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Tesi sul tema "Mutation"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 25 luglio 2025

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1

Komp, Lindgren Patricia. "Mutations and Mutation Rate in the Development of Fluoroquinolone Resistance." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis, 2007. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-8275.

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2

Ibrahim, Daniel Murad. "ChIP-seq reveals mutation-specific pathomechanisms of HOXD13 missense mutations." Doctoral thesis, Humboldt-Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2015. http://dx.doi.org/10.18452/17102.

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Abstract (sommario):

Mutationen von Transkriptionsfaktoren (TF) betreffen nicht nur die Funktion des TFs, sondern auch die Expression seiner Zielgene und liegen häufig angeborenen Entwicklungsdefekten zugrunde. Über 20 Mutationen in HOXD13, einem TF der die Entwicklung der Extremitäten kontrolliert, sind bisher als Ursache verschiedenartiger Extremitätenfehlbildungen entdeckt worden. Eine molekularbiologische Grundlage für die Vielgestaltigkeit der HOXD13-Mutationen ist jedoch unbekannt. Die bisherigen Methoden zur funktionellen Charakterisierung von TF-Mutationen ermöglichten eine lediglich eingeschränkte Inte

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3

Hagman, Hans. "Mutation Testing : A comparison of mutation selection methods." Thesis, Högskolan i Skövde, Institutionen för kommunikation och information, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-6569.

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Abstract (sommario):

Software is all around us in our lives in the industrialized world, and we as a society and individuals need it to function correctly. Software testing fills the role of performing behavior audits, to guide the correction of the software to its intended behavior. The consequences of faulty software can range to the late arrival of trains, to nuclear meltdowns. This places quality requirements on the software of various levels. Program based mutation testing provides a high level of faultfinding capability. It does this by injecting many synthetic faults into the code under test, as described b

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4

Krasovec, Marc. "Estimation des taux de mutation : implications pour la diversification et l'évolution du phytoplancton eucaryote." Thesis, Paris 6, 2016. http://www.theses.fr/2016PA066371/document.

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Les mutations sont la principale source de diversité sur laquelle agit la sélection pour permettre aux espèces de s'adapter. Les études de l'effet des mutations sur la survie et du taux de mutation sont donc essentielles pour mieux comprendre l'évolution. Par une approche d'expérience d'accumulation de mutations, nous étudions ces deux questions chez cinq modèles d'algues vertes (Ostreococcus tauri, O. mediterraneus, Bathycoccus prasinos, Micromonas pusilla, et Picochlorum RCC4223). Il est mis en évidence une diminution de la fitness au cours du temps en raison des mutations délétères, et une

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5

Krasovec, Marc. "Estimation des taux de mutation : implications pour la diversification et l'évolution du phytoplancton eucaryote." Electronic Thesis or Diss., Paris 6, 2016. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2016PA066371.pdf.

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Abstract (sommario):

Les mutations sont la principale source de diversité sur laquelle agit la sélection pour permettre aux espèces de s'adapter. Les études de l'effet des mutations sur la survie et du taux de mutation sont donc essentielles pour mieux comprendre l'évolution. Par une approche d'expérience d'accumulation de mutations, nous étudions ces deux questions chez cinq modèles d'algues vertes (Ostreococcus tauri, O. mediterraneus, Bathycoccus prasinos, Micromonas pusilla, et Picochlorum RCC4223). Il est mis en évidence une diminution de la fitness au cours du temps en raison des mutations délétères, et une

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6

Lee, Angela Waishan. "Hair-loss mutation (dep) caused by a mutation in palmitoyl transferase Zdhhc21." Thesis, University of Edinburgh, 2008. http://hdl.handle.net/1842/29217.

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The recessive hair loss mutant, dep, contains a mutation (del-233F) at the C-terminal of Zdhhc21. Wild-type Zdhhc21 has been shown to enhance palmitoylation of several specific substrates in a transfected cell assay. Zdhhc21 localises to the cis-Golgi, whereas the mutant protein is mislocalised and is inactive in palmitoylation. We verified the candidacy of Zdhhc21 by transgenic BAC rescue. Dep is characterised by progressive hair loss, hyperplasia of the sebaceous glands, the interfollicular epidermis and the outer root sheath. In-situ hybridisation and immunohistochemistry show that both wil

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7

Drechsel, Dieter. "Evolution and Mutation Physics." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2011. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-69962.

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Base rivalry arises at replication of monotonous DNA – sequences. Irreparable mutations can arise by tunnel processes if the developed energy is high enough. The tunnel probability depends not only on the base rivalry energy but also depends on the temperature of surroundings. The tunnel probability diminishes with decreasing temperature. The cytoplasm viscosity increases in the long term with decreasing temperature. The length of the monotonous sequence in which happens an irreparable mutation (caused by base rivalry) then will be larger than at higher temperatures. This means that the possib

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8

Duncan, Ishbel M. M. "Strong mutation testing strategies." Thesis, Durham University, 1993. http://etheses.dur.ac.uk/5771/.

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Mutation Testing (or Mutation Analysis) is a source code testing technique which analyses code by altering code components. The output from the altered code is compared with output from the original code. If they are identical then Mutation Testing has been successful in discerning a weakness in either the test code or the test data. A mutation test therefore helps the tester to develop a program devoid of simple faults with a well developed test data set. The confidence in both program and data set is then increased. Mutation Analysis is resource intensive. It requires program copies, with on

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9

Williamson, David. "Haemoglobin mutation and instability." Thesis, Open University, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.315297.

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10

Jia, Y. "Higher order mutation testing." Thesis, University College London (University of London), 2013. http://discovery.ucl.ac.uk/1401264/.

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Mutation testing is a fault-based software testing technique that has been studied widely for over three decades. To date, work in this field has focused largely on first order mutants because it is believed that higher order mutation testing is too computationally expensive to be practical. This thesis argues that some higher order mutants are potentially better able to simulate real world faults and to reveal insights into programming bugs than the restricted class of first order mutants. This thesis proposes a higher order mutation testing paradigm which combines valuable higher order mutan

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11

Maxwell, Megan Amanda, and n/a. "PEX1 Mutations in Australasian Patients with Disorders of Peroxisome Biogenesis." Griffith University. School of Biomolecular and Biomedical Science, 2004. http://www4.gu.edu.au:8080/adt-root/public/adt-QGU20040219.100649.

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The peroxisome is a subcellular organelle that carries out a diverse range of metabolic functions, including the b-oxidation of very long chain fatty acids, the breakdown of peroxide and the a-oxidation of fatty acids. Disruption of peroxisome metabolic functions leads to severe disease in humans. These diseases can be broadly grouped into two categories: those in which a single enzyme is defective, and those known as the peroxisome biogenesis disorders (PBDs), which result from a generalised failure to import peroxisomal matrix proteins (and consequently result in disruption of multiple metab

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12

Maxwell, Megan Amanda. "PEX1 Mutations in Australasian Patients with Disorders of Peroxisome Biogenesis." Thesis, Griffith University, 2004. http://hdl.handle.net/10072/366184.

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Abstract (sommario):

The peroxisome is a subcellular organelle that carries out a diverse range of metabolic functions, including the b-oxidation of very long chain fatty acids, the breakdown of peroxide and the a-oxidation of fatty acids. Disruption of peroxisome metabolic functions leads to severe disease in humans. These diseases can be broadly grouped into two categories: those in which a single enzyme is defective, and those known as the peroxisome biogenesis disorders (PBDs), which result from a generalised failure to import peroxisomal matrix proteins (and consequently result in disruption of multiple metab

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13

Curry, John Duncan. "Mutation monitoring in human populations." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp02/NQ40453.pdf.

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14

Meischl, Christof. "NADPH oxidases and mutation analysis." [S.l. : Amsterdam : s.n.] ; Universiteit van Amsterdam [Host], 2003. http://dare.uva.nl/document/69587.

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15

Jones, Emma. "Characterisation of the robotic mutation." Thesis, University of Oxford, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.400190.

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16

Warkentin, Matthias. "Exchange Graphs via Quiver Mutation." Doctoral thesis, Universitätsbibliothek Chemnitz, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:ch1-qucosa-153172.

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Inspired by Happel's question, whether the exchange graph and the simplicial complex of tilting modules over a quiver algebra are independent from the multiplicities of multiple arrows in the quiver, we study quantitative aspects of Fomin and Zelevinsky's quiver mutation rule. Our results turn out to be very useful in the mutation-infinite case for understanding combinatorial structures as the cluster exchange graph or the simplicial complex of tilting modules, which are governed by quiver mutation. Using a class of quivers we call forks we can show that any such quiver yields a tree in the ex

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17

Henderson, Shirley. "The achondroplasia mutation rate paradox." Thesis, Open University, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.394800.

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18

Bunyan, David J. "Mutation screening in human diseases." Thesis, University of Southampton, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.241905.

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19

Huang, Zhan. "Mutation for multi-agent systems." Thesis, University of York, 2016. http://etheses.whiterose.ac.uk/19270/.

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Abstract (sommario):

Although much progress has been made in engineering multi-agent systems (MAS), many issues remain to be resolved. One issue is that there is a lack of techniques that can adequately evaluate the effectiveness (fault detection ability) of tests or testing techniques for MAS. Another is that there are no systematic approaches to evaluating the impact of possible semantic changes (changes in the interpretation of agent programs) on agents' behaviour and performance. This thesis introduces syntactic and semantic mutation to address these two issues. Syntactic mutation is a technique that systemati

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20

Mathias, Shelley Frances. "Mutation selection using DNA technology." Thesis, University of Sussex, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.260060.

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21

Schafer, Robin. "A Structural Analysis of Mutation." Department of Linguistics, University of Arizona (Tucson, AZ), 1988. http://hdl.handle.net/10150/227234.

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22

Bennett, Lea-Christine. "Mutation screening and characterisation of mutational effects at transcript and protein level in cystic fibrosis /." [Bern] : [s.n.], 1999. http://www.ub.unibe.ch/content/bibliotheken_sammlungen/sondersammlungen/dissen_bestellformular/index_ger.html.

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23

Brandström, Mikael. "Bioinformatic analysis of mutation and selection in the vertebrate non-coding genome /." Uppsala : Acta Universitatis Upsaliensis Acta Universitatis Upsaliensis, 2007. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-8240.

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24

Smith, Matthew Liam Walker. "Mutation profiling in acute myeloid leukaemia." Thesis, Queen Mary, University of London, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.416112.

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25

Torkelson, Joel David. "Genome-wide hypermutation underlies adaptive mutation." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1997. http://www.collectionscanada.ca/obj/s4/f2/dsk3/ftp04/mq22682.pdf.

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26

Elhaji, Youssef A. "Androgen receptor mutation in breast cancer." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1997. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape11/PQDD_0002/MQ44162.pdf.

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27

Makriyianni, Ioli. "Mutation analysis of hereditary breast cancers." Thesis, McGill University, 2005. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=98760.

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Abstract (sommario):

Mitochondrial background. Recent studies on cancer have detected many mutations and much variability in the mitochondrial genome, particularly in the non-coding region (D-loop). The present study set out to sequence and examine the hypervariable region I (HVR-I) of the D-loop and transfer RNA Leucine (tRNA Leu) for mutations in breast cancer patients. Methods. Tumor and normal tissues from 17 patients that carry mutations in either BRCA1 (n = 11), BRCA2 (n = 3) or are non-carriers of mutations in either gene (n = 3) were examined by direct genomic sequencing of PCR products. Results. We found

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28

Manson, Ania Louise. "Modelling the cystic fibrosis RII7H mutation." Thesis, Imperial College London, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.300628.

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29

Korejo, Imtiaz Ali. "Adaptive mutation operators for evolutionary algorithms." Thesis, University of Leicester, 2012. http://hdl.handle.net/2381/10315.

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Evolutionary algorithms (EAs) are a class of stochastic search and optimization algorithms that are inspired by principles of natural and biological evolution. Although EAs have been found to be extremely useful in finding solutions to practically intractable problems, they suffer from issues like premature convergence, getting stuck to local optima, and poor stability. Recently, researchers have been considering adaptive EAs to address the aforementioned problems. The core of adaptive EAs is to automatically adjust genetic operators and relevant parameters in order to speed up the convergence

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30

Sandrock, Kirstin, Ralf Knöfler, Andreas Greinacher, et al. "Novel Mutation in Bernard-Soulier Syndrome." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-136606.

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Background: Bernard-Soulier syndrome (BSS) is a severe congenital bleeding disorder characterized by thrombocytopenia, thrombocytopathy and decreased platelet adhesion. BSS results from genetic alterations of the glycoprotein (GP) Ib/IX/V complex. Methods: We report on a patient demonstrating typical BSS phenotype (thrombocytopenia with giant platelets, bleeding symptoms). However, BSS was not diagnosed until he reached the age of 39 years. Results: Flow cytometry of the patient’s platelets revealed absence of GPIb/IX/V receptor surface expression. In addition, immunofluorescence analysis of p

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31

Tabaries, Sébastien. "Gène Hoxa5 : régulation et mutation conditionnelle." Thesis, Université Laval, 2006. http://www.theses.ulaval.ca/2006/24020/24020.pdf.

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32

Irvine, Alan David. "Mutation analysis in human keratin diseases." Thesis, Queen's University Belfast, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.268237.

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33

Wrighton, Katharine Helen. "TP53 mutation and cell cycle regulation." Thesis, King's College London (University of London), 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.405794.

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34

Wu, F. "Mutation-based genetic improvement of software." Thesis, University College London (University of London), 2017. http://discovery.ucl.ac.uk/1561361/.

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Abstract (sommario):

Genetic Improvement (GI) of software is a recent field that has drawn much attention from Software Engineering researchers. It aims to use search techniques to automatically modify and improve existing software. The drawback in previous GI approaches is scalability of these approaches, due to the large search space formed by the code base in real-world systems. To overcome the scalability challenge, more recent studies have confined the granularity of code modification at the statement level and applied a prior sensitivity analysis to further reduce the search space. However, some software imp

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35

Abu, Hashish Nabil. "Mutation analysis of dynamically typed programs." Thesis, University of Hull, 2013. http://hydra.hull.ac.uk/resources/hull:8444.

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Abstract (sommario):

The increasing use of dynamically typed programming languages brings a new challenge to software testing. In these languages, types are not checked at compile-time. Type errors must be found by testing and in general, programs written in these languages require additional testing compared to statically typed languages. Mutation analysis (or mutation testing) has been shown to be effective in testing statically (or strongly) typed programs. In statically typed programs, the type information is essential to ensure only type-correct mutants are generated. Mutation analysis has not so far been ful

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36

Gibbs, Mark. "Mutation at a hypervariable mouse minisatellite." Thesis, University of Leicester, 1992. http://hdl.handle.net/2381/34413.

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'Minisatellites' are a class of tandemly repeated sequences ubiquitous to eukaryotic genomes. A subset of minisatellites have been found to be highly variable in tandem repeat copy number. This variability makes such loci highly informative markers for genetic mapping, establishing family relationships in humans and other animals, and individual identification from forensic samples. One highly unstable mouse minisatellite locus, Ms6- hm, has been previously identified in mouse DNA fingerprints by crosshybridization with the human minisatellite probe 33.6. Ms6-hm showed a high germline mutation

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37

Sandrock, Kirstin, Ralf Knöfler, Andreas Greinacher, et al. "Novel Mutation in Bernard-Soulier Syndrome." Karger, 2010. https://tud.qucosa.de/id/qucosa%3A27717.

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Abstract (sommario):

Background: Bernard-Soulier syndrome (BSS) is a severe congenital bleeding disorder characterized by thrombocytopenia, thrombocytopathy and decreased platelet adhesion. BSS results from genetic alterations of the glycoprotein (GP) Ib/IX/V complex. Methods: We report on a patient demonstrating typical BSS phenotype (thrombocytopenia with giant platelets, bleeding symptoms). However, BSS was not diagnosed until he reached the age of 39 years. Results: Flow cytometry of the patient’s platelets revealed absence of GPIb/IX/V receptor surface expression. In addition, immunofluorescence analysis of p

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38

Xia, Xiaoning. "La mutation du système financier chinois." Paris 9, 1989. https://portail.bu.dauphine.fr/fileviewer/index.php?doc=1989PA090010.

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Le système financier chinois a connu une mutation profonde depuis le début de la réforme en 1979. Elle s'est caractérisée par le développement rapide de la monétisation de l'économie, la montée des banques dans le système financier et la création des marchés financiers et monétaires. L'introduction de l'économie du marché entraine un déclin du rôle du plan et par conséquent une perte d'influence du ministère des finances. Mais, à l'heure actuelle, le rôle des institutions financières et des banques dans l'orientation des ressources est encore faible en raison de leur faible participation aux i

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39

Weil-Sierpinski, Batyah. "L'intervention d'humanité : un concept en mutation." Montpellier 1, 1995. http://www.theses.fr/1995MON10062.

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L'intervention d'humanite est un concept qui s'est developpe au cours du 19eme siecle. Ce concept a ete concu differemment selon qu'il etait envisage par les etats ou par des autuers de droit international. Il s'est maintenu en droit international contemporain tout en se modifiant quant a son contenu et a ses modalites, la presentation etatique et doctrinale se rapprochant. Il a notamment ete envisage en liaison avec la protection des nationaux a l'etranger pratiquee avec la force armee. Le concept "intervention d'humanite" a ete reactive par l'emergence recente d'une forme d'assistance humani

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40

Tabariès, Sébastien. "Gène Hoxa5 : régulation et mutation conditionnelle." Doctoral thesis, Université Laval, 2006. http://hdl.handle.net/20.500.11794/18482.

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41

Dinda, Stephen B. "Predicting RNA Mutation Using 3D Structure." Bowling Green State University / OhioLINK, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=bgsu1321280932.

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42

Brihn, Lesil E. "POSITIONAL CLONING OF THE DISORGANIZATION MUTATION." Case Western Reserve University School of Graduate Studies / OhioLINK, 2008. http://rave.ohiolink.edu/etdc/view?acc_num=case1189146887.

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43

Zhong, Qi. "Hyperphosphorylation and Mutation Enhance Tau Aggregation." The Ohio State University, 2008. http://rave.ohiolink.edu/etdc/view?acc_num=osu1228235966.

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44

Fischer, Jared Michael. "Mouse Models of Mutation in vivo." University of Cincinnati / OhioLINK, 2008. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1227214862.

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45

Verlhac, Jérôme. "La mutation européenne du droit associatif." Limoges, 2011. http://www.theses.fr/2011LIMO1002.

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Le droit associatif est au carrefour des grandes libertés. Il est exercé sans l'épuiser dans le droit de s'associer. Son omniprécense traduit un moyen adapté, parfois le seul, de contourner l'inadéquation d'échelle entre les capacités de l'individu et les exigences nouvelles de son environnment. Cette observation du renfort opportun du droit assocaitif révèle une mutation à double détente. D'une part, le glissement du cadre national à l'espace européen entraîne un changement de références juridiques, d'internes elles deviennent communes. D'autre part, l'exercice du droit associatif participe à

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46

Urteaga, Eguzki. "Les journalistes locaux : mutation d'une profession." Bordeaux 2, 2000. http://www.theses.fr/2000BOR21819.

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47

Aston, Elizabeth Jane. "Critical mutation rates in small populations." Thesis, Keele University, 2014. http://eprints.keele.ac.uk/1321/.

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Mutation introduces change at the sequence level. There is a critical mutation rate above which changes occur too frequently for natural selection to maintain the population's genetic makeup. This thesis examines the relationship between this critical mutation rate and the number of individuals in the adapting population. It presents an algorithmic method capable of providing widely applicable results in haploid and diploid populations, and varies this method against analytical models for the error threshold. Use of the method led to the discovery of an exponential relationship between the cri

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48

Wright, Christopher. "Mutation analysis of relational database schemas." Thesis, University of Sheffield, 2015. http://etheses.whiterose.ac.uk/12059/.

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The schema is the key artefact used to describe the structure of a relational database, specifying how data will be stored and the integrity constraints used to ensure it is valid. It is therefore surprising that to date little work has addressed the problem of schema testing, which aims to identify mistakes in the schema early in software development. Failure to do so may lead to critical faults, which may cause data loss or degradation of data quality, remaining undetected until later when they will prove much more costly to fix. This thesis explores how mutation analysis – a technique commo

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49

Thomas, E. M. "Aspects of gender mutation in Welsh." Thesis, Bangor University, 2001. https://research.bangor.ac.uk/portal/en/theses/aspects-of-gender-mutation-in-welsh(9c4dcb8d-59fa-46be-9048-c9626a09b146).html.

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Research on the acquisition of grammatical gender has shown that for many languages, children gain an early command of gender. However, often in these languages gender marking is quite overt and provides a clear one-to-one correspondence between a marker and the gender encoded. In Welsh, gender marking is more complex. Gender is marked by mutations, a set of morphophonological changes that affect the initial consonants of words, and the mapping between mutation and gender is quite opaque. Two mutation types are used in part to mark feminine gender: both feminine nouns modified by the definite

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50

Firth, James Dawrant. "A study of a dominant suppressor of the purple eye-color mutant in Drosophila melanogaster." Thesis, University of British Columbia, 1985. http://hdl.handle.net/2429/24663.

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Abstract (sommario):

The subject of this study is a new dominant suppressor mutation Su(pr) which acts on the purple eye-colour mutant (pr) of Drosophila a melanogaster. The Induction of Su (pr) was originally associated with the synthesis of a compound-2R chromosome In SD72/cn bw females. The suppression of p_ was first observed in combination with a homologous pr bearing compound-2L chromosome. Suppressed-pr flies appeared to have a fully wild eye phenotype. The intention of this study was to determine the chromosomal constitution necessary for Su(pr) induction, and to map the suppressor site. To do this, many c

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