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 44 for “"Mutant allele"”.
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Molecular Genetic Analysis of Spinocerebellar Ataxia Type 7 and a Further Study on the RNA Interference Analysis
… which encodes Ataxin-7 protein. Normal ATXN7 alleles contain 4-35 CAG repeats. Expansion of CAG repeat in the mutant allele ranges from 36 to 460, with repeat length inversely correlated to the age of disease onset. However intermediate size alleles (having 28-35 CAG repeats) can be converted …
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Function of two closely related fibroblast growth factors in early mesoderm development of <em>Drosophila melanogaster</em>
… In an approach of functional analysis, a single mutant allele of ths was generated, ths759, for comparison of the single mutant conditions of ths and the null mesodermal cells to migrate and differentiate in a precise pattern.
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Replicación cromosómica en presencia de una Nucleósidodifosfato reductasa codificada por el alelo nrda101 de Escherichia coli
The nrdA101 mutant allele codes for an NDP reductase (the only specific enzyme required for the enzymatic synthesis of the precursors of DNA) which is inactivated in 2 minutes at 42°C in vitro. However, an nrdA101 mutant strain is able to synthesize DNA at 42ºC during 150 minutes in presence of …
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Sequences and factors required for 5' splice site selection in Schizosaccharomyces pombe
… (1 through 6) and examined the ability of each mutant allele to support growth as the sole copy of U1 in S. pombe. Splicing assays performed on RNA from cells harboring viable alleles indicate that the 5$\sp\prime$ end of U1 snRNA plays an extremely critical role in S. pombe splicing.
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Genetic and Molecular Analysis of the Rj(7) Gene in Soybean Using Pcr-Based Technologies
The Williams-derived hypernodulating NOD mutants and the Enrei-derived En6500 mutant are genetically controlled by single recessive genes. However, from our previous studies it was unclear whether there exists an additional mutant gene independent of rj7 conferring mutations in the NOD2-4 and …
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Chromosomal instability and tumorigenesis : genetic analysis of the murine spindle checkpoint gene Mps1
… I generated mice containing a conditional mutant allele of the spindle checkpoint kinase MPS1 (MpslA) and induced its expression in thymocytes. I show that MpslA is a partial loss of function allele for spindle checkpoint activation which results in chromosome missegregation in MEFs and …
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Exploring the role of the GR/RTE1 family in ethylene signaling
… in tomato and complementation of the rte1-3 mutant allele indicates that SlGR and SlGRL1 influence distinct ethylene responses suggesting the existence of separate ethylene-signaling modules in tomato that are influenced either individually by SlGR or SlGRL1 or together by both proteins. In …
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Investigating the anti-leukaemic effect of tamoxifen in the myeloproliferative neoplasms
… clinical study (Effects of TAMoxifen on the Mutant Allele Burden and Disease Course in Patients with MyeloprolifeRatIve Neoplasms, TAMARIN). In the TAMARIN study, the safety and activity of tamoxifen on reducing mutant allele burden was observed in a subset of MPN patients. This thesis …
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Oct4 and Sox2 regulate methylation at the Igf2/H19 imprinting control region
… Oct4 binding. Maternal transmission of this mutant allele resulted in partial methylation of the maternal ICR in somatic tissues but had little effect on imprinted expression of H19 and Igf2. Although a subset of oocytes showed partial methylation of the mutant ICR, maternally inherited …
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Somatic Mutation Detection in Leukemia-Derived Circulating DNA: Utility in Monitoring Clonal Dynamics and Disease Response in Pediatric Acute Lymphoblastic Leukemia
… of Ct-DNA analysis to track the change in the mutant allele fraction (MAF) across multiple time points as well as, to detect mutations in Flowcytometry (FC) MRD-negative patients. Taken together, sequential analysis of Ct-DNA in plasma demonstrates a role, as a non-invasive technique, for …
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REGULATION OF DEFENSE RESPONSES MEDIATED BY BON1 AND BAP2 IN ARABIDOPSIS THALIANA
… A. thaliana, the loss-of-function (LOF) bon1-1 mutant allele exhibits a growth defect phenotype (dwarfed plant). bon1-1 leads to constitutive activation of SNC1 which compromises normal plant growth. BON1 has been shown to interact with two other proteins: BON1-associated protein 1 and 2 (BAP1, …
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The role of Xist RNA in the maintenance of X chromosome inactivation
… was investigated by generating a conditional allele of the Xist gene. A system was set up in which reactivation of two X-linked genes, the endogenous Hprt gene and an X-linked GFP transgene, can be quantitatively assessed. Mouse embryonic fibroblasts derived from mice carrying the conditional …
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SPAG16 is a Bifunctional Gene Regulating Male Fertility
… causes arrest of spermatogenesis, and the mutant allele is not transmitted to offspring by chimeric males. Mice homozygous for a knock-out of SPAG16L alone are infertile, but show no abnormalities in spermatogenesis. The defects seen in chimeric Spag16 mutant mice, unaccounted for by loss …
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Growth and Carboxysome Composition of the Csosia Pore Mutants of <i>Halothiobacillus neapolitanus</i>
… size and charge of the pore, respectively. Two mutants of Halothiobacillus neapolitanus were generated in which the wild type csoSJA gene was replaced with the desired mutant allele. The first mutant, G42L, contained a Leu residue at position 42 (Phe-Val-Leu-GlyGly- Tyr) and was predicted to …
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Characterisation of non-essential genes required for survival under conditions of DNA stress
… yeast, S. pombe using the hypomorphic rad4-116 allele. Synthetic genetic analysis was used to identify processes required for cell survival under conditions of DNA replication stress. With the aim of mapping the genetic interactions of rad4 and its mutant allele, rad4-116, several genes that …
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Interaction between DVAP, the orthologue of human VAPB, and Drosophila Sac1
… aggregates induced by the expression of the ALS8-mutant allele of DVAP, and it does not localize to its original place in the cell. All together these results suggest that in ALS8 hVAPB seems to have a dominant negative effect on Sac1. Sac1 mislocalization could inhibit the dephosphorylation of …
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Accumulation of Somatic Mutations in Normal Human Colonic Epithelium
… demethylase KDM6A generate very large areas of mutant epithelium in aged humans. Further, targeted sequencing revealed dramatic expansion of KRAS-mutant clones in histologically normal colon. Patches may arise from crypt fission and fusion events. Using a clonal mark based on mild periodic …
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Mummy regulates slit-robo signaling to mediate axon guidance in drosophila embryonic nerve cord
… the longitudinal axon tracts. A Slit transport mutant allele mmyslm was discovered, revealing a novel role for the Mummy protein in regulating Slit-Robo signaling pathway during development. Mummy regulates Slit post-translationally during nerve cord development. Lack of functional Mummy …
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Impact of Kras/Nras Mutational Heterogeneity On Clinical Outcomes In Colorectal Cancer
… advanced, we are discovering atypical and low allele frequency mutations. We aimed to evaluate how NGS can optimally define <em>RAS</em> mutant CRC and the role of relative mutant allele frequency (rMAF) as a biomarker.</p> <p><strong>Methods: </strong>Using institutional and public cohorts of …
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Influence of mitochondrial and nuclear genomic dysfunction on lipid homeostasis in lipidemic diseases
… association with DDD status, cases showed higher mutant allele frequencies at select mitochondrial and nuclear variants. These findings provide preliminary evidence of population specific mitochondrial and nuclear genetic variation in a South African cohort and potentially link mtDNA variants to …
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