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 10 of 10 for “"trinucleotide repeats"”.
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Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa
… was undertaken to investigate the polymorphic repeats; (CAG)n and (CCG)n within the HD gene, in a sub-group of HD patients and family members from a population where HD is infrequently observed. Primer pairs were used to amplify each trinucleotide repeat separately. Molecular investigations of …
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Part I. A Stacked Intercalator Approach to Selectively Target Mismatches Within CTG and CUG Trinucleotide Repeats. Part II. Aromatic Stacking of Naphthoyl Modified Cytosines Within PNA·DNA Duplexes
To this end, naphthoyl substituted cytosines were synthesized and incorporated into PNA monomers followed by preparation of PNA oligomers containing multiple substitutions of the modified cytosine. Thermal denaturation studies and thermodynamic analyses of resulting PNA·DNA duplexes were …
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Development of enforced stacked intercalators that target trinucleotide repeat mismatches in DNA
… 1 (DM1), which is caused by the expansion of CTG trinucleotide repeats (TNR) in the 3’- untranslated region of the dystrophia myotonica protein kinase (DMPK) gene. Extensive efforts have made it possible to elucidate its pathogenesis and mechanism of action. In this regard, numerous compounds have …
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Microsatellite-based genetic profiling for the management of wild and captive flamingo populations.
… are loci composed of 2-6 base pair tandem repeats, scattered throughout higher eukaryotic genomes, often exhibiting high levels of polymorphism and heterozygosity. These loci are thus important genetic markers for identity, parentage and population studies. Here, six microsatellite loci …
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CAG repeat expansions induce cytoplasmic RNA aggregation
Expansions of ‘CAG’ trinucleotide repeats in the genome can cause over a dozen diseases, including Huntington disease and several spinocerebellar ataxias. Short tracts of these ‘CAG’ repeats are benign; however, mutant alleles that harbor an abnormally large number of consecutive ‘CAG’ motifs can …
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Analysis of the expression and effects of vascular endothelial growth factor family of molecules on Fragile X Syndrome abnormalities in a mouse model
… a silencing of the FMR1 gene, via increased CGG trinucleotide repeats, which encodes for the Fragile X Mental Retardation Protein (FMRP) (Santoro et al., 2012). The current prevailing theory for the molecular mechanism mediating FXS molecular, physical, and behavioral phenotypes is centered …
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Molecular mechanism of glycogen phosphorylase gene regulation during Dictyostelium development
… sequence in the second exon that contains 11 CAA trinucleotide repeats. The entire 5' and 3' non-coding regions of the gp2 gene and the whole 5' noncoding region of the gp1 gene have also been cloned. The regulation of the gp2 gene by Dictyostelium developmental signals was studied. Both cyclic …
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New Insights into the Roles of FAN1 Nuclease in Genome Maintenance and Disease
… crosslinks (ICLs), and the expansion of trinucleotide repeats. ICLs are highly deleterious lesions that disrupt replication, are destructive to dividing cells, and are extremely toxic to the hematopoietic system. The replication-dependent Fanconi anemia (FA) pathway defends against ICL …
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Identification and investigation of RNA-binding ligands
… splicing of a variety of genes. Targeting these repeats with small molecules could block the sequestration of MBNL1 and restore normal splicing levels, alleviating the pathogenesis of the disease. To that end, I have screened a library of select compounds, chosen for their potential to act as RNA …
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Vyhledáváni repetitivní DNA z nukleotidových sekvencí
V této práci je rozebrána problematika repetitivních DNA a algoritmů pro vyhledávání tandemových repetic. Tandemové repetice hrají důležitou roli v biologickém průmyslu. Slouží jako genetické markery pro tvoření genetických map, profilů DNA pro určování otcovství a ve forenzní oblasti. Dalším …