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 30 for “"Pseudogene"”.
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The molecular mechanisms of pseudogene-mediated PTEN expression.
… PTEN regulation is fine-tuned by the PTEN pseudogene, PTENpg1, and its two antisense RNAs. A number of proteins including DNA-methyltransferase 3a (DNMT3a) and Enhancer of zeste homologue 2 (EZH2) have been found to repress the PTEN gene by interacting at the PTEN promoter to cause a …
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Reengineering a human-like uricase for the treatment of gout
… In humans and the other great apes, uricase is a pseudogene and as such is inactive. Research on therapeutic uricases has focused on using enzymes from naturally occurring sources; however, these foreign proteins can be very antigenic and present a potentially life-threatening safety risk to …
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Genome evolutionary studies of the Salmonella enterica serovars: implications for the dynamics of horizontal gene transfer, the pangenome concept, and bacterial and archaeal taxonomy
… another readily detectable form of gene loss, pseudogene formation, was an increasingly important mode of loss within microbes. This dissertation describes our analyses of the horizontally acquired genes and pseudogene accumulation in the Salmonella enterica serovars. The wide range of diseases …
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Elucidation of the epithelial sodium channel as a salt taste receptor candidate and search for novel salt taste receptor candidates
… In contrast, δ-ENaC is classified as pseudogene Scnn1d in mouse. However, no experimental detected sequences are annotated, while evidences for parts of Scnn1d derived mRNAs exist. In order to elucidate if Scnn1d is possibly involved in rodent salt taste perception, Scnn1d was …
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Bioinformatics e Biostatistics applied to research in pediatric genetic disease. Clinical evidence in IFNλ4 polymorphisms associated with HCV infection in patients with beta thalassemia and WGCNA analysis weighted for IFNλ4 genotype rs12979860 to detect RPL9P18 as hub in HCV infected cell.
… occur inside ribosome. We discovered RPL9P18 pseudogene as a hub potentially related in inhibition of spontaneous clearance and furthermore likely involved in drug treatment inhibition. Our result suggests an active role for ribosome pseudogene in innate antiviral response probably during ISG …
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Evolutionary Fitness of Non-Coding Genetic Elements
… fitness of two classes of genetic elements, pseudogenes and exons, that may encode functional amino acid sequences. In Chapter 1 of this dissertation, we introduce the concepts and tools employed in later chapters. We provide a conceptual overview of pseudogenes and exons, as well as review …
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Partial isolation and characterization of the mouse calmodulin genes
… the Cam I and Cam III genes as well as a Cam II pseudogene were isolated from a 129SVJ mouse genomic library. When the Cam II cDNA was used to determine the chromosomal location of the Cam II gene, the results indicated that at least two likely pseudogenes exist in addition to the functional …
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NANOGP1 as a Model to Study the Consequences of Gene Duplications on Human Pluripotency and Development
… I investigated NANOGP1, which is a duplicated pseudogene of a key pluripotency factor called NANOG. NANOGP1 was chosen as a model for studying gene duplication in human pluripotency for several reasons. Firstly, NANOGP1 is an evolutionarily conserved duplicate in Hominidae that appears to have …
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Antibody phage-displayed libraries derived from chicken immunoglobulin genes : a source of highly specific diagnostic antibodies
… determining regions and the VL chain pseudogene donors were identified. Stability of the selected scFvs was determined by incubation at different times and at different temperatures. The specificity and potential use of an LDH-specific scFv as a diagnostic reagent was shown in sandwich …
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Cloning of actin genes from a genomic library of the newt, Notophthalmus viridescens
… 2. the high copy number of cytoplasmic actin pseudogenes in other vertebrates and the high degree of evolutionary sequence conservation among actin genes increased the chance of cloning one of the newt cytoplasmic actin genes. 3. Preliminary experiments indicated that a newt actin could …
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VDAC1P8 as a Novel Regulatory Element in Leukemogenesis: Integrative Genomic, Epigenetic, and Functional Insights [VDAC1P8 come nuovo elemento regolatorio nella leucemogenesi: approfondimenti genomici, epigenetici e funzionali integrati]
… VDAC1 e di alcuni pseudogeni, in particolare lo pseudogene VDAC1P8, che ha indirizzato la nostra attenzione su alcuni tumori, la leucemia mieloide acuta (AML) e il cancro al colon retto (COAD). Per esempio, l'analisi comparativa in-silico tra il gene VDAC1 e il suo pseudogene, VDAC1P8, combinata …
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Investigating the role of ALDH3B2 and FUT2 as potential risk genes to colorectal cancer through computational analysis and gene expression study of colonic cells, and utilizing colorectal cancer cell lines to explore gene-environment interactions
… that human ALDH3B2 is likely an un-transcribed pseudogene with no enzymatic functionality. FUT2 encodes a fucosyltransferase that is central to the biochemical pathway responsible for the expression of the A and B antigens in non-blood bodily fluids. At least three transcript forms of FUT2 were …
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Modulation of microRNA Functions by the 3’ Untranslated Regions of CD44 and Tumour Suppressor Candidate 2
… During the study of the TUSC2 3’UTR, a potential pseudogene, TUSC2P, was discovered. Interestingly, TUSC2P mRNA expression was found to be decreased in cancer cells compared to normal cells and had similar cell functional characteristics as that of the TUSC2 3’UTR. These findings suggest that the …
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Molecular diagnosis in inherited polycystic kidney disease
… and sequence specific challenges related to pseudogenes that share >97% homology to the main disease gene (PKD1). This thesis addresses the sequencing and variant interpretation challenges encountered in the molecular diagnosis of PKD. In addition, mechanisms of cyst formation are explored. …
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RECONSTRUCTION OF MOLECULAR REGULATORY NETWORKS IN <i>Arabidopsis thaliana</i>
… Pus10 function remains unknown with possible pseudogene in some lineages</p>
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New approaches for measuring fitness of Plasmodium falciparum mutations implicated in drug resistance
… used was adapted for P. falciparum by using a pseudogene (PfRh3) as a safe harbour to insert unique molecular barcodes. These libraries of barcoded P. falciparum vectors were also used as a readout of transfection efficiency. The second chapter establishes a proof of principle for phenotyping …
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NOVEL APPROACHES IN GENETIC VARIANT DISCOVERY AND CLASSIFICATION TACKLING UNSOLVED PROBLEMS IN CANCER CLINICAL GENOMICS
… used, due to high homology with a known pseudogene. Further investigation led to the discovery of a phenomenon that we named Genotype-Dependent Mismapping (GDM). Genomic regions subject to GDM are highly homologous regions that differ by one or few highly prevalent polymorphisms. As a …
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Functional Sorting of Evolutionary Effects in Protein Domains
… the functional gene and its corresponding pseudogene is that the non-functional version of the gene tends to become simpler in terms of sequence complexity. This provides an independent variable for assessment of functional change. The information theory was applied to measure the change of …
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Phylogenetic distribution of CMP-Neu5Ac hydroxylase (CMAH), the enzyme synthetizing the pro-inflammatory human xeno-antigen Neu5Gc
The enzyme CMP-N-acetylneuraminic acid hydroxylase (CMAH) is responsible for thesynthesis of N-glycolylneuraminic acid (Neu5Gc), a sialic acid present on the cell surfaceproteins of most deuterostomes. The CMAH gene is thought to be present in mostdeuterostomes, but it has been inactivated in a …
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Development of An In Silico Kir Genotyping Algorithm and Its Application to Population and Cancer Immunogenetic Analyses
… with melanoma and another variant in the KIR3DP1 pseudogene associated with prostate adenocarcinoma. The analysis also revealed significant batch effects due to disparities in the lengths of sequence reads produced by different sequencing centers. SeRRAMC processing is the first approach to enable …
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