Дисертації з теми "Genotype and Phenotype Relationship"
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Kemble, Henry. "The genotype-phenotype relationship across different scales." Thesis, Sorbonne Paris Cité, 2018. http://www.theses.fr/2018USPCC178/document.
Повний текст джерелаWith the molecular revolution in Biology, a mechanistic understanding of the genotype-phenotype relationship became possible. Recently, advances in DNA synthesis and sequencing have enabled the development of deep-mutational scanning experiments, capable of scoring comprehensive libraries of genotypes for a variety of phenotypes over the length of entire genes. Such datasets are not only interesting in themselves, but also allow rigorous testing of quantitative phenotypic models. We used this technology to characterise sequence-fitness maps for 3 model bacterial systems: a global regulator, CRP, an antibiotic-resistance enzyme, β-lactamase, and a small metabolic pathway, consisting of the enzymes AraA and AraB. These different systems were chosen to illuminate the roles of different mechanistic features in shaping the genotype-fitness relationship (regulatory wiring, protein stability and metabolic flux). We find that smooth patterns of fitness effects tend to prevail over idiosyncrasy, indicating that much of the genotype-fitness relationship could be understood from the global shape of smooth underlying phenotype-fitness functions. On the flip side, we see that characterising the genotype-fitness relationship in different systems can be a powerful way to glean phenotypic insights
Jacques, Adam Matthew. "Hypertrophic and dilated cardiomyopathies, the relationship of genotype to phenotype." Thesis, Imperial College London, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.550457.
Повний текст джерелаO'Brien, Kirtsy K. "Genotype - phenotype relationships in late onset dementia." Thesis, University of Newcastle Upon Tyne, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.402161.
Повний текст джерелаVrcelj, Katarina. "Genotype and phenotype relationships in neurodevelopmental disorders." Thesis, University of Oxford, 2017. http://ora.ox.ac.uk/objects/uuid:a7a9d22c-c92d-4078-9065-b9a9275c49a9.
Повний текст джерелаSquance, Michael Graham. "Computational modelling of the relationship between Miscanthus genotype, phenotype and environment." Thesis, Aberystwyth University, 2014. http://hdl.handle.net/2160/ca10d87a-2e3e-4e35-b156-7bdb80c3efb1.
Повний текст джерелаBrunklaus, Andreas. "Genotype phenotype relationships in SCN1A related childhood epilepsies." Thesis, University of Glasgow, 2013. http://theses.gla.ac.uk/4518/.
Повний текст джерелаJeerooburkhan, Noorjahan Bibi. "Phenotype and genotype relationship in nitric oxide and pterin pathways in man." Thesis, University College London (University of London), 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.269759.
Повний текст джерелаHarris, Tegan Maree. "B-lactamase-mediated resistance to antimicrobials : the relationship between genotype and phenotype." Thesis, Queensland University of Technology, 2014. https://eprints.qut.edu.au/77835/1/Tegan_Harris_Thesis.pdf.
Повний текст джерелаHart, Lesley Ruth. "Dissecting the genotype to phenotype relationships of genomic disorders." Thesis, University of Sussex, 2013. http://sro.sussex.ac.uk/id/eprint/47112/.
Повний текст джерелаHartman, Deirdre. "Investigation of Genotype-Phenotype relationships of sodium control mechanisms in hypertension." Thesis, St George's, University of London, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.498075.
Повний текст джерелаFlanagan, S. E. "Genotype/phenotype relationships in diabetes & hyperinsulinism resulting from KATP channel mutations." Thesis, Exeter and Plymouth Peninsula Medical School, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.700489.
Повний текст джерелаUnderwood, M. I. "The relationship between ADAMTS13 genotype and phenotype in congenital thrombotic thrombocytopenic purpura and characterisation of ADAMTS13 mutants." Thesis, University College London (University of London), 2015. http://discovery.ucl.ac.uk/1462706/.
Повний текст джерелаPrinz, Stephanie Jeanette [Verfasser]. "Analysis of Genotype-Phenotype Relationships based on Drug Side Effects, Disease Symptoms and Mouse Phenotypic Traits / Stephanie Jeanette Prinz." München : Verlag Dr. Hut, 2016. http://d-nb.info/1106593456/34.
Повний текст джерелаCooper-Knock, Johnathan. "Characterisation of genotype-phenotype relationships in ALS associated with hexanucleotide repeat expansion of C9orf72." Thesis, University of Sheffield, 2015. http://etheses.whiterose.ac.uk/9613/.
Повний текст джерелаFarrell, Sam Hanno. "Adaptive evolution in the Pseudomonas fluorescens Wsp signalling pathway : exploring the relationship between genetic cause and phenotypic effect." Thesis, University of Manchester, 2013. https://www.research.manchester.ac.uk/portal/en/theses/adaptive-evolution-in-the-pseudomonas-fluorescens-wsp-signalling-pathway-exploring-the-relationship-between-genetic-cause-and-phenotypic-effect(d4fc7a28-6da0-477b-9315-34f4b4d71f76).html.
Повний текст джерелаRoh, Hyung-Keun. "Drug metabolic capacity in Koreans : CYP2D6 & CYP2C19 pheno- and genotype relationships in healthy volunteers and in patients /." Stockholm, 2002. http://diss.kib.ki.se/2002/91-7349-169-1.
Повний текст джерелаDuarte, Kévin. "Du génotype au phénotype : Analyse comparée de mutations du gène de déficience intellectuelle PAK3." Thesis, Université Paris-Saclay (ComUE), 2019. http://www.theses.fr/2019SACLS511.
Повний текст джерелаIntellectual Disability (ID) is often associated with other morphological and psychiatric clinical signs, but this comorbidity is poorly characterized for ID associated with a given gene. Thus mutations of the p21-activated kinase 3 (PAK3) gene are responsible for a broad clinical spectrum, ranging from mild ID to severe ID, sometimes associated with brain malformations. We hypothesize that different mutations of the same gene may affect various biochemical parameters and differentially affect the signaling pathways involved in synaptic plasticity and brain development. To validate our hypothesis, we characterized a new mutation responsible for a severe intellectual disability associated with agenesis of the corpus callosum and microcephaly. This mutation suppresses kinase activity, does not affect protein stability and increases the interaction with a GEF of the PIX family. These latest results identify a new signaling pathway impacted by certain PAK3 mutations. The expression of this variant modifies the cellular morphology and the dynamics of the focal adhesions, as well as cell migratory properties, which could link the biochemical defects to those of certain cell functions. Interestingly, these features are also found for another variant responsible for a very similar severe clinical spectrum. We have also characterized other mutations associated with less severe phenotypes. The synthesis of our results allows us to propose an explanatory model of the genotype-phenotype relationship integrating neurodevelopmental and synaptic plasticity defects for intellectual disability and other clinical traits associated to the PAK3 gene mutations
Pontius, Sarah E. "Genotype-Phenotype: Investigations in Typology." Cincinnati, Ohio : University of Cincinnati, 2007. http://www.ohiolink.edu/etd/view.cgi?acc%5Fnum=ucin1179414436.
Повний текст джерелаTitle from electronic theses title page (viewed July 16, 2007). Includes abstract. Keywords: architecture; typology; therapeutic; riding stable Includes bibliographic references.
Sigwalt, Anastasie. "Origines génétiques de la variation de tolérance au stress au sein de populations naturelles de levures." Thesis, Strasbourg, 2016. http://www.theses.fr/2016STRAJ024/document.
Повний текст джерелаA central issue of modern genetics is to better understand how genetic variations between individuals within a species influence the phenotypic diversity and the evolution. The budding yeast Saccharomyces cerevisiae as a model organism offers a unique opportunity to address this issue through the dissection of the genetic architecture of stress tolerance across a population. My study reveals an additional level of complexity of the genotype-phenotype relationship. Indeed, simple Mendelian traits (monogenic determinism) may become more complex (multigenic determinism) depending on genetic background due to the action of modifier genes, epistatic interactions and / or suppressors. However, evolutionary processes can be very different depending on the species. That is why a non-conventional yeast species namely Lachancea kluyveri (formerly S. kluyveri) was also studied. This species distantly related to S. cerevisiae has a higher genetic diversity and remains a relatively unexplored resource. The exploration of the phenotypic diversity and the determination of the genetic origins initiated in this study lay foundations for the analysis of the genetic architecture of traits and the evolution of the genotype-phenotype relationship within diverse yeast species
Habib, Farhat Abbas. "Genotype-phenotype correlation using phylogenetic trees." Columbus, Ohio : Ohio State University, 2007. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1187297400.
Повний текст джерелаBurke, Georgina. "Genotype - phenotype correlations in congenital myasthenia." Thesis, University of Oxford, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.437178.
Повний текст джерелаGhasimi, Soma. "Genotype-phenotype studies in brain tumors." Doctoral thesis, Umeå universitet, Onkologi, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-83185.
Повний текст джерелаCancer research foundation in northern Sweden and Lions cancer research foundation at Umeå university
Habib, Farhat. "Genotype-phenotype correlation using phylogenetic trees." The Ohio State University, 2007. http://rave.ohiolink.edu/etdc/view?acc_num=osu1187297400.
Повний текст джерелаJordan, Natasha Patricia. "Genotype-phenotype relations in lupus nephritis." Thesis, King's College London (University of London), 2014. http://kclpure.kcl.ac.uk/portal/en/theses/genotypephenotype-relations-in-lupus-nephritis(645d8e22-23b7-40d5-8c8d-23efeabf5d56).html.
Повний текст джерелаDingle, Kamaludin. "Probabilistic bias in genotype-phenotype maps." Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:eba8801e-182e-42f5-aa0a-d3d914fd7923.
Повний текст джерелаSouthward, Katie Hannah. "Genotype, phenotype and outcomes in colorectal cancer." Thesis, University of Leeds, 2016. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.713695.
Повний текст джерелаBrais, Bernard. "Oculopharyngeal muscular dystrophy : from phenotype to genotype." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape11/PQDD_0002/NQ44369.pdf.
Повний текст джерелаWu, Chuang. "Phenotype Inference from Genotype in RNA Viruses." Research Showcase @ CMU, 2014. http://repository.cmu.edu/dissertations/457.
Повний текст джерелаCorreia, Annapaula. "Linking phenotype to genotype in Pseudonas aeruginosa." Thesis, University of East Anglia, 2016. https://ueaeprints.uea.ac.uk/65369/.
Повний текст джерелаOkoro, Chinyere Kyna. "Invasive Salmonella typhimurium : linking phenotype to genotype." Thesis, University of Cambridge, 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.607714.
Повний текст джерелаO'Connor, Timothy. "Detecting evolutionary dynamics of genotype-phenotype associations." Thesis, University of Cambridge, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.609119.
Повний текст джерелаGardner, Catherine Joanne. "Genotype-phenotype correlation in sickle cell disease." Thesis, King's College London (University of London), 2017. https://kclpure.kcl.ac.uk/portal/en/theses/genotypephenotype-correlation-in-sickle-cell-disease(07a190be-c88a-41f2-8e74-e063d85919a3).html.
Повний текст джерелаAdam, Laura. "Mapping Genotype to Phenotype using Attribute Grammar." Diss., Virginia Tech, 2013. http://hdl.handle.net/10919/51768.
Повний текст джерелаPh. D.
Al, Maani Noor Walid Salem. "Refining genotype-phenotype correlation in epidermolysis bullosa." Thesis, King's College London (University of London), 2017. https://kclpure.kcl.ac.uk/portal/en/theses/refining-genotypephenotype-correlation-in-epidermolysis-bullosa(0efb4606-e7eb-422c-9402-28c29de6ebfc).html.
Повний текст джерелаLuu, Tien Dao. "Développement d'une infrastructure d'analyse multi-niveaux pour la découverte des relations entre génotype et phénotype dans les maladies génétiques humaines." Phd thesis, Université de Strasbourg, 2012. http://tel.archives-ouvertes.fr/tel-00866371.
Повний текст джерелаIbáñez, Marcelo Esther. "Evolutionary dynamics of populations with genotype-phenotype map." Doctoral thesis, Universitat Politècnica de Catalunya, 2014. http://hdl.handle.net/10803/284931.
Повний текст джерелаEn aquesta tesi es desenvolupa un model multi-escala de la dinàmica evolutiva d'una població de cèl·lules, tenint en compte la correspondència entre el genotip i el fenotip determinat per un model de la xarxa de regulació genètica. Estudiem les propietats topològiques de les xarxes genotip-fenotip obtingudes a partir del model multi-escala. D'altra banda, s'estudia el problema de la fugida evolutiva i la supervivència, tenint en compte una aplicació entre genotip i fenotip. Una característica destacable de les poblacions amb aplicació genotip-fenotip és que les pressions selectives actuen sobre els fenotips, en lloc dels genotips. El nostre model multi-escala genera l'evolució d'una xarxa genotip-fenotip representada per un graf pseudo-bipartit, el qual permet formular una definició topològica dels conceptes de robustesa y capacitat evolutiva. A més a més, estudiem el problema de fugida evolutiva de poblacions de cèl¿lules amb una aplicació genotip-fenotip, basat en en un procés de ramificació multi-tipus. Presentem un anàlisi comparatiu entre les xarxes de genotip-fenotip obtingudes a partir del model multi-escala i les xarxes construïdes assumint un espai de genotips de tipus hipercub regular. Comparem els efectes de la probabilitat de fugida i la freqüència d'escapament associades a la dinàmica evolutiva entre ambdues classes de grafs. Anem més enllà de l'estudi de fugida evolutiva mitjançant l'anàlisi de la supervivència a llarg plaç condicionat a fugir. Els enfocaments tradicionals per a l'estudi de la fugida o escapament suposen una taxa de reproducció en el genotip de fugida propera a infinit. Per tant, la supervivència és equivalent a la fugida. Aquí analitzem el procés de supervivència suposant fugida aprofitant el fet que l'entorn natural del problema de fugida dota al sistema amb una separació d'escales de temps: un règim inicial, de temps ràpid, on la fugida realment es produeix; seguit d'una dinàmica molt més lenta dins de la (xarxa neutra del) fenotip de fugida. La probabilitat de supervivència s'analitza en termes de les característiques topològiques de la xarxa neutra del fenotip de fugida
Efremov, Dimitar Georgi. "Correlation of genotype and phenotype in [beta]-thalassemia." [Maastricht : Maastricht : Rijksuniversiteit Limburg] ; University Library, Maastricht University [Host], 1994. http://arno.unimaas.nl/show.cgi?fid=6614.
Повний текст джерелаBessant, avid Alfred Roger. "Genotype-phenotype correlation in the related retinal dystrophies." Thesis, University College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.406179.
Повний текст джерелаSaville, Robert Jack. "Understanding DELLA in wheat : linking genotype to phenotype." Thesis, University of East Anglia, 2011. https://ueaeprints.uea.ac.uk/32675/.
Повний текст джерелаChinoy, Hector. "A correlation of genotype and phenotype in myositis." Thesis, University of Manchester, 2007. http://www.manchester.ac.uk/escholar/uk-ac-man-scw:141949.
Повний текст джерелаMatthews, E. L. "The skeletal muscle channelopathies : phenotype, genotype and pathogenesis." Thesis, University College London (University of London), 2014. http://discovery.ucl.ac.uk/1446912/.
Повний текст джерелаGordon, Kristiana. "Refining the phenotype and genotype of primary lymphoedema." Thesis, St George's, University of London, 2014. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.676101.
Повний текст джерелаSailer, Zachary. "Predicting Phenotypes in Sparsely Sampled Genotype-Phenotype Maps." Thesis, University of Oregon, 2019. http://hdl.handle.net/1794/24231.
Повний текст джерела2020-01-11
Groth, Philip. "Knowledge management and discovery for genotype/phenotype data." Doctoral thesis, Humboldt-Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät II, 2009. http://dx.doi.org/10.18452/16033.
Повний текст джерелаIn diseases with a genetic component, examination of the phenotype can aid understanding the underlying genetics. Technologies to generate high-throughput phenotypes, such as RNA interference (RNAi), have been developed to decipher functions for genes. This large-scale characterization of genes strongly increases phenotypic information. It is a challenge to interpret results of such functional screens, especially with heterogeneous data sets. Thus, there have been only few efforts to make use of phenotype data beyond the single genotype-phenotype relationship. Here, methods are presented for knowledge discovery in phenotypes across species and screening methods. The available databases and various approaches to analyzing their content are reviewed, including a discussion of hurdles to be overcome, e.g. lack of data integration, inadequate ontologies and shortage of analytical tools. PhenomicDB 2 is an approach to integrate genotype and phenotype data on a large scale, using orthologies for cross-species phenotypes. The focus lies on the uptake of quantitative and descriptive RNAi data and ontologies of phenotypes, assays and cell-lines. Then, the results of a study are presented in which the large set of phenotype data from PhenomicDB is taken to predict gene annotations. Text clustering is utilized to group genes based on their phenotype descriptions. It is shown that these clusters correlate well with indicators for biological coherence in gene groups, such as functional annotations from the Gene Ontology (GO) and protein-protein interactions. The clusters are then used to predict gene function by carrying over annotations from well-annotated genes to less well-characterized genes. Finally, the prototype PhenoMIX is presented, integrating genotype and phenotype data with clustered phenotypes, orthologies, interaction data and other similarity measures. Data grouped by these measures are evaluated for theirnpredictiveness in gene functions and phenotype terms.
Tian, Liang. "Metabolic characterization of an adaptively evolved cell factory for continuous production of 1.3-propanediol and development of a new catalyst for 1.3 propanediol and acetone co-productions." Thesis, Compiègne, 2014. http://www.theses.fr/2014COMP2132.
Повний текст джерелаMicroorganisms have the ability to adapt rapidly to different environmental or metabolic constraints, but the detailed mechanism and the principles of this adaptive response in microorganism is poorly understood at the genetic, biochemical, and metabolic levels. Here, the glycerol pathway from S. cerevisiae and the B12-independent C. butyricum 1,3-PD pathways were introduced into E. coli and its central metabolic network was restructured to couple the production of 1.3-propanediol to the growth of the microorganism. This strain was grown in conditions favouring adaptive evolution for around 1000 hours. An evolved population was selected under optimal conditions in mineral medium. Comparing with the original strain, it can convert glucose to 1.3-PD at high molar yield (94 %) and its productivity was also significantly increased. Comparative whole genome sequencing technology was used to identify the genetic mutations and five mutating genes lpd, glpR, dhaK, nagD and GPP2 were discovered. All the mutations were further analysed and characterized to disclose their changes after the evolution and to elucidate their influence in the whole metabolic engineering network. To optimize the production of 1.3-PD further, we plan to convert the co-production of acetate to acetone. Indeed, the 1.3 propanediol production was hampered by the acetate inhibition on growth, and acetone is a valuable product which is less toxic thyan acetate. Both the acetate-dependent and independent pathways were tested to produce acetone and some modifications to adapt the global metabolic network were performed. Several strategies were applied to ameliorate the performance of acetone production. Finally, the bottleneck of the acetate-dependent acetone pathway under anaerobic condition was indentify and the acetate-independent acetone pathway still need to be improve with the selection of an evolved or mutant enzyme with high short-chain acyl-CoA thioesterase activity
Johansson, Camilla. "Exploring genotype to phenotype correlations in Duchenne muscular dystrophy." Thesis, KTH, Skolan för bioteknologi (BIO), 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-215302.
Повний текст джерелаSousa, Ribeiro Maria Leticia de. "ß-Thalassemia and HB lepore heterozygotes: phenotype-genotype correlation." [Maastricht : Maastricht : Universiteit Maastricht] ; University Library, Maastricht University [Host], 1997. http://arno.unimaas.nl/show.cgi?fid=5822.
Повний текст джерелаMa, Shiu-kwan Edmond, and 馬紹鈞. "Genotype phenotype correlation of {221}-thalassaemia in the Chinese." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2004. http://hub.hku.hk/bib/B29532656.
Повний текст джерелаDev, Borman Arundhati. "A genotype-phenotype study of childhood onset retinal dystrophies." Thesis, University College London (University of London), 2016. http://discovery.ucl.ac.uk/1476347/.
Повний текст джерелаAnderson, Craig. "Mechanistic bases of metal tolerance : linking phenotype to genotype." Thesis, Cardiff University, 2012. http://orca.cf.ac.uk/43776/.
Повний текст джерела