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Dissertations / Theses on the topic 'Les Mutations'

Author: Grafiati

Published: 14 December 2024

Last updated: 31 July 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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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

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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4

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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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

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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6

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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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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7

COCCIADIFERRO, DARIO. "Mutational analysis of Kabuki Syndrome patients and functional dissection of KMT2D mutations." Doctoral thesis, Università di Foggia, 2018. http://hdl.handle.net/11369/369451.

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The discovery of histone methyltransferase KMT2D and demethylase KDM6A genetic alterations in Kabuki Syndrome (KS) expanded and highlighted the role of histone modifiers in causing congenital anomalies and intellectual disability syndromes. KS is a rare autosomal dominant condition characterized by facial features, various organ malformations, postnatal growth deficiency, and intellectual disability. Since 2011 we performed a mutational screening of our KS cohort, that includes now 505 KS patients, by Sanger sequencing and MLPA of KMT2D, followed by KDM6A analysis in those patients resulted as

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8

Davis, Brad. "Compensatory and deleterious mutations." Thesis, University of British Columbia, 2009. http://hdl.handle.net/2429/7722.

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My Ph.D. research has focused on some general properties of compensatory mutations, as well as the impact of compensatory mutations on fitness recovery and deleterious mutations on populations extinction risks. I have addressed these topics using a variety of techniques. Chapter 2 addresses mutational meltdown using computer simulation models to explicitly incorporate both environmental stochasticity and mutation accumulation. The results show that a small amount of environmental stochasticity can significantly hasten extinction times and that the mutational meltdown process hastens time to e

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9

Bendall, Kate E. "Inheritance of mitochondrial mutations." Thesis, University of Oxford, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.320141.

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10

Salamat, Majid. "Coalescent, recombinaisons et mutations." Thesis, Aix-Marseille 1, 2011. http://www.theses.fr/2011AIX10059.

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Cette thèse se concentre sur certains sujets en génétique des populations. Dans la première partie, nous donnons des formules y compris l'espérance et la variance de la hauteur et celles de la longueur du graphe de recombinaison ancestral (ARG) et l'espérance et la variance du nombre de recombinaison et nous montrons que l'espérance de la longueur de l'ARG est une combinaison linéaire de l'espérance de la longueur de la coalescence de Kingman et l'espérance de la hauteur de l'ARG. En outre, nous avons obtenu une relation entre l'espérance la longueur de l'ARG et l'espérance du nombre de recomb

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11

Ižák, Tomáš. "Detection of Correlated Mutations." Master's thesis, Vysoké učení technické v Brně. Fakulta informačních technologií, 2013. http://www.nusl.cz/ntk/nusl-236417.

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Tato práce zkoumá existující možnosti a metody detekce korelovaných mutací v proteinech. Práce začíná teoretickým úvodem do zkoumané problematiky. Využití informací o korelovaných mutacích je především při predikci terciální struktury proteinu či hledání oblastí s významnou funkcí. Dále následuje přehled v současnosti používaných metod detekce a jejich výhody a nevýhody. V této práci jsou zkoumány zejména metody založené na statistice (například Pearsonově korelačním koeficientu nebo Pearsonově chi^2 testu), informační teorii (Mutual information - MI) a pravděpodobnosti (ELSC nebo Spidermonkey

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12

Champeimont, Raphael. "Combinatoire des mutations génétiques." Thesis, Paris 6, 2014. http://www.theses.fr/2014PA066636/document.

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Dans une première partie, je présente le travail que j’ai accompli sur la coévolution moléculaire. Je présente le contexte biologique et les différentes mesures qui permettent de détecter la conservation et la coévolution à l’échelle des acides aminés. Ensuite, je montre une application de ces mesures à la détection des résidus critiques dans la protéine P53 liée au cancer. Dans ce but, j’ai créé une évaluation des différentes méthodes de prédiction. J’utilise ensuite la même méthodologie sur une base de données de mutations liées à des maladies génétiques. Je montre également comment la coévo

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13

Champeimont, Raphael. "Combinatoire des mutations génétiques." Electronic Thesis or Diss., Paris 6, 2014. http://www.theses.fr/2014PA066636.

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Dans une première partie, je présente le travail que j’ai accompli sur la coévolution moléculaire. Je présente le contexte biologique et les différentes mesures qui permettent de détecter la conservation et la coévolution à l’échelle des acides aminés. Ensuite, je montre une application de ces mesures à la détection des résidus critiques dans la protéine P53 liée au cancer. Dans ce but, j’ai créé une évaluation des différentes méthodes de prédiction. J’utilise ensuite la même méthodologie sur une base de données de mutations liées à des maladies génétiques. Je montre également comment la coévo

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14

Magnússon, Kristinn P. "p53 inactivation by point mutations and splice mutations in human and mouse tumors /." Stockholm, 1998. http://diss.kib.ki.se/search/diss.se.cfm?19980611magn.

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15

Yauk, Carole Lyn. "Germline minisatellite mutations in herring gulls, induced mutations at colonies situated near steel mills." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp03/NQ51024.pdf.

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16

Yauk, Carole Lyn. "Germline minisatellite mutations in herring gulls : induced mutations at colonies situated near steel mills /." *McMaster only, 1998.

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17

Loukas, Andrew. "Sodium channel mutations causing epilepsy." Thesis, McGill University, 2003. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=80321.

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Ion channels mediate the electrical properties of neurons and other excitable cells. Mutations in ion channel genes have been linked to several neurological disorders. For example, a rare familial form of epilepsy, generalized epilepsy with febrile seizures plus (GEFS+), is associated with mutations in voltage gated sodium channels. We examined how two such mutations (C121W, D188V) alter the functional properties of the channel through voltage-clamp studies in Xenopus oocytes and HEK cells respectively. D188V is located in the alpha subunit and C121W in the auxiliary beta1 subunit of th

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18

McNeill, A. "Glucocerebrosidase mutations and Parkinson's disease." Thesis, University College London (University of London), 2013. http://discovery.ucl.ac.uk/1387497/.

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Objectives - Gaucher disease (GD) is caused by bi-allelic mutations in the glucocerebrosidase gene (GBA). GD and heterozygous carriage of GBA mutations significantly increase the risk of developing Parkinson's disease (PD). Here we studied GD patients and carriers to identify a cohort of individuals with clinical signs of prodromal PD and generated fibroblast lines from them to study why GBA mutations cause PD. Methods - 83 patients with Type I GD and 41 of their heterozygous carrier relatives were recruited from lysosomal storage disorder clinics at the Royal Free Hospital and Addenbrooke's H

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19

Henriques, da Silva Darly. "Nouveaux matériaux et mutations industrielles." Paris 1, 1994. http://www.theses.fr/1994PA010077.

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Les nouveaux materiaux constituent un domaine tres complexe recouvrent des aspects sociaux, economiques et politiques de la societe. Dans notre etude, nous avons privilegie les aspects technico-economiques, sans pour autant negliger le cote social, en mettant en evidence le role des nouveaux materiaux sur les mutations en cours dans le systeme industriel, mouvement propre aux pays developpes. Ce mouvement de restructuration vise aussi bien la mise en valeur des nouvelles technologies, en particulier les applications des nouveaux materiaux, qu'une adaptation aux nouvelles regles d'organisation

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20

Lepez, Justine, and Justine Lepez. "Les mutations du droit moral." Master's thesis, Université Laval, 2020. http://hdl.handle.net/20.500.11794/38198.

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Notre mémoire de maîtrise porte sur les mutations du droit moral en France. Traditionnellement, le droit moral est prédominant sur les droits patrimoniaux, en raison de la conception personnaliste qui irrigue le droit d’auteur français et en fait sa singularité. Cette prééminence engendre classiquement une stabilité et une position suffisamment forte pour résister au vent consumériste qui souffle sur le paysage juridique international occidental. Néanmoins, en raison de la dilution de la notion d’auteur, de la tendance à la collectivisation et donc l’émergence d’une multiplicité d’œuvres, de n

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21

Leonardi, Emanuela. "Bioinformatic Analysis of Protein Mutations." Doctoral thesis, Università degli studi di Padova, 2012. http://hdl.handle.net/11577/3426280.

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Many gene defects have been associated to genetic disorders, but the details of molecular mechanisms by which they contribute to the disease are often unclear. The study of mutation effects at the protein level can help elucidate the biological processes involved in the disease and the role of the protein in it. Bioinformatics can help to address this problem, being the connection between different disciplines including clinical, genetics, structural biology, and biochemistry. By using a computational approach I tackled the analysis of some examples of biomedical interesting proteins integrati

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22

Tsui, Wai-yan. "Determination of PTEN mutations in prostate cancer in Chinese." Hong Kong : University of Hong Kong, 2001. http://sunzi.lib.hku.hk/hkuto/record.jsp?B23736173.

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23

Tsao, Chihyi. "The Effects of Mitochondrial DNA Mutations on Cell Growth." Thesis, University of Canterbury. Biological Sciences, 2005. http://hdl.handle.net/10092/1523.

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Mitochondrial DNA encodes thirteen protein subunits in the oxidative phosphorylation system (OXPHOS) that is responsible for cellular energy production. Mitochondrial disorders have been identified to be associated with mtDNA mutations. However, the molecular mechanisms of specific mtDNA mutations are still being explored in order to establish causative links. This study tries to elucidate the mutational effects of mtDNA on OXPHOS complex activities and cell growths. Using mouse 3T3 fibroblasts as a cell model, single-cell clones with different growth rates were isolated. The entire mtDNA geno

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24

Raymond, Kyle A. "APOBEC3, cytidine deaminases at the crossroads of cellular stress, viral editing and tumorigenesis." Electronic Thesis or Diss., Sorbonne université, 2024. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2024SORUS287.pdf.

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La famille de protéines APOBEC3 englobe une variété de fonctions importantes pour la santé humaine. Ces protéines ont la capacité intrinsèque de se lier et de modifier l'ADN simple brin grâce à un processus appelé la désamination de la cytidine. Les enzymes APOBEC3 jouent un rôle important dans le déclenchement de la réponse immunitaire innée. Elles sont par exemple, capables d'hyperéditer les génomes viraux et de restreindre leur réplication. Leur activité crée une mutation de la cytidine en thymine. La perturbation du mécanisme de régulation cellulaire qui contrôle l'activité nucléaire des p

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25

Hirashima, Takako. "Choroidal Vasculature in Bietti Crystalline Dystrophy With CYP4V2 Mutations and in Retinitis Pigmentosa With EYS Mutations." Kyoto University, 2020. http://hdl.handle.net/2433/253205.

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26

Azad, Priti. "The Role of New Mutations in Evolution and Cloning: Genetic Analysis to Identify the Role of New Beneficial Mutations in Increasing Viability and Salt Tolerance in Drosophila Melanogaster and the Influence of Deleterious Mutations on Cloning Efficiency." Connect to this title online, 2006. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=bgsu1159903219.

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27

Nagao, Kentaro. "Mutations and noncommutative Donaldson-Thomas theory." 名古屋大学多元数理科学研究科, 2009. http://hdl.handle.net/2237/12261.

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28

Kamanu, Frederick Kinyua. "Computational Verification of Published Human Mutations." Thesis, University of the Western Cape, 2008. http://etd.uwc.ac.za/index.php?module=etd&action=viewtitle&id=gen8Srv25Nme4_2906_1269551415.

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<p>The completion of the Human Genome Project, a remarkable feat by any measure, has provided over three billion bases of reference nucleotides for comparative studies. The next, and perhaps more challenging step is to analyse sequence variation and relate this information to important phenotypes. Most human sequence variations are characterized by structural complexity and, are hence, associated with abnormal functional dynamics. This thesis covers the assembly of a computational platform for verifying these variations, based on accurate, published, experimental data.</p>

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29

Swalwell, Helen. "Mitochondrial DNA Mutations in Human Disease." Thesis, University of Newcastle upon Tyne, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.485565.

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Pathogenic mutations in mitochondrial DNA (mtDNA) are recognised as an important cause of disease, and in many cases lead to well-characterised clinical syndromes. However in many cases the clinical phenotypes associated with mutations in mtDNA are highly variable and the genotype-phenotype correlation is not straightforward. The pathogenesis of mtDNA mutations in many cases remains poorly understood and as such, studies aimed at understanding the expression of mtDNA disease Will benefit genetic counselling, lead to more accurate estimations of mtDNA disease prevalence in popul~tions and hopef

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30

Jivraj, Shehnaaz. "Genetic thrombophilic mutations and recurrent miscarriage." Thesis, Imperial College London, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.486914.

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Recurrent miscarriage (RM) affects 1% of the population. Some cases have a thrombotic aetiology. While it is known that the allele frequency of factor V Leiden (FVL), a thrombophilic gene mutation, is similar between women with and without RM, the miscarriage rate of a subsequent untreated pregnancy is significantly higher in RM women carrying FVL. The studies in the thesis explore the hypothesis that (a) women with FVL and RM, who went on to miscarry again may have an additional thrombophilia that increased their risk of miscarriage (b) thrombophilia genotype inherited by the fetus may determ

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31

Kugelberg, Elisabeth. "Mechanisms of adaptive mutations in bacteria /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-446-5/.

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32

Vestling, Monika. "Alzheimer's disease mutations and cellular signalling /." Stockholm, 2001. http://diss.kib.ki.se/2001/91-628-4993-X.

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33

Bahubeshi, Mohamed-Amin. "Germline DICER1 mutations in human disease." Thesis, McGill University, 2011. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=104870.

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The DICER1 gene, which codes for a protein of the same name, is vital to the production of microRNA. As small ~20nt fragments of RNA, microRNAs alter gene expression post-transcriptionally by directly binding to mRNA and affecting translation. Current estimates suggest that expression of 30-70% of all protein-coding genes is modified by microRNA activity.Germline DICER1 mutations have recently been associated with cases of pleuropulmonary blastoma, a childhood lung tumor. We have discovered germline DICER1 mutations to be associated with other diseases by identifying mutations in nearly 60 ind

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34

Krook, Anna Christina. "Insulin receptor mutations in human disease." Thesis, University of Cambridge, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.266558.

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35

McGettrick, Aileen Jane. "Molecular consequences of mutations in FBNI." Thesis, University of Oxford, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.249501.

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36

Sharma, Oliver. "Detecting worm mutations using machine learning." Thesis, University of Glasgow, 2008. http://theses.gla.ac.uk/469/.

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Worms are malicious programs that spread over the Internet without human intervention. Since worms generally spread faster than humans can respond, the only viable defence is to automate their detection. Network intrusion detection systems typically detect worms by examining packet or flow logs for known signatures. Not only does this approach mean that new worms cannot be detected until the corresponding signatures are created, but that mutations of known worms will remain undetected because each mutation will usually have a different signature. The intuitive and seemingly most effective solu

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37

Emuss, Victoria Louise. "C-RAF Mutations in human cancer." Thesis, Institute of Cancer Research (University Of London), 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.511164.

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38

Ali, Muhammad Akhtar. "Understanding Cancer Mutations by Genome Editing." Doctoral thesis, Uppsala universitet, Genomik, 2014. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-235680.

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Mutational analyses of cancer genomes have identified novel candidate cancer genes with hitherto unknown function in cancer. To enable phenotyping of mutations in such genes, we have developed a scalable technology for gene knock-in and knock-out in human somatic cells based on recombination-mediated construct generation and a computational tool to design gene targeting constructs. Using this technology, we have generated somatic cell knock-outs of the putative cancer genes ZBED6 and DIP2C in human colorectal cancer cells. In ZBED6-/- cells complete loss of functional ZBED6 was validated and l

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Ng, Pei-Suin. "Mutations of pastness : time, cinema, ontology." Thesis, University College London (University of London), 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.526854.

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The thesis investigates how recent digital technologies of cinema-digital video, CGI, virtual cinematography and motion capture-reconfigure the nature (and, in turn, temporalities) of the moving image. Its objectives are to rework the ontology of the image, revisit the meaning of time in relation to the image and re-evaluate the significance of cinema for ourselves and our consciousness of time. The thesis revolves around the central premise of the photographic image's (Peircian) indexicality-the imprint of light on film/celluloidwhereby the referent "adheres" to the photograph through existen

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40

Luo, Da. "Transposon-induced mutations in Antirrhinum majus." Thesis, University of East Anglia, 1990. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.280022.

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41

Elliott, Hannah. "Epidemiology of mitochondrial DNA point mutations." Thesis, University of Newcastle Upon Tyne, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.442343.

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42

Lopes, Carlos. "Les Kaabunke : structures politiques et mutations." Paris 1, 1988. http://www.theses.fr/1988PA010657.

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Cette these essaye de presenter l'evolution politique et economique d'un etat malinke du soudan occidental, entre le xiiie et le xixe siecles: le kaabu et son systeme de mansaya. La creation du kaabu est liee a l'expansion de l'empire du mali de sunjata keita et il semble que c'est un de ses hommes de guerre - tiramakan traore - qui a ete le fondateur de l'etat du kaabu (kaabunke) dans les plaines de la haute cote de guinee. L'arrivee - particulierement des portugais, aux "rivieres du sud" (xve siecle) provoquera la naissance de nouvels axes commerciaux qui seront a la base d'un developpement

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43

Faucompré, Éric. "Permanence et mutations du secret médical." Paris 8, 2012. http://octaviana.fr/document/18199061X#?c=0&m=0&s=0&cv=0.

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Sous des apparences de simplicité, le secret médical professionnel est malaisé à cerner, les textes se révélant parfois incertains, la jurisprudence souvent contradictoire et les commentateurs généralement divisés. La loi du 4 mars 2002 en annonçant une évolution majeure du secret médical, déplace le devoir au silence du médecin sanctionné par le Code pénal vers un droit du patient garanti par le Code de la santé publique. Ce droit, rendu au malade, peut être aussi celui du tiers ; si le secret est unique quant à son objet, l’état de santé du patient, il est dual quant à ses sujets, le patient

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44

Roques, Michel. "Mutations récentes dans l'espace péricentral bordelais." Bordeaux 3, 1987. http://www.theses.fr/1987BOR30049.

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La premiere couronne de banlieues de bordeaux a l'ouest et au sud (begles, talence, st. Augustin, cauderan, le bouscat) se presente plus comme un espace urbain peri-central que comme un ensemble de communes et de quartiers tres differents de la ville centre elle meme. Comme l'espace pericentral "intra muros" de bordeaux ces vieilles banlieues subissent vieillissement et depopulation. Ces phenomenes peuvent particulierement etre mesures a l'echelle de l'ilot de maisons et se manifestent par la decroissance rapide de la population scolaire. Ce vieillissement est plus sensible que dans d'autres b

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45

Gérardin, Frédéric. "Transférabilité des qualifications et mutations productives." Paris 1, 1997. http://www.theses.fr/1997PA010022.

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Cette thèse d'économie et de sociologie du travail développe une problématique alternative de la transférabilité des qualifications des salariés qui propose d'y voir un processus social permanente de reproduction à l'élargi de modalités tout à la fois de formation professionnelle de la main-d'oeuvre, d'application productive individuelle et collective par les salariés de leurs savoirs professionnels et de reconnaissance de qualités professionnelles aux individus. Elle remet la question de la dynamique sociale de qualifications inaliénablement collectives et individuelles des salariés en mode d

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Merrad, Benyamina Badra. "Déplacements et mutations spatiales à Alger." Thesis, Bourgogne Franche-Comté, 2019. http://www.theses.fr/2019UBFCH017.

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Alger, ville et port doit son histoire exceptionnelle à son site remarquable sur un éperon rocheux. Mais, cette morphologie s’est révélée contraignante d’une ville pour la croissance urbaine d’une ville qui prétend aujourd’hui rejoindre le rang de métropole. Au cours de son histoire, les relations entre le port et la ville ont pris de formes multiples souvent compatibles parfois opposées voire contradictoires, inversant les relations de domination. Alger, capitale d’un pays de 40 millions d’habitants a toujours été un laboratoire des politiques urbaines de la période coloniale aux différentes

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Young, Emma. "Recurrent Genetic Mutations in Lymphoid Malignancies." Doctoral thesis, Uppsala universitet, Experimentell och klinisk onkologi, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-314956.

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In recent years, the genetic landscape of B-cell derived lymphoid malignancies, including chronic lymphocytic leukemia (CLL), has been rapidly unraveled, identifying recurrent genetic mutations with potential clinical impact. Interestingly, ~30% of all CLL patients can be assigned to more homogeneous subsets based on the expression of a similar or “stereotyped” B-cell receptor (BcR). Considering that biased distribution of genetic mutations was recently indicated in specific stereotyped subsets, in paper I, we screened 565 subset cases, preferentially assigned to clinically aggressive subsets,

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Simpson, Andreja. "Fibulin-4 mutations in cutis laxa." Thesis, University of Manchester, 2013. https://www.research.manchester.ac.uk/portal/en/theses/fibulin4-mutations-in-cutis-laxa(fcf5936a-e6a4-42a0-b58a-a16876b0f01f).html.

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Fibulin-4 is an extracellular matrix protein which plays an essential function in the assembly of elastic fibres, and may be involved in the modulation of TGFβ bioavailability and smooth muscle cell differentiation. Mutations in fibulin-4 can cause autosomal recessive cutis laxa, a frequently lethal connective tissue disorder. Although patient studies have provided some insights into the pathological mechanisms of this disease, a detailed analysis of the consequences of fibulin-4 mutations on a molecular and cellular level was required.The findings presented in this thesis demonstrate that cut

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Roques, Michel. "Mutations récentes dans l'espace péricentral bordelais." Lille 3 : ANRT, 1988. http://catalogue.bnf.fr/ark:/12148/cb37609469m.

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Bokhari, Yahya. "DISCOVERING DRIVER MUTATIONS IN BIOLOGICAL DATA." VCU Scholars Compass, 2018. https://scholarscompass.vcu.edu/etd/5637.

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Background Somatic mutations accumulate in human cells throughout life. Some may have no adverse consequences, but some of them may lead to cancer. A cancer genome is typically unstable, and thus more mutations can accumulate in the DNA of cancer cells. An ongoing problem is to figure out which mutations are drivers - play a role in oncogenesis, and which are passengers - do not play a role. One way of addressing this question is through inspection of somatic mutations in DNA of cancer samples from a cohort of patients and detection of patterns that differentiate driver from passenger mutation

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