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 31 for “"Genetic Modifiers"”.
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Variable methylation of endogenous retroviruses: epigenetic inheritance, environmental modulation, and genetic modifiers
… the Avy allele exhibits transgenerational epigenetic inheritance, susceptibility to environmental exposures, and strain-specific modulation. A recent screen conducted in the C57BL/6J mouse strain identified a subset of IAPs that show variable methylation levels across genetically identical …
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Investigation of natural genetic modifiers of meiotic crossover frequency in Arabidopsis thaliana
… crossover, is a vital mechanism for generating genetic diversity in sexually reproducing populations. Recombination events are non-uniform across the genome, due to a variety of influences including chromatin structure, DNA-sequence, epigenetic marks and interference from other recombination …
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An in vivo study of novel genetic modifiers in autosomal recessive polycystic kidney disease (ARPKD)
… Polycystic Kidney Disease (ARPKD) is a rare genetic disorder that manifests with bilaterally enlarged, cystic kidneys, hepatic fibrosis and pulmonary hypoplasia, with death reported in around 30 – 50% of affected neonates. Mutations in PKHD1 and DZIP1L have been identified as causative genes …
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Identification of low-penetrance alleles, genetic modifiers and mutation analysis in familial breast cancer cases
… <i>BRCA2</i> mutations suggests the presence of genetic modifiers of this risk. Therefore, the identification and characterization of as many as possible of genetic factors is crucial for risk prediction in members of breast cancer families. <br></br><br></br> In this context, the aim of this …
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A Search For Genetic Modifiers Responsible For Congenital Heart Disease Variability In The Presence Of Nkx2-5 Haploinsufficiency
… and presentation likely due to multiple genetic and environmental risk factors. To identify causative factors and interactions responsible for variability in heart development, greater than 4,200 hearts from Nkx2-5 heterozygous knockout mice have been collected and examined. Nkx2-5+/- …
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Investigation into Tissue-Specific Mechanisms of Mitochondrial Dysfunction: Models of SUCLA2 Deficiency and a Screen for Potential Genetic Modifiers
… proven difficult due to the wide clinical and genetic heterogeneity associated with the disorders. Therefore, this project seeks to investigate pathways of mitochondrial dysfunction using two genetic approaches. First, reverse genetics tools are used to generate tissue-specific mouse models of …
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Study of genetic modifiers of fetal hemoglobin and mechanisms of hydroxyurea-induced γ-globin expression in sickle cell disease
… along tropical equatorial Africa. Several genetic variants have since been associated with fetal hemoglobin (HbF), the disease-ameliorating globin protein, including variants at three principal loci; BCL11A, HBS1L-MYB intergenic polymorphisms (HMIP1/2) and the β-globin gene cluster, which …
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Identifying the Genetic Factors in Natural Genome Backgrounds That May Modulate Phenotypic Outcomes in C. elegans
… causing this phenotypic heterogeneity is the genetic background that affects the primary mutation. This background is characterized by genetic modifiers - genes that interact and influence the role of causative gene by ameliorating or exacerbating a trait or disease. This thesis aims to …
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Investigating the genetic basis of cisplatin-induced ototoxicity in adult South African patients
… approaches were employed to explore the role of genetics in cisplatin response amongst South African cancer patients (n = 214). Using a candidate gene approach, which investigated variants in six genes which are involved in drug transport and processing, potential modifiers in the genes nuclear …
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Using yeast to study neurodegenerative diseases : amyloid formation as a protective mechanism and a new Alzheimer's disease model
… toxicity, conducted two genome-ide screens for modifiers and found that Rnq1 induced a G2/M cell cycle arrest. Rnq1 overexpression resulted in the mislocalization of the core spindle pole body component Spc42 to the IPOD and an unduplicated spindle pole body. In mammalian cells aggresomes …
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Exacerbations, health status and sibling pair comparisons in severe Alpha-1-Antitrypsin Deficiency
… phenotype may also be influenced by other genetic modifiers. These results provide a firm basis upon which to design, power and implement trials of interventions that may reduce exacerbations and improve health status in patients. Furthermore sibling pairs, particularly those with …
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Machine Learning Approaches for Characterizing ALS Disease Progression
… of ALS might help identify environmental or genetic modifiers of disease that could be targeted therapeutically. Despite the importance of accurately modeling ALS progression, current computational methods fail to capture the complexity of disease progression. In this thesis, I describe …
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Role of the adaptor protein, beta-arrestin1, in the Notch signaling pathway
… blood cells, blood vessels, gut, and skin. Many genetic modifiers of the Notch signaling pathway have been identified, including some which act at the membrane and others in the nucleus. One such member is Deltex, an E3 ubiquitin ligase, which was originally identified as a modifier of Notch in a …
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Multipronged Approach to Study Glaucoma-Associated Phenotypes
… these challenges. First, we used a novel systems genetics approach to identify and validate genetic modifiers of IOP using the enlarged BXD family of strains in combination with human GWAS glaucoma cohorts. This will pave the way for improved drug development tailored to individual genotypes for …
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Characterising the Drosophila extracellular superoxide Dismutase gene
… SOD activity; v) demonstrate the appearance of genetic modifiers in the sod3<br/>hypomorph. The findings of this report and further studies on the Drosophila sod3 gene<br/>should encourage the re-evaluation of the previous work concerning SOD’s influence<br/>on disease states and lifespan …
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Personalised Medicine for Non-Alcoholic Fatty Liver Disease
… cancer. This thesis also aims to identify genetic modifiers of NAFLD risk in Scottish and South Indian populations.<br/><br/>Data from three retrospective Scottish cohorts with electronic health records (EHRs) were analysed in the current thesis. These were the GoDARTS, SHARE and Tayside …
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Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
Most known genetic causes of severe childhood developmental disorders are rare, deleterious, protein-coding changes that cause Mendelian disorders. Children with these disorders typically show early-onset impairment in growth, learning and adaptive behaviours. Linkage and whole exome sequencing …
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The genetic interactions of PKHD1 and ATMIN in autosomal recessive polycystic kidney disease (ARPKD)
… relationships. It has been proposed that genetic modifiers may influence disease severity. Next-generation sequencing (NGS) using ChIP-Seq and RNA-Seq techniques in mouse kidneys and intermedullary collecting duct (mIMCD3) cells identified new transcriptional targets of Atmin, which did …
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In Vivo Identification of SLE1B: LY108 Mediates Autoantibody Production
… (B6) alleles of Ly108 on the B6 and B6.Sle1b genetic background, respectively. The B6 allele of Ly108 suppresses ANA production on the lupus-susceptible B6.Sle1b background while the 129 allele induces ANA on the lupus-resistant B6 genome. Taken together, these data identify Ly108 as a …
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