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Dissertations / Theses on the topic 'DnaG primase'

Author: Grafiati

Published: 4 March 2024

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1

Wolter, Gwen Annette. "Charakterisierung der Strahlen-induzierten Komplexbildung von DNA-Polymerase [alpha]-Primase [Alpha-Primase] mit dem Tumorsuppressorprotein p53." [S.l.] : [s.n.], 2001. http://deposit.ddb.de/cgi-bin/dokserv?idn=967492394.

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2

Pan, Hu. "Structural and biochemical studies of DNA primase from Bacillus stearothermophilus." Thesis, University of Oxford, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.302122.

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3

Borazjani, Gholami Farimah. "Role of replicative primase in lesion bypass during DNA replication." Thesis, University of Sussex, 2017. http://sro.sussex.ac.uk/id/eprint/68762/.

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Maintenance of genome integrity and stability is fundamental for any form of life. This is complicated as DNA is highly reactive and always under attack from a wide range of endogenous and exogenous sources which can lead to different damages in the DNA. To preserve the integrity of DNA replication, cells hav evolved a variety of DNA repair pathways. DNA damage tolerance mechanisms serve as the last line of defence to rescue the stalled replications forks. TLS, error-prone type of DNA damage tolerance, acts to bypass DNA lesions and allows continuation of DNA replication. Surprisingly majority

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4

Desogus, Gianluigi. "Structural studies of lysyl-tRNA synthetases and DNA primases." Thesis, Imperial College London, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.369258.

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5

Liku, Muluye E. "CDK regulation of replication proteins: Mcm2-7 and DNA polymerase alpha primase." Diss., Search in ProQuest Dissertations & Theses. UC Only, 2008. http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&res_dat=xri:pqdiss&rft_dat=xri:pqdiss:3324598.

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6

Ligat, Gaëtan. "Cytomégalovirus humain, mutations de résistance et nouvelles cibles thérapeutiques." Thesis, Limoges, 2017. http://www.theses.fr/2017LIMO0046/document.

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Le cytomégalovirus humain (CMVH) est un pathogène opportuniste majeur en cas d’immunodépression et représente la principale cause d’infection congénitale d’origine virale. Bien qu’efficaces, l’utilisation des molécules conventionnelles est limitée par l’émergence de résistance et leur toxicité. Il devient alors nécessaire de développer de nouveaux traitements.L’étude des nouvelles mutations émergeant sous traitement antiviral demeure donc essentielle. L’introduction de ces nouvelles mutations, par mutagénèse « en passant », dans un chromosome bactérien artificiel contenant le génome viral nous

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7

Morley, Stewart Anthony. "Interactions Between the Organellar Pol1A, Pol1B, and Twinkle DNA Replication Proteins and Their Role in Plant Organelle DNA Replication." BYU ScholarsArchive, 2019. https://scholarsarchive.byu.edu/etd/8128.

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Plants maintain organelle genomes that are descended from ancient microbes. Ages ago, these ancient microbes were engulfed by larger cells, beginning a process of co-evolution we now call the endo-symbiotic theory. Over time, DNA from the engulfed microbe was transferred to the genome of the larger engulfing cell, eventually losing the ability to be free-living, and establishing a permanent residency in the larger cell. Similarly, the larger cell came to rely so much on the microbe it had engulfed, that it too lost its ability to survive without it. Thus, mitochondria and plastids were born. N

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8

Merryweather, Andrew. "The role of DNA primases specified by plasmids RP4 and ColIb-P9." Thesis, University of Leicester, 1986. http://hdl.handle.net/2381/34448.

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9

Bayes, Michelle. "A molecular phylogenetic study of the galagos, strepsirrhine primates and archontan mammals." Thesis, Oxford Brookes University, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.266454.

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10

Rudd, Sean G. "Cellular and biochemical characterisation of PrimPol, a novel eukaryotic primase-polymerase involved in DNA damage tolerance." Thesis, University of Sussex, 2013. http://sro.sussex.ac.uk/id/eprint/45543/.

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Genome stability is of upmost importance to life. DNA polymerases are essential for the duplication and maintenance of the genome but they cannot themselves begin synthesis of a DNA chain, and require the activity of specialised RNA polymerases called primases. In eukaryotic cells distinct enzymes catalyse these two essential processes. This thesis contains the characterisation of coiled-coil domain containing protein (CCDC)111, a previously uncharacterised protein conserved in a broad range of unicellular and multicellular eukaryotes including humans. CCDC111 is a member of the archaeaoeukaro

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11

Bianchi, Julie. "Investigating the role of a novel primase-polymerase, PrimPol, in DNA damage tolerance in vertebrate cells." Thesis, University of Sussex, 2013. http://sro.sussex.ac.uk/id/eprint/45544/.

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Genome duplication is an essential task our cells have to achieve prior to cell division, and requires a highly specialized replication machinery to ensure it is performed in an accurate and complete manner. DNA primase and polymerases are essential components of the replisome. Primases initiate DNA replication by synthesising short RNA primers that are then elongated by faithful and processive replicative DNA polymerases. However, both exogenous and endogenous agents can damage DNA and hinder progression of the replicative machinery. Translesion synthesis DNA polymerases assist in bypassing t

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12

Lynch, Magnus David. "The role of primary DNA sequence in templating chromatin states." Thesis, University of Oxford, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.543027.

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13

Reeves, Richard Guy. "Molecular zoogeography and evolution of primary freshwater fishes in Central-America." Thesis, University of Newcastle Upon Tyne, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.340798.

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14

Henderson, Dorian Travis. "Activity of the long and short forms of the plasmid-encoded primase, MobA and RepB', in vegetative and conjugal replication of the broad-host-rang plasmid R1162 /." Digital version accessible at:, 1998. http://wwwlib.umi.com/cr/utexas/main.

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15

Bailey, Elisabeth Ann 1967. "Mutagenesis by the primary aflatoxin B₁ DNA adduct in Escherichia coli." Thesis, Massachusetts Institute of Technology, 1996. http://hdl.handle.net/1721.1/40572.

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16

Keen, Benjamin A. "Molecular dissection of PrimPol, a novel primase-polymerase involved in damage tolerance during DNA replication in eukaryotic cells." Thesis, University of Sussex, 2015. http://sro.sussex.ac.uk/id/eprint/54095/.

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PrimPol is a recently identified member of the archaeo-eukaryotic primase (AEP) family of proteins. It possesses both primase and polymerase activities and is involved in the replication of both nuclear and mitochondrial DNA. PrimPol is predicted to possess an AEP polymerase and a UL52-like zinc finger domain. This thesis establishes the roles of these domains in the context of PrimPol's catalytic activities. Although apparently dispensable for polymerase activity, the zinc finger is essential for maintaining primase activity and also appears to play an important role in regulating the process

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17

Lu, Yang. "Functional studies of new protein-protein interactions potentially involved in homologous recombination in hyperthermophilic archaea : study of interactions between PCNA and Mre11-Rad50 complex & Primase and RadA." Thesis, Brest, 2018. http://www.theses.fr/2018BRES0077/document.

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Les archées hyperthermophiles ont une température optimale de croissance supérieure à 80°C.Les cellules exposées à un stress thermique subissent une augmentation de la sensibilité aux agents induisant des cassures double brin de l’ADN. Les études sur les eucaryotes et bactéries ont démontré que la recombinaison homologue joue un rôle essentiel non seulement dans la réparation de l’ADN, mais aussi dans le redémarrage des arrêts de la fourche de réplication. Les enzymes associées aux étapes initiales de la recombinaison homologue chez les archées sont homologues à celles des eucaryotes, et diffé

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18

Droney, Kelly Eileen. "The evolution of a bmp5 enhancer in primates." Kent State University / OhioLINK, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=kent1310587653.

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19

Brockmann, William G. Eick J. David. "An investigation of a rapid fluorescence microtiter plate methodology for measuring chemically-induced DNA damage, suitable for use in development of a primary DNA damage database." Diss., UMK access, 2004.

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Thesis (Ph. D.)--School of Dentistry and School of Pharmacy. University of Missouri--Kansas City, 2004.<br>"A dissertation in oral biology and pharmacology." Advisor: J. David Eick. Typescript. Vita. Title from "catalog record" of the print edition Description based on contents viewed Feb. 22, 2006. Includes bibliographical references (leaves 176-189). Online version of the print edition.

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20

Guillet-Renard, Claire. "Évolution des îlots CpG chez les primates." Thesis, Lyon 1, 2009. http://www.theses.fr/2009LYO10162.

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Cette thèse a pour l’objet l’étude des pressions de sélection qui s’appliquent sur les îlots CpG, courtes séquences génomiques qui échappent à la méthylation chez les mammifères. Nous avons tout d’abord étudié les caractéristiques génomiques des îlots CpG, notamment leurs liens avec l’initiation de transcription des gènes et les origines de réplication de l’ADN, en utilisant des jeux de données récemment publiés. Nous avons ensuite déterminé si les caractéristiques de séquence des îlots CpG (richesse en dinucléotides CpG et richesse en GC) étaient sous pression de sélection et pouvaient jouer

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21

Kransdorf, Evan Paul. "Purification and Characterization of a Methyl-DNA Binding Protein Complex from Primary Erythroid Cells." VCU Scholars Compass, 2004. http://hdl.handle.net/10156/1685.

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22

Martin, Paul Ryan. "Studies on the Primary Mechanisms of (6-4) photolyase : Photoactivation and DNA Repair." Thesis, Paris 6, 2014. http://www.theses.fr/2014PA066375/document.

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Ce travail concerne les mécanismes photoinduits d’une flavoprotéine appartenant à la famille des cryptochromes et photolyases (CPF) : la photolyase (6-4). En utilisant de la lumière bleue cette protéine répare un dommage de l’ADN induit par les UV, le photoproduit (6-4). Nous avons étudié cette photoreparation ainsi qu’une autre réaction photoactivée que la photolyase utilise pour réduire son cofacteur flavine, la photoactivation. Nous avons faits nos études en utilisant la photolyase (6-4) de Xenopus laevis. Nous avons étudié la photoréduction du chromophore FADox de l’enzyme par spectroscopi

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23

Gallego, Jiménez Alicia 1985. "Addressing functional and evolutionary implications of microRNA variation at the DNA and RNA levels in primates." Doctoral thesis, Universitat Pompeu Fabra, 2016. http://hdl.handle.net/10803/585943.

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microRNAs are small non-coding RNAs with crucial roles in gene regulation and whose contribution to animal evolution has been largely demonstrated. In this thesis we explored some functional consequences of microRNA sequence variation and their possible effects in primate evolution. We first evaluated microRNA nucleotide variation at the genomic level in great apes. Taking advantage of recently published whole-genome sequencing data from 82 individuals including oragutans, gorillas, bonobos, chimpanzees and humans, we analyzed microRNA sequence conservation patterns, both among and within popu

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24

ROSSIELLO, FRANCESCA. "PERSISTENT DNA DAMAGE AT TELOMERES, CAUSED BY TRF2-MEDIATED DNA REPAIR INHIBITION, TRIGGERS CELLULAR SENESCENCE AND IS ASSOCIATED WITH PRIMATES AGEING." Doctoral thesis, Università degli Studi di Milano, 2014. http://hdl.handle.net/2434/234141.

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The DNA damage response (DDR) coordinates DNA repair events and transiently arrests cell-cycle progression until DNA damage has been removed. If the damage is not resolved, cells can enter an irreversible cell cycle arrest called cellular senescence. In irradiation-induced senescent cells a large fraction of persistent DDR markers are associated with telomeric DNA, both in cultured cells and in in vivo tissues. The aim of my PhD project was to investigate the mechanism underlying this phenomenon. I showed that persistent DDR activation has a causative role for the senescence-associated cell

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25

Esbenshade, Timothy A. "Characterization of [alpha]₁-adrenergic receptor mediated DNA and protein syntheses in primary cultured rat hepatocytes /." The Ohio State University, 1991. http://rave.ohiolink.edu/etdc/view?acc_num=osu1487687115925499.

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26

Burger, Katharina [Verfasser]. "Influence of different noxa on DNA repair capacity of primary human skin cells / Katharina Burger." Konstanz : Bibliothek der Universität Konstanz, 2011. http://d-nb.info/1017360456/34.

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27

Valle, Rodrigo Del Rio do. "Colheita, análise e criopreservação de sêmen de uma espécie modelo de primata neotropical, Sagui-de-Tufo-Branco (Callithrix jacchus)." Universidade de São Paulo, 2007. http://www.teses.usp.br/teses/disponiveis/10/10131/tde-21052007-103859/.

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A espécie Callithrix jacchus pode ser utilizada como modelo experimental para outras espécies de primatas neotropicais, principalmente Callithriquídeos. Colheu-se sêmen desta espécie com os objetivos de otimizar a colheita de sêmen por vibro estimulação peniana, validar técnicas de avaliação espermática que possam ser utilizadas a campo, comparar as características seminais de indivíduos de duas colônias (Brasil e Alemanha), testar diferentes protocolos de congelação espermática e avaliar a atividade citoquímica mitocondrial (DAB) e a fragmentação de DNA de espermatozóides congelados. As técni

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28

Xu, Ke. "Comparative genomic and epigenomic analyses of human and non-human primate evolution." Diss., Georgia Institute of Technology, 2013. http://hdl.handle.net/1853/52935.

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Primates are one of the best characterized phylogenies with vast amounts of comparative data available, including genomic sequences, gene expression, and epigenetic modifications. Thus, they provide an ideal system to study sequence evolution, regulatory evolution, epigenetic evolution as well as their interplays. Comparative studies of primate genomes can also shed light on molecular basis of human-specific traits. This dissertation is mainly composed of three chapters studying human and non-human primate evolution. The first study investigated evolutionary rate difference between sex chrom

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29

James, Samantha. "Herpèsvirus de primates et de chauves-souris du nouveau monde : modèles d'étude des relations évolutives hôtes-virus DNA polymerase sequences of New World Monkey Cytomegaloviruses : another molecular marker with which to infer Platyrrhini systematics Novel herpesviruses of neotropical bats and their relationships with other members of the Herpesviridae family." Thesis, Guyane, 2019. http://www.theses.fr/2019YANE0004.

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Les virus appartenant à la famille Herpesviridae (ordre Herpesvirales) sont répartis au sein de trois sous-familles : Alpha-, Beta- et Gamma-herpesvirinae. Ils ont été identifiés à partir d’un large spectre d’espèces hôtes, allant des mammifères aux reptiles en passant par les oiseaux et ont la capacité de persister toute au long de la vie de l’hôte. La plupart de ces virus sont par ailleurs spécifiques d’une espèce hôte. La large distribution des herpèsvirus, associée à une infection généralement asymptomatique chez l’hôte naturel suggèrent que ces virus auraient co-évolué avec leurs hôtes.Mo

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30

DANCKAERT, PERRUCHOT ANNE. "Traitement informatique des autoradiographies de gels de sequences : conception et mise en oeuvre d'un systeme automatique d'interpretation d'autoradiographies, elaboration d'un algorithme de construction de la sequence consensus a partir de fragments." Paris 7, 1988. http://www.theses.fr/1988PA077045.

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31

Laubscher, Maxine. "Genetic and morphological comparisons within the orthopteran family Pneumoridae." University of the Western Cape, 2019. http://hdl.handle.net/11394/7949.

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>Magister Scientiae - MSc<br>Bladder grasshoppers belong to the order Orthoptera, ancient family Pneumoridae and Superfamily Pneumoroidea. This small group of grasshoppers are sound producing, nocturnal, herbivorous grasshoppers endemic to the coastal regions of southern Africa. Very little genetic work has been done on these grasshoppers, and there is some taxonomic confusion regarding the validity of some species descriptions. The aim of this study was to provide much needed clarity on the true taxonomic diversity and polymorphic attributes within the Pneumoridae, focusing on selected taxa o

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32

Marcaud, Hélène. "Etude sur les transitions coopératives et les cinétiques de transconformation associées dans les acides nucléiques." Paris 6, 1986. http://www.theses.fr/1986PA066514.

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33

Jones, Christine. "A candidate gene based investigation of aberrant DNA methylation in the pathogenesis of primary cutaneous T-cell lymphoma." Thesis, King's College London (University of London), 2012. https://kclpure.kcl.ac.uk/portal/en/theses/a-candidate-gene-based-investigation-of-aberrant-dna-methylation-in-the-pathogenesis-of-primary-cutaneous-tcell-lymphoma(dacab6e6-a162-4ac7-9cca-fd77cd3ae576).html.

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Primary cutaneous T-cell lymphoma (CTCL) is a clinically heterogeneous malignancy of mature skin-homing T-cells. Mycosis fungoides (MF) is an indo¬lent subtype of CTCL whilst Sezary syndrome (SS) is an aggressive leukaemic variant characterised by the presence of malignant Sezary cells in the periph¬eral blood. A role for epigenetic mechanisms in the pathogenesis of CTCL has been proposed but not extensively investigated. In this thesis, the contribution of DNA methylation to the regulation of SHP-1, Fas and PLS3, which have been implicated in the pathogenesis of CTCL, was examined. Gene expre

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34

Goidts, Violaine. "Identification of large-scale DNA copy number differences between human and non-human primate genomes and their role in mediating evolutionary rearrangements." [S.l. : s.n.], 2006. http://nbn-resolving.de/urn:nbn:de:bsz:289-vts-56317.

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35

Cangiano, daniela. "Detection of KCNJ5 mutations in the APA tissues and cell-free DNA with a novel Taqman-based approach." Doctoral thesis, Università degli studi di Padova, 2015. http://hdl.handle.net/11577/3424711.

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Background: Primary aldosteronism (PA) is the most common endocrine form of secondary arterial hypertension with an estimated prevalence of ~ 11.2% in patients referred to specialized centers and 4% in primary care, but as high as 50% in patients with resistant hypertension. The two main forms of PA are: aldosterone-producing adenoma (APA), surgically curable with the removal of adenoma that is able to overproduce aldosterone, and bilateral adrenocortical hyperplasia (BAH), which needs drug therapy. About ~ 30% APAs have somatic mutations in KCNJ5 gene that encodes for the potassium channel (K

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36

Contri, Daniela Gazoto. "Detecção de resíduos de DNA em alimentos: avaliação da qualidade, da quantidade e da capacidade de amplificação por PCR de DNA extraído de matérias-primas e produtos acabados para fins de análise de transgenia." Universidade de São Paulo, 2006. http://www.teses.usp.br/teses/disponiveis/9/9131/tde-20122006-143753/.

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O objetivo do trabalho foi avaliar a qualidade, a quantidade e a capacidade de amplificação por PCR de DNA extraído de grãos de soja e milho, seus derivados e produtos acabados contendo como ingredientes obtidos desses grãos, com vistas à detecção de resíduos de organismos geneticamente modificados em alimentos. Para a amplificação de DNA pela PCR convencional, não houve melhor adequação de um protocolo de extração. Ambos métodos, CTAB e coluna de sílica tiveram desempenho comparável para as 32 matrizes avaliadas. A técnica de PCR em tempo real se mostrou mais sensível à qualidade do DNA tes

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Cabuy, Erik. "Investigations of telomere maintenance in DNA damage response defective cells and telomerase in brain tumours." Thesis, Brunel University, 2005. http://bura.brunel.ac.uk/handle/2438/5157.

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Telomeres are nucleoprotein complexes located at the end of chromosomes. They have an essential role in protecting chromosome ends. Telomerase or ALT (alternative lengthening of telomeres) mechanisms maintain telomeres by compensating natural telomeric loss. We have set up a flow-FISH method and using mouse lymphoma cell lines we identified unexpectedly the presence of subpopulations of cells with different telomere lengths. Subpopulations of cells with different telomere lengths were also observed in a human ALT and non-ALT cell line. Differences in telomere length between subpopulations of c

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38

Soto-Calderon, Ivan D. "Evolution of Nuclear Integrations of the Mitochondrial Genome in Great Apes and their Potential as Molecular Markers." ScholarWorks@UNO, 2012. http://scholarworks.uno.edu/td/1510.

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The mitochondrial control region (MCR) has played an important role as a population genetic marker in many taxa but sequencing of complete eukaryotic genomes has revealed that nuclear integrations of mitochondrial DNA (numts) are abundant and widespread across many taxa. If left undetected, numts can inflate mitochondrial diversity and mislead interpretation of phylogenetic relationships. Comparative analyses of complete genomes in humans, orangutans and chimpanzees, and preliminary studies in gorillas have revealed high numt prevalence in great apes, but rigorous comparative analyses across t

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39

Reis, Leonardo Mariano. "Glaucoma primário de ângulo aberto e DNA mitocondrial: uma análise da produção científica." Pontifícia Universidade Católica de Goiás, 2013. http://localhost:8080/tede/handle/tede/2368.

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Made available in DSpace on 2016-08-10T10:38:44Z (GMT). No. of bitstreams: 1 Leonardo Mariano Reis.pdf: 8263558 bytes, checksum: d4842ddc6615e7587ee43da1794b8d63 (MD5) Previous issue date: 2013-03-18<br>Abstract of the First Chapter Objective: The objective was to make a wide review of the literature about the genetic aspects of glaucoma, with a highlight at the works dealing with mitochondrial DNA. Methods: Bibliographical research was carried out accessing the sites Scopus, Science Direct, PubMed, Scirus, Scielo and Google. Books, theses and dissertations were also used at the research. Re

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Han, Thomas. "Development of a dna vaccine against _streptococcus mutans_: A novel approach to immunization against dental caries." Scholar Commons, 2005. http://scholarcommons.usf.edu/etd/2912.

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Streptococcus mutans is the main causative agent of dental caries, which is a widespread infectious disease. A number of surface molecules are involved in the pathogenicity of this organism, including adherence and aggregation factors. The wall-associated protein A (WapA) of Streptococcus mutans GS-5 was previously demonstrated to be a sucrose-dependent adherence and aggregation factor, and is a larger precursor to extracellular antigen A (AgA), a candidate antigen for a dental caries vaccine.The full-length wapA gene and a C-terminal truncated version agA encoding the AgA were cloned into the

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Oliveira, Thaís Larré. "Vacinas contra leptospirose: potencial imunoprotetor do antígeno OmpL37." Universidade Federal de Pelotas, 2014. http://repositorio.ufpel.edu.br:8080/handle/prefix/3703.

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Submitted by Maria Beatriz Vieira (mbeatriz.vieira@gmail.com) on 2017-08-29T11:52:09Z No. of bitstreams: 2 license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) dissertacao_thais_larre_oliveira.pdf: 616408 bytes, checksum: 404ac55ee19b90246334aac10658a361 (MD5)<br>Approved for entry into archive by Aline Batista (alinehb.ufpel@gmail.com) on 2017-08-29T19:49:36Z (GMT) No. of bitstreams: 2 license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) dissertacao_thais_larre_oliveira.pdf: 616408 bytes, checksum: 404ac55ee19b90246334aac10658a361 (MD5)<br>Approved for entr

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Adam, Lucille. "Dynamique de la réponse immunitaire précoce mise en place localement suite à l’injection d’un vaccin ADN associée à une électroporation chez le macaque cynomolgus." Thesis, Paris 11, 2014. http://www.theses.fr/2014PA114812/document.

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La compréhension des mécanismes immunologiques précoces mis en place suite à l’administration de vaccins est encore de nos jours largement méconnue. Pourtant de plus en plus d’études démontrent l’importance de ces mécanismes très précoces faisant intervenir les acteurs de l’immunité innée dans la génération d’une réponse spécifique efficace après vaccination. La peau est un organe intéressant pour l'administration de vaccins du fait de sa richesse en cellules présentatrices d'antigènes (APC), qui sont des cellules essentielles dans la mise en place de la réponse immunitaire. L'administration p

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Trinade, Rhaysa Avila. "Hibrida??o e introgress?o em zona de contato entre Alouatta guariba clamitans e Alouatta caraya (Primates) no sul do Brasil estudadas com dados gen?micos." Pontif?cia Universidade Cat?lica do Rio Grande do Sul, 2016. http://tede2.pucrs.br/tede2/handle/tede/7752.

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Andersson, Maria. "Chemically Induced DNA Damage in Extended-term Cultures of Human Lymphocytes." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Universitetsbiblioteket [distributör], 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-7179.

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Jäder, Klara. "Optimization of a multiplex ARMS-PCR for detection of the primary mutations causing Leber’s hereditary optic neuropath." Thesis, Uppsala universitet, Institutionen för kvinnors och barns hälsa, 2020. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-413665.

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Leber’s hereditary optic neuropathy (LHON) is a genetic disease that causes the patients to become blind, first in one eye and then the other, around the ages of 10-75 years. The disease is caused by mutations in the mitochondrial DNA, which disturbs the respiratory chain leading to the deterioration of the retinal ganglion cells. This study’s aim is to optimize a multiplex amplification-refractory mutation system PCR for detection of three primary mutations causing LHON. This was done through a series of PCRs, including PCR aimed at the ß-globin gene, conventional simplex PCR and a simplex AR

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Imgenberg-Kreuz, Juliana. "Epigenetic and Gene Expression Signatures in Systemic Inflammatory Autoimmune Diseases." Doctoral thesis, Uppsala universitet, Molekylär medicin, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-310388.

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Autoimmune diseases are clinical manifestations of a loss-of-tolerance of the immune system against the body’s own substances and healthy tissues. Primary Sjögren’s syndrome (pSS) and systemic lupus erythematosus (SLE) are two chronic inflammatory autoimmune diseases characterized by autoantibody production and an activated type I interferon system. Although the precise mechanisms leading to autoimmune processes are not well defined, recent studies suggest that aberrant DNA methylation and gene expression patterns may play a central role in the pathogenesis of these disorders. The aim of this

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Milella, Maria Serena. "Study of molecular mechanisms and pharmacological approaches of Alkaptonuria's disease." Doctoral thesis, Università di Siena, 2022. http://hdl.handle.net/11365/1204563.

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Alkaptonuria (AKU) is an autosomal recessive disorder, called also Black Bone Disease, for the characteristic dark coloration that some tissues and parts of the body assumed. The pathology is caused by the failure of the enzyme homogentisate 1,2- dioxygenase (HGD), that leads the accumulation of the metabolic intermediate homogentisic acid (HGA), derived by tyrosine. HGA highly reactivity triggers the formation of HGA-derived oxidized products, that react with cellular macromolecules, causing a significant generation of ROS and occurrence of oxidative stress. The ongoing oxidative stress statu

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Sarkar, Purbasha. "Cell death mechanisms leading to vascular cavity formation in pea (Pisum sativum) L. ‘Alaska’) primary roots." Miami University / OhioLINK, 2008. http://rave.ohiolink.edu/etdc/view?acc_num=miami1218090008.

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ALVARENGA, C. S. "Diversidade e estruturação genética de Brachyteles hypoxanthus (Primates: Atelidae) em um ambiente fragmentado no município de Santa Maria de Jetibá (ES) usando DNA mitocondrial e nuclear." Universidade Federal do Espírito Santo, 2010. http://repositorio.ufes.br/handle/10/3817.

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Made available in DSpace on 2016-08-29T15:09:10Z (GMT). No. of bitstreams: 1 tese_4021_.pdf: 837325 bytes, checksum: d404d8a63554d67e7ab3e3852a5f7c31 (MD5) Previous issue date: 2010-02-26<br>Brachyteles hypoxanthus, muriqui-do-norte, encontra-se ameaçado pela redução e fragmentação do habitat, com 12 populações remanescentes isoladas, sendo classificado como criticamente em perigo de extinção. Estudos preliminares com DNA mitocondrial (DNAmt) revelaram a população de Santa Maria de Jetibá (SMJ) como uma Unidade de Manejo, apesar do habitat menor e altamente fragmentado. O principal objetivo

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Todorova, Biliana. "Imagerie in vivo de la réponse immune locale à la vaccination par voie intradermique à l’aide d’un ADN plasmidique associée à l’électroporation chez le macaque cynomolgus." Thesis, Paris 11, 2014. http://www.theses.fr/2014PA114837.

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L’électroporation (EP) in vivo est utilisée comme stratégie d’amélioration de la réponse immune induite par les vaccins ADN. Cependant son effet sur les acteurs du système immunitaire inné reste méconnu. Dans l’objectif de mettre en évidence le comportement cellulaire sur le site de la vaccination, nous avons développé des approches d’imagerie par fluorescence in vivo chez le macaque. Nos résultats montrent que l’EP locale, augmente non seulement la quantité et la distribution de l’antigène vaccinal, mais induit également la mobilisation et la migration des cellules de Langerhans. De plus, l’E

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