lab and numerous research groups demonstrate that hPSCs are prone to genomic aberrations and single-cell passaging increases the rate of genomic …
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Uncovering Molecular Targets to Overcome Immunosuppression In Non-Small Cell Lung Cancer With Acquired Tki Resistance
… a variety of resistance mechanisms including genomic alterations and upregulation of bypass pathways. Additionally, patients who have acquired resistance to these targeted agents typically have tumors characterized by an immunosuppressive tumor microenvironment and thus yield minimal clinical …
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Epigenetic Modulation In Braf Mutated Metastatic Colorectal Cancer
… consider gene expression given the relevant non-genomic alterations.</p>
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Endothelial cell plasticity as a marker of vascular disease and predictor of adverse outcomes to stress
… "endothelial" profile or if the interplay among genomic alterations, transcriptional and proteomic shifts, and environmental cues leads to a state that challenges the hypothesis that ECs remain plastic until they become committed to flow. The integration of single-cell transcriptomics and in vivo …
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Concomitant Targeting of The Mtor/Mapk Pathways: Novel Therapeutic Strategy In Subsets of Non-Small Cell Lung Cancer
… to available therapies. Herein, we utilized genomic mutation data from advanced chemorefractory non-small cell lung cancer (NSCLC) patients enrolled in the Biomarker-Integrated Approaches of Targeted Therapy for Lung Cancer Elimination (BATTLE-2) clinical trial to characterize novel …
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An in vitro cell lineage model to identify alterations in the differentiation program of neuroblastoma
… differentiation path in which the tumorigenic alterations bring to a differentiation block is still unclear. In the attempt to elucidate this point, we successfully established an efficient differentiation protocol to obtain from human embryonic stem cells (hESCs) the tNCCs, SAPs, SCPs, SCP/SAP …
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