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1

Hosseini, Mona. "Genome-wide DNaseI hypersensitive sites profiles in laboratory mouse strains by DNase-seq." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:c76109fc-93b5-4e0b-b7df-0277cbf527a9.

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Variation at regulatory elements, identified through hypersensitivity to digestion by Deoxyribonuclease I (DNase I), is believed to contribute to variation in complex traits, but the extent and consequences of this variation are poorly characterized. To investigate the relationship between sequence variation, and the functional consequences of variation in chromatin accessibility, genome-wide DNase I hypersensitive sites (DHS) of terminally differentiated erythroblasts were studied in eight inbred strains of mice studied (A/J, AKR/J, BALBc/J, C3H/HeJ, C57BL/6J, CBA/J, DBA/2J, and LP/J). These
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Focareta, Tony. "The extracellular DNase(s) of vibrio cholerae /." Title page, abstract and table of contents only, 1989. http://web4.library.adelaide.edu.au/theses/09PH/09phf652.pdf.

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3

Nascimento, Juliana Minardi. "Caracterização da DNase da peçonha da serpente Bothrops alternatus : comparação com a DNase acida de mamiferos envolvida em apoptose." [s.n.], 2008. http://repositorio.unicamp.br/jspui/handle/REPOSIP/314698.

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Orientadores: Stephen Hyslop, Carla Beatriz Collares-Buzato<br>Tese (doutorado) - Universidade Estadual de Campinas, Instituto de Biologia<br>Made available in DSpace on 2018-08-10T23:21:13Z (GMT). No. of bitstreams: 1 Nascimento_JulianaMinardi_D.pdf: 8097756 bytes, checksum: 5350a8b542e9015bd5486f4418b36285 (MD5) Previous issue date: 2008<br>Resumo: As peçonhas de serpentes Bothrops são responsáveis por diversos danos locais (na região da mordida) e sistêmicos durante o envenenamento. Dentre as manifestações sistêmicas, a insuficiência renal aguda e um dos mais importantes efeitos tóxicos c
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4

Mejia, Lara Adrian Alberto. "Generation and isolation of recombinant DNase II enzyme." To access this resource online via ProQuest Dissertations and Theses @ UTEP, 2007. http://0-proquest.umi.com.lib.utep.edu/login?COPT=REJTPTU0YmImSU5UPTAmVkVSPTI=&clientId=2515.

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5

Pommer, Ansgar J. "Mechanistic studies on the DNase domain of colicin E9." Thesis, University of East Anglia, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.361425.

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6

Hashimoto, Tatsunori B. (Tatsunori Benjamin). "Computation identification of transcription factor binding using DNase-seq." Thesis, Massachusetts Institute of Technology, 2014. http://hdl.handle.net/1721.1/87945.

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Thesis: S.M., Massachusetts Institute of Technology, Department of Electrical Engineering and Computer Science, 2014.<br>Cataloged from PDF version of thesis.<br>Includes bibliographical references (pages 41-43).<br>Here we describe Protein Interaction Quantitation (PIQ), a computational method that models the magnitude and shape of genome-wide DNase profiles to facilitate the identification of transcription factor (TF) binding sites. Through the use of machine learning techniques, PIQ identified binding sites for >700 TFs from one DNase-seq experiment with accuracy comparable to ChIP-seq for
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7

Foerster, Amei Barbara. "Die DNase X als prädiktiver Marker in malignen gynäkologischen Tumoren? /." Freiburg i.Br, 2008. http://opac.nebis.ch/cgi-bin/showAbstract.pl?sys=000256414.

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8

Nuthall, Hugh. "Analysis of DNase I hypersensitive sites in the CFTR gene." Thesis, University of Oxford, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.298724.

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9

Li, Wei. "Protein-protein interaction specificity of immunity proteins for DNase colicins." Thesis, University of East Anglia, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.302033.

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10

Shah, Pallav Lalji. "Recombinant human DNase I in the treatment of cystic fibrosis." Thesis, King's College London (University of London), 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.297271.

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11

Doherty, Aidan Joseph. "Studies on the sequence-selective nuclease, bovine pancreatic DNase I." Thesis, University of Southampton, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.359221.

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12

Altairac, Séverine. "Régulation de l'activation de la L-DNase II dans l'apoptose." Paris 11, 2002. http://www.theses.fr/2002PA112115.

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La L-DNase II est une endonucléase impliquée dans les processus de l'apoptose, capable de générer des oligonucléosomes. Elle a un précurseur, la LEI (Leukocyte Elastase Inhibitor). La LEI est une serpine (serine protease inhibitor) et inhibe des protéases à serine : l'élastase et la cathepsine G. La L-DNase II dérive de la LEI suite à une modification post-traductionnelle, accompagnée d'un changement de conformation. Les deux activités, inhibiteur de protéases et endonucléase, sont mutuellement exclusives. La conversion de la LEI en L-DNase II peut être obtenue in vitro par traitement avec l'é
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13

Dick, Julia [Verfasser]. "Die genetische Grundlage der DNase-Produktion von Streptococcus agalactiae / Julia Dick." Ulm : Universität Ulm, 2019. http://d-nb.info/1192373375/34.

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14

Jones, Stephen Jeffrey. "Studies on the active site mutants of bovine panreatic DNase 1." Thesis, University of Newcastle Upon Tyne, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.238823.

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15

Kutscher, Daniel [Verfasser]. "Mechanismus der Inhibition und Aktivierung der Caspase-aktivierten DNase / Daniel Kutscher." Gießen : Universitätsbibliothek, 2011. http://d-nb.info/1062973097/34.

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16

Padrón-Barthe, Laura. "LEI/L-DNase II : mécanisme d'activation et régulation de la mort cellulaire." Paris 5, 2006. http://www.theses.fr/2006PA05D044.

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La mort cellulaire est un processus indispensable à l'homéostasie des organismes. Les premières protéases impliquées dans l'apoptose furent les caspases. Cependant, leur participation n'est plus considérée comme une étape obligatoire, plusieurs effecteurs indépendants de l'activation des caspases ayant été mis en évidence. Un de ces effecteurs, caractérisé dans notre laboratoire, est la LEI/L-DNase II. Cette protéine appartient à la famille des serpines. Nous avons montré que la LEI (antiprotéase) change de conformation en découvrant un site endonucléase, la transformant ainsi en L-DNase II (e
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17

MacLellan, Shawn Roderick. "Purification and characterization of DNase A, the major endonuclease of Fibrobacter succinogenes S85." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape7/PQDD_0001/MQ43183.pdf.

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18

Shipstone, Emma Jane. "DNase I : wild type and mutants studied with a novel fluorescence based assay." Thesis, University of Newcastle Upon Tyne, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.242441.

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19

Zangelmi, Léo. "étude structurale et fonctionnelle de la protéine a1 du bactériophage t5 : une dnase octamérique originale." Thesis, Université Paris-Saclay (ComUE), 2018. http://www.theses.fr/2018SACLS505.

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Les bactériophages neutralisent les systèmes de défense et détournent les fonctions vitales de leur hôte pour favoriser leur multiplication. Les gènes de phages qui gouvernent cette prise de contrôle de l’hôte restent mal connus, pourtant leur caractérisation présente un intérêt majeur pour mettre à jour des fonctions bactériennes spécifiquement ciblées par les phages et pour concevoir de nouveaux agents antibactériens.Le phage T5 injecte son ADN dans la bactérie Escherichia coli en deux étapes. Seuls les gènes précoces codés par 8% du génome entrent dans la cellule et le transfert s’arrête. L
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20

Napirei, Markus. "Untersuchungen zur physiologischen Funktion der Desoxyribonuklease I (DNase-I-Gen-Targeting bei der Maus)." [S.l. : s.n.], 2000. http://deposit.ddb.de/cgi-bin/dokserv?idn=959689311.

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21

Weston, Simon Alan. "An X-ray crystallographic analysis of the DNase I - d(GGTATACC)←2 complex." Thesis, University of Portsmouth, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.306127.

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22

Piper, Jason. "The demarcation of transcription factor binding sites through the analysis of DNase-seq data." Thesis, University of Warwick, 2014. http://wrap.warwick.ac.uk/71314/.

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The expression of eukaryotic genes is controlled by non-coding regulatory elements such as promoters and enhancers, which bind sequence-specific DNA-binding proteins (transcription factors). In multicellular organisms, the characterisation of these elements is required in order to understand how a single genome is utilised to generate a multitude of cell types, and how aberrant regulation of transcription contributes to disease processes. This involves the identification of transcription factor binding sites within regulatory elements that are occupied in a defined regulatory context. Digestio
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23

Evans, Steven John. "Structure, function and mechanism of action of bovine pancreatic deoxyribonuclease I : role of amino acid residues involved in phosphate contacts." Thesis, University of Newcastle Upon Tyne, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.321857.

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24

Keppler, Melanie Dawn. "Strategies for increasing the stability of triple helical DNA." Thesis, University of Southampton, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.302353.

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25

Thompson, John William. "DNA Fragmentation and Histone Hyperacetylation in the Hypoxic-Acidotic Cardiomyocyte." Scholarly Repository, 2008. http://scholarlyrepository.miami.edu/oa_dissertations/169.

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Bnip3 is a BH3-only member of the Bcl-2 family of apoptotic proteins. Our laboratory has previously shown that Bnip3 induces a unique pathway of cardiac myocyte cell death, characterized by mitochondrial dysfunction, cytochrome c release and DNA fragmentation. Bnip3 is induced by hypoxia and the death pathway is activated by concurrent acidosis. We have shown that hypoxia-acidosis creates an environment that is permissive to calpain but not caspase activation and is characterized by enhanced DNase(s) activity as evidenced by genomic DNA fragmentation. This dissertation describes the nuclear c
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26

Larsen, Brian D. "Role of Caspase 3/Caspase Activated DNase induced DNA Strand Breaks during Skeletal Muscle Differentiation." Thèse, Université d'Ottawa / University of Ottawa, 2012. http://hdl.handle.net/10393/20709.

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Cell fate decisions incorporate distinct and overlapping mechanisms. The activity of caspase 3 was initially understood to be a cell death restricted event, however numerous studies have implicated this enzyme in the regulation of both differentiation and proliferation. How the activity of caspase 3 promotes a non-death cell fate remains unclear. Here we examine the role caspase 3 activity plays during skeletal muscle differentiation; in particular we explore the hypothesis that the mechanism of inducing DNA strand breaks during cell death is also a key feature of differentiation, albeit with
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27

Baissa, Elham Salem. "Chemical and spectroscopic studies of lanthanide ions interacting with colicin E9 DNase and its immunity protein." Thesis, University of East Anglia, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.405301.

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28

Daniel-Leprêtre, Chloé. "Lei/l-dnase ii : aspects structuraux et intégration dans le réseau des voies de mort cellulaire." Paris 7, 2008. http://www.theses.fr/2008PA077027.

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Processus indispensable au développement puis à l'homéostasie des organismes, la mort cellulaire est dérégulée dans la plupart des pathologies, rendant son étude cruciale pour l'innovation thérapeutique. De nombreux effecteurs interviennent dans différentes voies moléculaires pour exécuter la mort d'une cellule. L'un d'entre eux, la LEI/L-DNase II, a été caractérisé dans notre laboratoire. La LEI (Leukocyte Elastase Inhibitor) est une protéine cytosolique inhibitrice de protéases et appartient à la famille des serpines intracellulaires. Sous l'effet de certains stress inducteurs de mort cellul
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29

Huang, Weei-Yuarn. "Nucleosomal structure and functions, characterization of the hamster cardiac myosin heavy chain genes DNase I hypersensitive sites." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1997. http://www.collectionscanada.ca/obj/s4/f2/dsk2/tape16/PQDD_0018/NQ27662.pdf.

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30

Amaral, Marta Gonçalves. "Transferência gênica em células espermáticas de Mus musculus e Ramdia quelen." Universidade Federal de Pelotas, 2009. http://guaiaca.ufpel.edu.br/handle/123456789/1270.

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Made available in DSpace on 2014-08-20T13:32:54Z (GMT). No. of bitstreams: 1 tese_marta_amaral.pdf: 872749 bytes, checksum: 441aef851eaec2633ad2f7530bf3c07c (MD5) Previous issue date: 2009-12-28<br>Transgenic animals have been used as biological models in studies of the genes functions and their mechanisms of action, as well as to improve animal production. Researchers are trying to produce transgenic animals that will be organs donors in xenotransplants. Another use of the transgenic animal is in the production of recombinant proteins for pharmaceutical interest, starting from several tis
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Chan, Jonathan Ka Lok. "Association of DNAse hypersensitive chromatin domains with the nuclear envelope and with nuclear pore complexes in 3T3 fibroblasts." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp01/MQ46156.pdf.

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32

Eichner, Ruth. "Darstellung und funktionelle Charakterisierung von DNase I hypersensitiven Bereichen an der 5' Grenze des humanen Immunoglobulin λ Locus". Diss., Ludwig-Maximilians-Universität München, 2014. http://nbn-resolving.de/urn:nbn:de:bvb:19-169700.

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33

Whittaker, Sara Britt-Marie. "An investigation into the structure and dynamics of the DNase domain of colicin E9 by heteronuclear NMR spectroscopy." Thesis, University of East Anglia, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.266728.

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34

Abi, Ghanem Joséphine. "Contribution à l'étude de la flexibilité de l'ADN et à son rôle dans l'interaction non spécifique DNase I/ADN." Paris 6, 2009. http://www.theses.fr/2009PA066316.

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Dans cette thèse, nous avons d’abord mis au point la première méthode connue de raffinement RMN d’ADN-B à partir des déplacements chimiques du phosphore. Nous montrons que cette approche permet d’obtenir une description détaillée des propriétés d’oligomères d’ADN, à partir d’expériences de routine sur des molécules non marquées, en ayant l’avantage de réduire le temps expérimental d’acquisition des données classiquement utilisées dans les raffinements. Ayant raffiné deux oligomères d’ADN avec notre nouveau protocole, nous avons ensuite élucidé le rôle de leur flexibilité séquence dépendante da
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35

BELORGEY, DIDIER. "Influence de l'adn et de differents polynucleotides sur l'inhibition des serine-proteases leucocytaires humaines. Effet de la dnase recombinante." Université Louis Pasteur (Strasbourg) (1971-2008), 1996. http://www.theses.fr/1996STR13200.

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La mucoviscidose se caracterise, au niveau pulmonaire, par une accumulation de mucus purulent, une obstruction des voies aeriennes et une inflammation conduisant a une detresse respiratoire et finalement a la mort. Au cours de l'inflammation, les neutrophiles vont liberer differentes proteases. D'un autre cote, la quantite importante d'adn derivee de ces neutrophiles augmente la viscosite des secretions bronchiques. Le present travail vise a montrer le role de l'adn dans l'inhibition de l'elastase leucocytaire et des autres proteases contenues dans les granules azurophiles du neutrophile, la c
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36

Burns, Leanne E. "The Role of XRCC1 in the Repair of DNA Strand Breaks in Skeletal Muscle Differentiation." Thèse, Université d'Ottawa / University of Ottawa, 2011. http://hdl.handle.net/10393/20225.

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Caspase-3 has demonstrated a non-apoptotic function in several developmental programs including skeletal muscle differentiation, yet the mechanism of action has not been fully elucidated. Under apoptotic conditions Caspase-3 induces DNA fragmentation through activation of CAD. Recent observations have demonstrated CAD activity and the resulting DNA strand breaks are also vital for skeletal muscle differentiation. These breaks are transient in nature, suggesting an active DNA repair program to maintain genomic integrity. The aim of this study was to delineate the DNA repair mechanism coordina
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Cherrier, Marie. "La régulation de l'expression du gène de la Terminal déoxynucléotidyl Transférase (TdT) murine." Paris 6, 2004. http://www.theses.fr/2004PA066050.

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38

Kuehlmann, Ulrike. "The crystal structure of the complex of the Escherichia coli colicin E9 DNase domain with its cognate immunity protein Im9." Thesis, University of East Anglia, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.266751.

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39

Yuan, Fenghua, Tanmay Dutta, Ling Wang, et al. "Human DNA Exonuclease TREX1 Is Also an Exoribonuclease That Acts on Single-stranded RNA." Digital Commons @ East Tennessee State University, 2015. https://dc.etsu.edu/etsu-works/6537.

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3′ repair exonuclease 1 (TREX1) is a known DNA exonuclease involved in autoimmune disorders and the antiviral response. In this work, we show that TREX1 is also a RNA exonuclease. Purified TREX1 displays robust exoribonuclease activity that degrades single-stranded, but not double-stranded, RNA. TREX1-D200N, an Aicardi-Goutieres syndrome disease-causing mutant, is defective in degrading RNA. TREX1 activity is strongly inhibited by a stretch of pyrimidine residues as is a bacterial homolog, RNase T. Kinetic measurements indicate that the apparent Km of TREX1 for RNA is higher than that for DNA.
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40

Kruth, Karina Annette. "Effects of three deafness-causing gamma-actin mutations on actin structure and function." Diss., University of Iowa, 2013. https://ir.uiowa.edu/etd/1475.

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Hearing requires proper function of the auditory hair cell, which is critically dependent upon its actin-based cytoskeletal structure. Eleven point mutations in gamma (γ) nonmuscle actin have been identified as causing progressive autosomal dominant nonsyndromic hearing loss (DFNA20/26); however, exactly why these mutations lead to deafness is unclear. Organization, stability, and repair of the hair cell cytoskeleton are highly regulated by actin binding proteins (ABPs), and two of the mutations, K118M and K118N, are located near an area of the actin monomer believed to be important in actin-A
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Nagel, Sebastian. "Untersuchung zur Funktion von DNase Ι hypersensitiven Bereichen an der 3`Grenze der Igλ-Domäne im Sinne eines „Insulator/Boundary“ Elementes". Diss., lmu, 2010. http://nbn-resolving.de/urn:nbn:de:bvb:19-122625.

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42

Karabacak, Calviello Aslihan. "Characterization of cis-regulatory elements via open chromatin profiling." Doctoral thesis, Humboldt-Universität zu Berlin, 2019. http://dx.doi.org/10.18452/20339.

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Cis-regulatorische Elemente wie Promotoren und Enhancer, die die Regulation der Transkription von Genen steuern, befinden sich in Regionen des dekondensierten Chromatins. DNase-seq und ATAC-seq sind weit verbreitete Verfahren, um solche offenen Chromatinregionen genomweit zu untersuchen. Die einzel-Nukleotid-Auflösung von DNase-seq wurde des Weiteren genutzt, um Transkriptionsfaktor-Bindungsstellen (TFBS) in regulatorischen Regionen durch TF-Footprinting zu bestimmen. Kürzlich durchgeführte Studien haben jedoch gezeigt, dass DNase I einen Sequenzbias aufweist, welcher nachteilige Auswirkungen
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Bora, P. "AN INTEGRATIVE APPROACH TO IDENTIFY BINDING PARTNERS OF MYC USING (EPI)GENOMICS DATA IN THE 3T9MYCER, EU-MYC AND TET-MYC SYSTEMS." Doctoral thesis, Università degli Studi di Milano, 2017. http://hdl.handle.net/2434/471632.

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The c-MYC oncogene encodes the transcription factor Myc, which regulates a large number of biological processes and is overexpressed in a large number of cancers. When overexpressed, Myc binds to almost all open promoters but only regulates specific subsets of genes. We investigated this issue in three systems where Myc is overexpressed: 3T9MycER fibroblasts, Eµ-myc B cells and tet-MYC liver cells, through an approach integrating different types of next generation sequencing data, such as DNase-seq footprinting, ChIP-seq and RNA-seq, with motif analysis and machine learning methods (random for
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Eichner, Ruth [Verfasser], та Hans-Gustav [Akademischer Betreuer] Klobeck. "Darstellung und funktionelle Charakterisierung von DNase I hypersensitiven Bereichen an der 5' Grenze des humanen Immunoglobulin-λ-Locus / Ruth Eichner. Betreuer: Hans-Gustav Klobeck". München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2014. http://d-nb.info/1052015417/34.

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45

Johansson, Annelie. "Identifying gene regulatory interactions using functional genomics data." Thesis, Uppsala universitet, Institutionen för biologisk grundutbildning, 2014. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-230285.

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Previously studies used correlation of DNase I hypersensitivity sites sequencing (DNase-seq) experiments to predict interactions between enhancers and its target promoter gene. We investigate the correlation methods Pearson’s correlation and Mutual Information, using DNase-seq data for 100 cell-types in regions on chromosome one. To assess the performances, we compared our results of correlation scores to Hi-C data from Jin et al. 2013. We showed that the performances are low when comparing it to the Hi-C data, and there is a need of improved correlation metrics. We also demonstrate that the u
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Purcaro, Michael J. "Analysis, Visualization, and Machine Learning of Epigenomic Data." eScholarship@UMMS, 2017. https://escholarship.umassmed.edu/gsbs_diss/938.

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The goal of the Encyclopedia of DNA Elements (ENCODE) project has been to characterize all the functional elements of the human genome. These elements include expressed transcripts and genomic regions bound by transcription factors (TFs), occupied by nucleosomes, occupied by nucleosomes with modified histones, or hypersensitive to DNase I cleavage, etc. Chromatin Immunoprecipitation (ChIP-seq) is an experimental technique for detecting TF binding in living cells, and the genomic regions bound by TFs are called ChIP-seq peaks. ENCODE has performed and compiled results from tens of thousands of
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Olivares, Elodie. "Évaluation de l'impact des antibiotiques sur la formation de biofilms par P. aeruginosa : place de l'Antibiofilmogramme®." Thesis, Strasbourg, 2017. http://www.theses.fr/2017STRAJ074/document.

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Les patients mucoviscidosiques sont prédisposés à une colonisation chronique de l’arbre bronchique par P. aeruginosa. Ce pathogène opportuniste se caractérise par sa capacité à adhérer à une surface et à y former un biofilm protecteur, hautement tolérant aux agents antimicrobiens. En routine, les antibiogrammes sont effectués sur des cultures bactériennes planctoniques. L’efficacité des antibiothérapies ainsi sélectionnées est donc peu probante pour l’éradication des biofilms bactériens. La réalisation d’Antibiofilmogrammes® sur des isolats cliniques mucoviscidosiques (nouvel outil évaluant la
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48

Pilonieta, Maria Carolina. "Transcriptional Regulation of Virulence Genes in Enterotoxigenic Escherichia coli and Shigella flexneri by Members of the AraC/XylS Family." Scholarly Repository, 2008. http://scholarlyrepository.miami.edu/oa_dissertations/111.

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Pathogenesis of enterotoxigenic Escherichia coli (ETEC) and Shigella flexneri relies predominantly on members of the AraC/XylS family of transcriptional regulators, Rns (or its homolog, CfaD) and MxiE, respectively. Rns/CfaD regulate the expression of pili, which allow the bacteria to attach to the intestinal epithelium. Better understanding of the role Rns plays in virulence was attained by expanding our knowledge of the Rns regulon, revealing that it functions as an activator of cexE, a previously uncharacterized gene. By in vitro DNase I footprinting two Rns-binding sites were identified
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49

Col, Bekir. "Footprint Analysis of the Transcriptional Control of Glycogen Phosphorylase 2 in Dictyostelium Discoideum." Thesis, Virginia Tech, 1997. http://hdl.handle.net/10919/33366.

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Glycogen phosphorylase 2 (gp-2) is a key enzyme during the development of Dictyostelium discoideum. The gp-2 enzyme breaks down glycogen into glucose monomers that are subsequently used to synthesize the terminal end products of cellular differentiation. This gene is an ideal candidate for studying the process of selective gene expression because its product figures so prominently in the development of this organism, implying a dependable control mechanism responsible for its developmentally regulated expression. I present in this thesis the identification of several putative cis-acting eleme
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Günther, Claudia, Michael Meurer, Annette Stein, Antje Viehweg, and Min-Ae Lee-Kirsch. "Familial Chilblain Lupus – A Monogenic Form of Cutaneous Lupus Erythematosus due to a Heterozygous Mutation in TREX1." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-135462.

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Chilblain lupus erythematosus is a rare form of cutaneous lupus erythematosus characterized by bluish red infiltrates in acral locations of the body mostly affecting middle-aged women. We recently described a familial form of chilblain lupus manifesting in early childhood caused by a heterozygous mutation in the TREX1 gene, which encodes a 3′-5′ DNA exonuclease. Thus, familial chilblain lupus represents the first monogenic form of cutaneous lupus erythematosus. Here we describe the unusual clinical course of this newly defined genodermatosis in an 18-year-old female member of the family in whi
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