Tesis sobre el tema "Genes"
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Heglind, Mikael. "Functional studies of two forkhead genes /". Göteborg : Institute of Biomedicine, Department of Medical and Clinical Genetics, The Sahlgrenska Academy at University of Gothenburg, 2010. http://hdl.handle.net/2077/21481.
Texto completoKnight, Deborah. "Novel schizophrenia risk genes and gene expression". Thesis, Cardiff University, 2012. http://orca.cf.ac.uk/47378/.
Texto completoKruskopf, Österberg Marita. "From QTLs to genes : flowering time variation and CONSTANS-LIKE genes in the black mustard /". Uppsala : Acta Universitatis Upsaliensis, 2007. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-7900.
Texto completoBerggren, Petra. "Molecular changes in the tumour suppressor genes p53 and CDKN2A/ARF in human urinary bladder cancer /". Stockholm : [Karolinska institutets bibl.], 2002. http://diss.kib.ki.se/2002/91-7349-128-4.
Texto completoBakatselou, Christina. "Genes of mitochondrial origin in the genus Entamoeba". Thesis, London School of Hygiene and Tropical Medicine (University of London), 2002. http://researchonline.lshtm.ac.uk/1343269/.
Texto completoBerggren, Bremdal Karin. "Evolution of MHC Genes and MHC Gene Expression". Doctoral thesis, Uppsala universitet, Evolutionsbiologi, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-122011.
Texto completoWilliams, Catherine Felicia. "African horse sickness virus genes and gene products". Thesis, University of Oxford, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.312217.
Texto completoGasparini, Claudia Francesca. "Identification of Migraine Susceptibility Genes: Candidate Gene Studies". Thesis, Griffith University, 2014. http://hdl.handle.net/10072/367879.
Texto completoThesis (PhD Doctorate)
Doctor of Philosophy (PhD)
School of Medical Science
Science, Environment, Engineering and Technology
Full Text
Jia, Yizhen y 贾亦真. "Bioinformatics study of the lineage and tissue specificity of genes and gene expression". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hub.hku.hk/bib/B45540652.
Texto completoKatabi, Maha M. "Transcriptional targeting of suicide genes in cancer gene therapy". Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape7/PQDD_0021/NQ55345.pdf.
Texto completoVakirlis, Nikolaos. "Evolution of gene repertoires and new genes in yeasts". Thesis, Paris 6, 2016. http://www.theses.fr/2016PA066342.
Texto completoGene repertoires are highly dynamic : Genes are duplicated, lost, transferred from one genome toanother and new genes are formed. Studying these processes and how they shape gene repertoireevolution is fundamental to our understanding of how the enormous diversity of life on earth came to be. I reconstructed the homologous gene families of the yeasts of the Lachancea genus and categorized them based on their conservation in species outside the genus into vertically inherited (98.2%), horizontally transferred (0.15%) and taxonomically restricted (1.63%). Then, I inferred the evolution of each family along the genus’ phylogeny and identified the gene gain and loss events that occurred since the genus’ origin. I found that balanced chromosomal rearrangements may be responsible for up to 14% of gene losses by disrupting the coding sequence at their breakpoints and detected 3 cases with clear traces of the disruption at the sequence level. Additionally, I found that correlations exist between the rate of protein-coding sequence divergence and the rates of gene duplication, chromosomal inversions and translocations, and gene disruptions by balanced rearrangements, suggesting the existence of a genomic clock coordinating these processes. Next, I focused on the emergence of new genes de novo from non-coding sequences, a process whose overall impact remains a matter of debate. I thus analyzed taxonomically restricted genes in the two model yeast genera Lachancea and Saccharomyces sensu stricto and identified a robust set of 596 genes that have likely emerged de novo. I found that de novo emergence rates are constant among yeasts of the same genus but differ by an order of magnitude between the two genera with 2.8 genes/my in the Saccharomyces and 0.27 genes/my in the Lachancea. De novo genes are uniformly distributed on yeast genomes and are found divergently oriented relative to their 5’ neighbors suggesting that divergent transcription might play a role in their transition from non-transcribed intergenic sequences to transcribed (and translated) coding sequences. Moreover, through specific examples I was able to show that a few enabling mutations are sufficient for a young de novo gene to emerge already well-adapted relative to older genes, indicating that the transition from non-coding to coding can happen rapidly. Overall, my results support de novo emergence as a ubiquitous evolutionary process and a potent source of novel proteins
Vakirlis, Nikolaos. "Evolution of gene repertoires and new genes in yeasts". Electronic Thesis or Diss., Paris 6, 2016. http://www.theses.fr/2016PA066342.
Texto completoGene repertoires are highly dynamic : Genes are duplicated, lost, transferred from one genome toanother and new genes are formed. Studying these processes and how they shape gene repertoireevolution is fundamental to our understanding of how the enormous diversity of life on earth came to be. I reconstructed the homologous gene families of the yeasts of the Lachancea genus and categorized them based on their conservation in species outside the genus into vertically inherited (98.2%), horizontally transferred (0.15%) and taxonomically restricted (1.63%). Then, I inferred the evolution of each family along the genus’ phylogeny and identified the gene gain and loss events that occurred since the genus’ origin. I found that balanced chromosomal rearrangements may be responsible for up to 14% of gene losses by disrupting the coding sequence at their breakpoints and detected 3 cases with clear traces of the disruption at the sequence level. Additionally, I found that correlations exist between the rate of protein-coding sequence divergence and the rates of gene duplication, chromosomal inversions and translocations, and gene disruptions by balanced rearrangements, suggesting the existence of a genomic clock coordinating these processes. Next, I focused on the emergence of new genes de novo from non-coding sequences, a process whose overall impact remains a matter of debate. I thus analyzed taxonomically restricted genes in the two model yeast genera Lachancea and Saccharomyces sensu stricto and identified a robust set of 596 genes that have likely emerged de novo. I found that de novo emergence rates are constant among yeasts of the same genus but differ by an order of magnitude between the two genera with 2.8 genes/my in the Saccharomyces and 0.27 genes/my in the Lachancea. De novo genes are uniformly distributed on yeast genomes and are found divergently oriented relative to their 5’ neighbors suggesting that divergent transcription might play a role in their transition from non-transcribed intergenic sequences to transcribed (and translated) coding sequences. Moreover, through specific examples I was able to show that a few enabling mutations are sufficient for a young de novo gene to emerge already well-adapted relative to older genes, indicating that the transition from non-coding to coding can happen rapidly. Overall, my results support de novo emergence as a ubiquitous evolutionary process and a potent source of novel proteins
Zid, Mouldi. "Gene Conversions in the Siglec and CEA Immunoglobulin Gene Families of Primates". Thèse, Université d'Ottawa / University of Ottawa, 2013. http://hdl.handle.net/10393/23625.
Texto completoJohansson, Karin. "Analysis of immunoglobulin gene expression focus on Oct2 /". Lund : Dept. of Cell and Molecular Biology, Lund University, 1995. http://catalog.hathitrust.org/api/volumes/oclc/39776663.html.
Texto completoSocal, Mariana Peixoto. "Genes principais e genes predisponentes à doença de Parkinson : estudo sobre os genes PARK2, PARK6, PARK7, PARK8, SCA1, SCA2, SCA3, SCA6, SCA7 e o gene da glucocerebrosidase". reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2008. http://hdl.handle.net/10183/16850.
Texto completoB, Kingdon Lorraine. "Movable Genes". College of Agriculture, University of Arizona (Tucson, AZ), 1990. http://hdl.handle.net/10150/295641.
Texto completoNunes, Diana Noronha. "Caracterização de novos genes humanos envolvidos no processo de regulação da expressão de genes homeóticos". Universidade de São Paulo, 2004. http://www.teses.usp.br/teses/disponiveis/46/46131/tde-28112014-152127/.
Texto completoThe identity of body segmentation in several organisms during development is, to a large extent, due to the action of the homeotic proteins. In particular, two groups of proteins, the Trithorax (trxG) and Polycomb (PcG), have a major role in maintenance of respectively, transcription activation and repression, when associated to the chromatin. The importance of PcGs has motivated us to pursue the isolation and characterization of two new human proteins that are orthologs of the \"Enhancer of Polycomb\" (Epc) of Drosophila. To achieve this goal we undertook the task of the cloning and mapping of complete cDNA sequence of the novel genes hEPC1 and hEPC2, analyzing its expression in fetal, adult and tumoral tissues and functionally characterizing the hEPC2 protein. In 2001, we published the mapping and cloning of the complete cDNA sequences of both genes, as being orthologs of the mouse Epc1 (10p11-22) and Epc2 (2q21-23), together with the strategy used to obtain the full-length cDNAs (Camargo et al., 2001). Both genes are shown to be highly conserved among several species. Thus, the human hEPC2 cDNA is 94% identical to the mouse Epc2 and displays 96% identity at the protein level, suggesting maintenance of its function during the evolution. However, the protein sequences of the human hEPC1 and hEPC2 display only 68% identity. Therefore, it is likely that they have undergone a functional divergence after their duplication. The expression of both genes was evaluated using \"dot-blots\" containing 76 mRNAs samples from fetal, adult and tumoral tissues and is shown to be weak and ubiquitous. \"In silico\" analysis suggested the existence of 4 hEPC2 splicing isoforms that were validated by RT-PCR and/or Northern-blots. One of the isoforms (of 2.7 Kbp) is shown to be more abundant in all of the tumoral cell lines evaluated using Northern-blot analysis, mainly in the Burkit\'s Raji lymphoma and in the promyelocytic leukemia HL-60. This isoform results from the use of an alternative polyadenylation site that reduces the 3\'UTR, abolishing 4 of 5 \"adenylates and urilates rich elements\" (AREs), involved in the degradation of labile mRNAs that codify to regulatory proteins. These results have been recently submitted to publication (manuscript attached to this thesis). Interaction between the hEPC2/SMADs and its modulation by TGF-β. During the assembly of the hEPC2 full-length cDNA sequence, we found two patented ESTs that tagged a portion of the gene. These sequences were described as partial sequences of a \"new SMAD interacting protein\", involved in signal transduction of TGF-β, a cytokine that regulates cell proliferation, differentiation and death. To evaluate this putative interaction between hEPC2 and the SMADs proteins, we begun a collaboration with the TGF-β signalling group of the Dr. Aristidis Moustakas, from the Uppsala Ludwig Institute for Cancer Research, Sweden. The results of co-imunoprecipitation assays suggested that SMADs 2, 3, 4, 7 e 8 interact with hEPC2. Moreover, the interaction among SMAD2, SMAD3, SMAD4 and hEPC2 in cells treated with TGF-β1 showed decreased co-imunoprecipitation. This result suggests that TGF-β1 negatively modulates the interaction of these proteins. Likewise, we observed a reduction in hEPC2 interaction with SMAD8 upon BMP-7 treatment. This effect was even more dramatic for SMADs 2 and 3. These data were observed for both hEPC2 plasmid constructs, which strongly suggest the veracity of these proteins interaction. The cell localization of the hEPC2 protein, as well as its co-localization with the SMAD2, were investigated through indirect immunofluorescence assay, confirming the predicted localization of hEPC2 in the cell nucleus using the PSORTII program. However, we were not able to confirm the co-localization of hEPC2 and SMAD2. It is possible that hEPC2 does not bind directly to the DNA, requiring an association with a partner such as a transcription factor. This raises the hypothesis of hEPC2 having a role as a co-factor associated to one of the SMADs and binding to a \"SMAD binding element\" (SBE). To investigate this hypothesis, gene reporter assays were undertaken using a reporter construct containing 12 CAGA sequence repetitions (specific binding sequence of the SMADs 2, 3 and 4) fused to the luciferase gene. However, this assay could not demonstrate that the transcription of the SMAD is dependent on hEPC2. This experiment must be repeated. To confirm the interaction of hEPC2 and SMADs, a pull-down assay will be performed. To this end, the coding region of hEPC2 was cloned into the pET-32A bacterial inducible expression vector. The recombinant protein was already produced, having been induced and purified under denaturing conditions. Despite the dozens of PcG genes that were described in Drosophila, only a few of these genes have been characterized in mammals. Therefore, the description of the hEPC2 and its alternative transcripts is a contribution to better knowledge of the human PcGs. Regarding the hEPC2 and SMADs interaction, it\'s it is noteworthy that this is the first protein described to interact with SMADs of distinct categories. This may be an important indication of a unique role for hEPC2 in the TGF-β1 signaling pathway.
Shah, Supriya A. "Determination of Rx expression in the adult mouse retina and delineation of the Rx mediated gene regulation". Morgantown, W. Va. : [West Virginia University Libraries], 2005. https://eidr.wvu.edu/etd/documentdata.eTD?documentid=4080.
Texto completoTitle from document title page. Document formatted into pages; contains viii, 99 p. : ill. (some col.). Includes abstract. Includes bibliographical references (p. 82-99).
Ali, Muhammad Yousuf. "Characterization of the carbonic anhydrase gene family and other key osmoregulatory genes in Australian freshwater crayfish (genus Cherax)". Thesis, Queensland University of Technology, 2016. https://eprints.qut.edu.au/95059/1/Muhammad%20Yousuf_Ali_Thesis.pdf.
Texto completoTell, Désirée von. "Welander distal myopathy : gene mapping and analysis of candidate genes /". Stockholm, 2004. http://diss.kib.ki.se/2003/91-7349-764-9.
Texto completoGuénette, Suzanne. "Characterization of Brugia pahangi b-tubulin genes and gene products". Thesis, McGill University, 1991. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=70165.
Texto completoCampbell, Lisa Jane. "Gene expression analysis of telomerase related genes in myeloid malignancy". Thesis, Open University, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.578282.
Texto completoSturm, Richard Alan. "Control mechanisms of higher eukaryotic gene transcription--divergent histone genes /". Title page, contents and abstract only, 1985. http://web4.library.adelaide.edu.au/theses/09PH/09phs936.pdf.
Texto completoOliveira, João Augusto Vieira de. "Expressão de genes de arroz homólogos a genes de arabidopsis relacionados à produtividade de grão". Universidade Federal de Goiás, 2015. http://repositorio.bc.ufg.br/tede/handle/tede/6637.
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Evidences indicate that by 2030 an increase in 40% of rice production is necessary so that it can meet the demand of the world population. The aim of this study was to quantify the expression of rice genes homologs to Arabidopsis genes previously related to yield (RUBISCO, AVP1, DA1 and TOR) by RT-qPCR analysis. The genotypes used in the study were the upland rice cultivars BRSMG Curinga and Primavera, and the old variety Douradão, which were evaluated in a yield experiment under two soil fertility levels, in a factorial scheme, in completely randomized design with two replications. Plant tissue samples were collected in vegetative and reproductive stages, which were used for total RNA isolation and subsequent cDNA syntheses. The cDNA was then subjected to RT-qPCR to evaluate the expression of four genes studied. Significant differences were observed in the expression of RUBISCO gene in leaves of upland rice plants in the vegetative stage, where there was a higher expression in high-level fertility in the soil, while in the reproductive stage, there was a higher expression in the low fertility treatment. DA1 that negatively regulates cell proliferation was less expressed in the vegetative stage in the treatment with high level of fertility, suggesting the suppression of this gene. AVP1 was more expressed in the reproductive stage, probably in order to increase the availability of P in a fundamental phase for the formation of the grain. TOR was the most expressed gene in this work, with a greater expression in adequate conditions of fertility, confirming its action under favorable conditions of cultivation. This study indicates that even two species that diverged over 120 million years have conserved productivity related metabolic routes. Thus, genes previously studied and validated in the model species Arabidopsis and that are of interest to economically important crops such as rice, may be the starting point for the development of cultivars with higher performance and better agronomic traits.
Evidências indicam que, até 2030, será necessário um aumento em 40% da produção de arroz para que ele possa atender a demanda da população mundial. O objetivo desse estudo foi quantificar a expressão de genes de arroz homólogos a genes de Arabidopsis anteriormente relacionados à produtividade (RUBISCO, AVP1, DA1 e TOR) por meio da análise de RT-qPCR. Os genótipos usados no estudo foram as cultivares de arroz de sequeiro BRSMG Curinga e Primavera, e a cultivar antiga Douradão, as quais foram avaliadas em um experimento de rendimento sob dois níveis de fertilidade do solo, em esquema fatorial, em delineamento experimental inteiramente casualizado, com duas repetições. Amostras de tecido foliar foram coletadas nas fases vegetativa e reprodutiva, que foram utilizadas para o isolamento de RNA total e posterior síntese de cDNA. O cDNA foi, em seguida, submetido à RT-qPCR para avaliar a expressão dos quatro genes estudados. Foram observadas diferenças significativas na expressão do gene RUBISCO (Ribulose bifosfato Carboxilase/Oxigenase) em folhas de plantas de arroz de terras altas no estádio vegetativo, em que houve uma maior expressão em solo com fertilidade recomendada, enquanto que na fase reprodutiva, houve uma maior expressão no tratamento de baixa fertilidade. DA1 (Receptor de Ubiquitina), que regula negativamente a proliferação celular foi menos expresso no estádio vegetativo, no tratamento com elevado nível de fertilidade, sugerindo a supressão deste gene. AVP1(Arabidopsis Vacuolar Pirofosfatase) foi mais expresso no estádio reprodutivo, provavelmente para aumentar a disponibilidade de P em uma fase fundamental para a formação do grão. TOR (Alvo de rapamicina) foi o gene com maior nível de expressão, principalmente no solo com maior nível de fertilidade, confirmando sua ação em condições favoráveis de cultivo. Esse estudo indica que mesmo duas espécies que divergiram mais de 120 milhões anos, como é o caso de Arabidopsis e arroz, têm conservadas rotas metabólicas relacionadas à produtividade. Assim, os genes previamente estudados e validados na espécie modelo Arabidopsis e que são de interesse para as culturas economicamente importantes, como o arroz, podem ser o ponto de partida para o desenvolvimento de cultivares com maior desempenho e melhores características agronômicas.
Borrelli, Alexander P. "Synthetic Genes for Antimicrobial Peptides". Digital WPI, 2003. https://digitalcommons.wpi.edu/etd-theses/427.
Texto completoWagner, Priscilla Koch. "Uma nova abordagem para identificação da provável origem de genes exclusivos de bactérias". Universidade de São Paulo, 2018. http://www.teses.usp.br/teses/disponiveis/100/100131/tde-24052018-175017/.
Texto completoComparison of genomes, genes or even non-coding nucleotide sequences is an important task in which bioinformatics can be applied, since it allows the application of phylogenetic analyses. Phylogenetic analysis, in its turn, seeks to analyze the evolutionary relation of each species, considering its genetic characteristics. These processes and the techniques that implement them are based on nucleotide sequences sequenced and stores in databases of public genomes. With phylogenetic analysis it is also possible to identify possible origins of a gene. This task has a great importance, because it allows the identification of the origin of pathogenic genes, which may help to combat or prevent deseases. A potencial problem of these sequences is the possibility of having annotation errors (sequences marking as genes). These errors are little explored by researchers nowadays. Another unexplored topic is the phylogenetic analysis of exclusive genes, which are genes thaht manifest in only one species, considering a group of nearby species. The identification of exclusive genes of a species may serve to correctly identify, for example, a desease, in order to allow the use of a more especific and appropriate treatment. The importance of discovering phylogenies of exclusive genes and the difficulty of guaranteeing the consistency of genetic annotations motivated this work, whose objective was to implement tools to interpret data of genetic comparison, identifying annotation errors in exclusive genes and creating strategies to identify the origin of these genes.The origins of exclusive genes explored in this work involve the possibility of the exclusive genes have derived of other gene families of the organism itself, or, the exclusive genes differed a lot from the ancestral genes. Theses hypotheses, with the hypotesis of the existance of annotation errors, were explored in experiments using the developed tools. The experiments aimed to analyse the applicability of the developed strategy. Genomes of bacteria of the genus Xanthomonas were used, which contains a large group of bacteria that cause diseases in plants. The results show that there is a considerable amount of annotation errors on the genomes, proving the hypothesis that the inconsistency in genomic annotations has a great influence on the difficulty in identifying phylogenies (both exclusive and non-exclusive genes). The results also show that much of exclusive genes possibly originated from other gene families of the genome itself. Furthermore, these genes may have sufferedmodifications in relation to the ancestral genes, but still have certain similarities with nucleotide sequences that don\'t encode genes in other more distant species. Finally, the strategy developed proved useful on phylogenetic analysis of the studied bacteria, which is a strong indication that the same approach can be used for similar problems with other species of living beings
Cheung, Kwan-lok. "Analysis of lacZ gene expression patterns of a Hoxb3[lacZ] mouse mutant during early development /". View the Table of Contents & Abstract, 2005. http://sunzi.lib.hku.hk/hkuto/record/B3508571X.
Texto completoMünzner, Ulrike. "Gene fishing in Cataglyphis fortis – Identification of genes inthe desert ant". Thesis, Linköping University, Department of Physics, Chemistry and Biology, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-20455.
Texto completoThe desert ant Cataglyphis fortis lives in the Sahara desert where it is exposed to extreme temperatures up to 70° C. In other words, the organism is considered as a thermophile. Until now the genome remains unknown but the fact that C. fortis provides heat stable proteins makes it very interesting in the field of protein studies and maybe even therapeutical research later on. This thesis focuses on trying to find genes that are expressed in C. fortis. Different genes were chosen and capable primers designed. After fishing for the enzyme GAPDH a fragment was found and sequenced. The sequence showed 31% homology on amino acid level with protein disulfide isomerase (PDI) in Apis mellifera (honey bee) and Drosophila melanogaster (fruitfly). The received sequence can be used to design new primers that match exactly. Gene fishing can also be continued by using the other primers that were designed during this project.
Pearce, Jonathan J. H. "Murine chromobox genes and the maintenance of Hox gene expression patterns". Thesis, University of Cambridge, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.282013.
Texto completoWang, Yun. "Host Modifier Genes Affect Mouse Autoimmunity Induced by the lpr Gene". Kyoto University, 2001. http://hdl.handle.net/2433/150546.
Texto completoSimoni, L. "Gene-trap based identification of stress-activated genes in Arabidopsis thaliana". Doctoral thesis, Università degli Studi di Milano, 2007. http://hdl.handle.net/2434/56604.
Texto completoBasile, Walter. "Orphan Genes Bioinformatics : Identification and properties of de novo created genes". Doctoral thesis, Stockholms universitet, Institutionen för biokemi och biofysik, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-149168.
Texto completoAt the time of the doctoral defense, the following papers were unpublished and had a status as follows: Paper 3: Submitted. Paper 4: Manuscript.
Moheghi, Nasrin. "IRAMS database generation and investigation of HLA genes, KIR genes, S1PR1 gene polymorphism, and IL-17 levels in Iranian Multiple Sclerosis patients". Thesis, St George's, University of London, 2017. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.754071.
Texto completoCosta, Washington Luiz Gomes. "AnÃlise espacial e temporal da expressÃo de genes relacionados ao metabolismo de lipÃdios em sementes de pinhÃo manso (Jatropha curcas L.)". Universidade Federal do CearÃ, 2013. http://www.teses.ufc.br/tde_busca/arquivo.php?codArquivo=9438.
Texto completoO esgotamento das reservas de energia nÃo-renovÃvel, como petrÃleo, carvÃo e gÃs natural, tÃm estimulado a busca por fontes alternativas geradoras de energia. Neste contexto, o pinhÃo manso (Jatropha curcas L.) tem recebido especial atenÃÃo por parte dos pesquisadores, devido à presenÃa de grande quantidade de Ãleo em suas sementes, que pode ser convertida em biodiesel. O objetivo deste trabalho foi investigar o comportamento de genes relacionados ao metabolismo de lipÃdios durante os processos de desenvolvimento e germinaÃÃo da semente de pinhÃo manso. Para quantificar com exatidÃo os nÃveis de expressÃo gÃnica por RT-qPCR foi feita uma seleÃÃo entre nove candidatos a genes de referÃncia. Nossos resultados mostraram que na anÃlise de sementes em desenvolvimento, os genes GAPDH, UCP, ACT11, PP2A2 e CICLOF foram os mais estÃveis. Para as sementes em germinaÃÃo, os genes considerados mais estÃveis foram EF1-α, PP2A2, GAPDH, PUB3 e ACT11. Para validar nossos resultados com genes de referÃncia, foi utilizado o padrÃo de expressÃo do gene que codifica a proteÃna oleosina no qual foi observado que o mesmo foi similar aos observados em artigos cientÃficos pesquisados, indicando que os genes de referÃncia estavam apropriados para normalizaÃÃo dos dados de RT-qPCR. ApÃs obtenÃÃo desses dados, efetuou-se um estudo da expressÃo por RT-qPCR de 20 genes envolvidos com o metabolismo de lipÃdios. Nossos resultados revelaram que os genes oleosina, β-cetoacil-ACP Sintase I e II, tioesterase A e triacilglicerol lipase I, bem como outros genes envolvidos na biossÃntese de lipÃdios, alcanÃaram altos nÃveis de expressÃo no desenvolvimento da semente. Os genes acil-CoA sintetase, tiolase e triacilglicerol lipase II, relacionados com a degradaÃÃo de lipÃdios apresentaram altos nÃveis de transcritos na germinaÃÃo da semente. Os dados obtidos neste trabalho contribuem para o entendimento das vias metabÃlicas estudadas, fornecendo subsÃdios para a produÃÃo, via engenharia genÃtica, de variedades melhoradas do pinhÃo manso.
The depletion of non-renewable energy such as oil, coal and natural gas, has stimulated the search for alternative sources of energy generation. In this context, physic nut (Jatropha curcas L.) has received special attention from researchers due to the presence of large amounts of oil in its seeds that can be converted into biodiesel. The objective of this study was to investigate the behavior of genes related to lipid metabolism during the development and germination of physic nut seeds. To accurately quantify the levels of gene expression by RT-qPCR, a selection of nine candidates for reference genes was performed. Our results showed that the GAPDH, UCP, ACT11, PP2A2 and CICLOF were the most stable genes during the development of the seeds. In germinating seeds, EF1-α, PP2A2, GAPDH, PUB3 and ACT11 were considered the most stable genes. To validate our findings with reference genes, we used the expression profile of the gene encoding the oleosin protein in which that was similar to those observed in the literature evaluated, indicating that they were suitable reference genes for data normalization by RT-qPCR. After obtaining these data, we performed a gene expression study by RT-qPCR of 20 genes involved in lipid metabolism. Our results revealed that the oleosin, β-ketoacyl-ACP Synthase I and II, thioesterase A and triacylglycerol lipase I genes, as well as other genes involved in lipid biosynthesis, achieved high expression levels in developing seeds. Acyl-CoA synthetase, thiolase and triacylglycerol lipase II, genes related to the degradation of lipids, showed high transcript levels in germinating seeds. The data obtained in this study contribute to the understanding of the metabolic pathways studied, providing subsidies for production of improved varieties of physic nut via genetic engineering.
Rice, Kim. "Functional analysis of the HOX11 target genes ALDH1A1 and FHL1". Thesis, Rice, Kim (2004) Functional analysis of the HOX11 target genes ALDH1A1 and FHL1. PhD thesis, Murdoch University, 2004. https://researchrepository.murdoch.edu.au/id/eprint/277/.
Texto completoRice, Kim. "Functional analysis of the HOX11 target genes ALDH1A1 and FHL1 /". Access via Murdoch University Digital Theses Project, 2004. http://wwwlib.murdoch.edu.au/adt/browse/view/adt-MU20051012.93820.
Texto completoSantos, Diogo Filipe Oliveira dos. "Gene-diet interactions on childhood obesity". Bachelor's thesis, [s.n.], 2019. http://hdl.handle.net/10284/8517.
Texto completoObesity is a global epidemy and in children the number of individuals with obesity increased 2,28 times in the last three decades. Obesity comes with a massive amount of complications such as type 2 diabetes, dyslipidemia and insulin resistance. Obesity is a multifactorial disease and there many risk factors interacting in its development, genetic, behavioral and environmental factors. This paper aims to understand the genetic factors behind this disease and the interactions between the genes and diet that prompts childhood obesity. For the purpose of this paper the literature was searched in English language in the PubMed Central® search engine, totaling 110 papers. During the last decade, research has tried to understand the gene(s) responsible for the predisposition for childhood obesity, so many studies were conducted such as genome-wide association studies (GWAS). Childhood obesity appear to result from the presence of many risk gene variants, and their response to obesogenic environments. There is evidence that genes like FTO, MC4R, POMC, LEP and LEP receptor have an influence in weight gain and in the development of related complications since early ages. Diet is one of the most important environmental factors believed to contribute to obesity development. Currently, there are two approaches trying to understand interactions between genes and diet, nutrigenetics and nutrigenomics. Both are based in the premise that nutrients/diet components can influence the gene expression process and affect different metabolic pathways that finally will origin the individual’s phenotype. Most of the studies accomplished are related to fatty acids metabolism, so to further understand other metabolic pathways more studies are needed. FTO, APOA2 and NPC1 genes are some of the genes that already have some evidence supporting their interaction with dietary fat intake in weight gain, including in children for whom less evidence exists. Genome-wide association studies have increased the knowledge in this area, but they have some limitations, which means that more studies and with different approaches are needed to further understand the relation between genes and environmental factors in obesity. A more personalized diet (under prior knowledge of obesity-related polymorphisms) is currently under discussion in the scientific arena.
A obesidade é ume epidemia global; o número de crianças com obesidade aumentou cerca 2.28 vezes nas últimas três décadas. A obesidade tem associadas inúmeras complicações como diabetes tipo 2, dislipidemia e resistência à insulina. A obesidade é uma doença multifatorial que possui vários fatores de risco que interagem no seu desenvolvimento, como genéticos, comportamentais e ambientais. Este artigo ambiciona perceber os fatores genéticos inerentes a esta doença bem como as interações entre os genes e a alimentação que potenciam a obesidade infantil. Para a realização deste artigo procedeu-se a uma revisão bibliográfica da literatura em língua Inglesa no motor de busca PubMed Central®, totalizando 110 artigos. Durante a última década, a investigação tem tentado perceber quais os genes responsáveis por uma maior predisposição à obesidade infantil. Nesse sentido vários estudos foram conduzidos, como por exemplo os genome-wide association studies (GWAS). A obesidade infantil parece resultar da presença de genes de risco, bem como da sua resposta face a ambientes obesogénicos. Existe já evidência da influência de genes como o FTO, MC4R, POMC, LEP e recetor de LEP no aumento de peso e no desenvolvimento de complicações associadas desde idades precoces. A alimentação é um dos fatores ambientais mais importantes para o desenvolvimento da obesidade. Atualmente, existem duas abordagens para perceber as interações entre os genes e a alimentação, a nutrigenética e a nutrigenómica. Ambas se baseiam na premissa de que os nutrientes/componentes da alimentação podem influenciar a expressão génica e afetar diferentes vias metabólicas, que finalmente irão originar o fenótipo do indivíduo. A maioria dos estudos conduzidos até hoje estão relacionados com o metabolismo dos ácidos gordos, pelo que para melhor compreender outras vias metabólicas são necessários mais estudos. A interação com a ingestão de gordura no aumento de peso já está evidenciada para genes como o FTO, APOA2 e NPC1, incluindo estudos realizados em crianças para as quais a evidência é mais escassa. Os genome-wide association studies permitiram o aumento de conhecimento nesta área, mas apresentam algumas limitações, o que significa que são necessários mais estudos e com diferentes abordagens para melhor entender a relação entre os genes e os fatores ambientais no desenvolvimento da obesidade. Uma dieta mais personalizada (com prévio conhecimento de polimorfismos relacionados com a obesidade) está atualmente sob discussão nos fóruns científicos.
N/A
Zhang, Yunzhe. "Role of linker histone H1 in epigenetic regulation of pluripotency genes and Hox genes". Diss., Georgia Institute of Technology, 2014. http://hdl.handle.net/1853/54829.
Texto completoShoja, Valia. "A Broad Analysis of Tandemly Arrayed Genes in the Genomes of Human, Mouse, and Rat". Thesis, Virginia Tech, 2006. http://hdl.handle.net/10919/35800.
Texto completoMaster of Science
Santos, Renato Oliveira dos. "Investigando o papel de genes candidatos na epilepsia do lobo temporal mesi = genes PTPRM e IL1B = Investigating candidates genes in mesial temporal lobe epilepsy : PTPRM and IL1B genes". [s.n.], 2015. http://repositorio.unicamp.br/jspui/handle/REPOSIP/312709.
Texto completoTese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas
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Resumo: As epilepsias formam um grupo de doenças neurológicas crônicas caracterizadas por crises epilépticas, as quais podem ser definidas como um distúrbio intermitente do sistema nervoso causado por descarga elétrica anormal, súbita e sincronizada dos neurônios cerebrais. A epilepsia de lobo temporal (ELT) é a mais frequente, representando aproximadamente 50% dos casos em adultos e tem como manifestação típica, a crise parcial complexa. Além disso, é frequentemente refratária ao tratamento medicamentoso. Os principais sintomas gerados pela ELT são predominantemente pelo acometimento das estruturas mediais do lobo temporal, sendo a ELT mesial (ELTM), a forma mais comum de ELT. Atualmente é ainda controversa a participação de fatores genéticos contribuindo na etiologia das epilepsias, principalmente da ELTM, que não teve até hoje nenhum gene inequivocamente associado a sua predisposição. O objetivo deste trabalho foi investigar o papel de dois genes candidatos: o PTPRM e o IL1B na predisposição à ELTM. Para tanto utilizamos as seguintes modalidades de estudo em pacientes com ELTM (i) estudo de associação genética através da genotipagem de polimorfismos de nucleotídeo único (SNPs) localizados nos referidos genes candidatos (esta etapa do estudo foi realizada durante o mestrado); (ii) quantificação dos transcritos de ambos os genes, por PCR em tempo real em tecido das estruturas mediais do lobo temporal (principalmente hipocampo) que foi obtido através da realização de cirurgia para tratamento das crises refratárias. (iii) Para o PTPRM, foi também realizada a localização do transcrito pela técnica de hibridação "in situ" em tecido hipocampal de pacientes e de controle. Além disso, como existem evidências do envolvimento do PTPRM em etapas importantes do desenvolvimento cerebral, e pouco se conhece da função específica desse gene no cérebro realizamos (iv) a quantificação do transcrito de PTPRM durante o desenvolvimento em cérebro de camundongos. (v) Finalmente, com o objetivo específico de avaliar se o aumento de expressão de IL1B no tecido hipocampal se refletia também na circulação realizamos a quantificação do transcrito e proteica do IL1B no plasma de pacientes com ELTM. Nossos resultados revelaram associação genética entre SNPs localizados em ambos os genes investigados e o fenótipo estudado. No entanto, em nenhum dos estudos uma variante funcional pode ser identificada. A quantificação dos transcritos em tecido hipocampal dos pacientes com ELTM indicou que ambos os genes PTPRM e IL1B estão hiper-regulados em pacientes quando comparados ao tecido controle. Não identificamos variação significativa na expressão do transcrito de PTPRM no cérebro de camundongos nas diferentes etapas de desenvolvimento. Não identificamos variação significativa na quantificação do transcrito e proteica de IL1B no plasma dos pacientes com ELTM quando comparados aos controles. Em conclusão, nossos resultados dos estudos de associação indicam um papel de PTPRM e de IL1B na predisposição à ELTM, porém não fomos capazes de encontrar uma variante funcional associada ao fenótipo. Corroborando o papel de ambos os genes nosso estudo de expressão gênica no tecido acometido indicou um aumento de expressão de ambos os genes. No entanto, o aumento de expressão de IL-1beta no tecido hipocampal não se traduziu pelo aumento no plasma dos pacientes. Finalmente, nosso estudo do perfil de expressão de PTPRM durante o desenvolvimento cerebral não aponta para um papel desse gene em etapas específicas do desenvolvimento
Abstract: The epilepsies are a group of chronic neurological disorders characterized by seizures, which can be defined as an intermittent disorder caused by an abnormal and sudden electrical discharge of neurons in the brain. Temporal lobe epilepsy (TLE) is the most frequent form, representing approximately 50% of cases in adults, and it is often refractory to drug treatment. The main symptoms in TLE are generated by the involvement of the medial temporal lobe structures, characterizing mesial TLE (MTLE). The contribution of genetic factor to MTLE it is still controversial and to date, no gene has been unequivocally associated with the predisposition to MTLE. Therefore, the aim of this study was to investigate the role of two candidate genes: PTPRM and IL1B in the predisposition to MTLE. To achieve this we use the following type study modalities in patients with MTLE (i) genetic association study by genotyping of single nucleotide polymorphisms (SNPs) located in these two candidate genes; (ii) quantification of the transcripts of both genes by real-time PCR in hippocampal tissue obtained from epilepsy surgery for the treatment of refractory seizures. (iii) For PTPRM we also performed in situ hybridization experiments in order to localize the transcript in hippocampal tissue from patients and controls. Furthermore, since there is evidence that PTPRM could be involved in key stages of brain development and little is known about the specific role of this gene in the brain, we performed (iv) quantification of its transcript during development in mouse brain. (v) Finally, with the specific objective of assessing whether the increase of IL1B expression in hippocampal tissue was also seen outside the central nervous system we quantified IL1B transcript and protein in plasma of patients with MTLE. Our results revealed genetic association between SNPs located in both genes and the phenotype. The quantification of transcripts in hippocampal tissue of patients with MTLE indicated that both genes are hyper-regulated when compared to control tissue. We did not find any significant variation in transcript expression of PTPRM in mouse brain during developed. In addition, no difference in transcript expression and protein levels of IL1B was observed in plasma of patients with MTLE. In conclusion, our results indicate an involvement of PTPRM and IL1B in the predisposition to MTLE; however, we are unable to find a functional variant associated with the phenotype. Corroborating the role of both genes in MTLE gene expression in affected tissue (hippocampus) indicated an up-regulation of both genes. However, the increase in IL1B expression in hippocampal tissue was not reflected by an increase of transcript or protein in plasma of patients with MTLE. Finally, our expression profile of PTPRM during brain development does not point to a role for this gene in specific stages of development
Doutorado
Fisiopatologia Médica
Doutora em Ciências
Patrick, Peter Stephen. "The development of reporter genes for in vivo imaging". Thesis, University of Cambridge, 2014. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.708002.
Texto completoChan, Ping-kei. "The study of the regulatory elements of the human [beta]-globin gene". Click to view the E-thesis via HKUTO, 2005. http://sunzi.lib.hku.hk/hkuto/record/B31999062.
Texto completoTufarelli, Cristina. "Activation and silencing of α globin expression". Thesis, University of Oxford, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.365741.
Texto completo歐惠連 y Wai-lin Au. "Molecular characterization of chicken prolactin gene". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2002. http://hub.hku.hk/bib/B31227119.
Texto completoChan, Ping-kei y 陳炳基. "The study of the regulatory elements of the human {221}-globin gene". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B31999062.
Texto completoCheung, Kwan-lok y 張君樂. "Analysis of lacZ gene expression patterns of a Hoxb3[lacZ] mouse mutant during early development". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B45010596.
Texto completoYool, Donald Andrew. "Phenotypic analysis of the Plp-deficient mouse". Thesis, University of Glasgow, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.312690.
Texto completoMohammed, Javid P. "Isolation of Tripsacum dactyloides genes using putative apomixis genes from Pennisetum ciliare". Virtual Press, 2008. http://liblink.bsu.edu/uhtbin/catkey/1409586.
Texto completoDepartment of Biology
BAZZI, GAIA. "GENES ON THE MOVE: CANDIDATE GENES AND LONG-DISTANCE MIGRATION IN BIRDS". Doctoral thesis, Università degli Studi di Milano, 2016. http://hdl.handle.net/2434/421359.
Texto completoBanho, Cecília Ártico [UNESP]. "Caracterização filogenética de percevejos terrestres das famílias Coreidae e Pentatomidae (Heteroptera: Pentatomomorpha) por meio de marcadores moleculares". Universidade Estadual Paulista (UNESP), 2016. http://hdl.handle.net/11449/136193.
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Pentatomomorpha é composta por cerca de 14.000 espécies, distribuídas em seis superfamílias, entre as quais estão inclusas Pentatomoidea e Coreoidea. Pentatomoidea possui 7.000 espécies distribuídas em 15 famílias, das quais Pentatomidae é a maior, com 4.500 espécies e 760 gêneros, estando representados no Estado de São Paulo 163 espécies. A superfamília Coreoidea é composta por cinco famílias, contudo apenas Coreidae, Rophalidae e Alydidae estão presentes no Neotrópico. A família Coreidae possui 1.884 espécies, divididas em quatro subfamílias, das quais Coreinae tem oito tribos com representantes no Brasil. Embora as famílias Pentatomidae e Coreidae apresentem um significante papel como pragas de culturas agrícolas, são escassas análises cladísticas envolvendo esses táxons, o que resulta na ausência de uma única hipótese de classificação, tornando pesquisas com abordagens de sistemática filogenética necessárias para essas famílias. Portanto, o presente estudo buscou caracterizar as relações filogenéticas das famílias Pentatomidae e suas subfamílias por meio dos genes 16S, ND5 (mitocondriais), 18S e 28S (nucleares) e da família Coreidae e sua respectiva subfamília Coreinae por meio dos genes 18S e 28S. Objetivou-se também, confirmar a classificação atual das tribos e subfamílias das espécies de Pentatomidae e Coreidae, que é embasada em caracteres morfológicos, assim como avaliar a variabilidade genética das sequências correspondentes aos genes mitocondriais e nucleares analisados. A partir dos resultados foi observado que os genes nucleares são conservados ao passo que os mitocondriais são altamente variáveis e com tendência as bases AT. Este estudo evidenciou que os genes nucleares 18S e 28S não são ideais para resoluções filogenéticas em nível de famílias, subfamílias e tribos de Coreidae e Pentatomidae, visto que os suportes dos ramos não permitem que haja confiabilidade nas análises. Além disso, alguns grupos que são considerados monofiléticos, com base em caracteres morfológicos, como as subfamílias de Pentatomidae, não tiveram sua monofilia resgatada. Contudo ao considerar as topologias obtidas com os genes nucleares aliados aos mitocondriais, para a família Pentatomidae, obteve-se alto suporte nos ramos, e, portanto, grande confiabilidade nas análises, resgatando a monofilia da maioria das tribos estudadas. Dessa forma, estudos utilizando diferentes marcadores moleculares, em especial, genes mitocondriais, são necessários, pois podem auxiliar no esclarecimento e suporte da classificação atual das relações intrafamiliares de Pentatomidae e Coreidae que permanecem pendentes.
Pentatomomorpha consists about 14.000 species distributed in six superfamilies, to which Pentatomoidea and Coreoidea are included. Pentatomidae has 7000 species in 15 families, of which Pentatomidae is the largest, with 4500 species and 760 genera, although in the state of São Paulo only 163 species are present. The Coreoidae superfamily consists of five families, however only Coreidae, Rophalidae and Alydidae are present in the Neotropics. The Coreidae family has 1884 species, divided into four subfamilies, of which Coreinae has eight tribes with representatives in Brazil. Although Pentatomidae and Coreidae families have a significant role as pests of agricultural crops, the cladistic analysis involving these taxa are scarce, which results in the absence of a single hypothesis classification, making research on phylogenetic systematic approaches necessary for these families. Therefore, this study aimed to characterize the phylogenetic relationships of Pentatomidae families and subfamilies through the 16S, ND5, 18S and 28S genes and Coreidae family and their respective Coreinae subfamily through the 18S and 28S genes. We aimed also to confirm the current classification of tribes and subfamilies of Pentatomidae and Coreidae, which is grounded on morphological characters, as well as to evaluate the genetic variability of the sequences corresponding to the mitochondrial and nuclear genes analyzed. From the results it was observed that the nuclear genes are conserved while the mitochondrial are highly variable and tend to AT base. Our study showed that nuclear genes 18S and 28S are not ideal for phylogenetic resolution at the level of families, subfamilies and tribes of Coreidae and Pentatomidae, because the supports of the branches do not allow that there is confiability in the analysis. Furthermore, groups considered monophyletic, based on morphological characteristics, such as Pentatomidae subfamilies, have not had their monophyly rescued. But when we consider the topologies obtained with nuclear genes combined with mitochondrial genes for the Pentatomidae family, we had high support in the branches, and thus high confiability in the analysis, rescuing the monophyly of most of the studied tribes. Thus, studies using different molecular markers, in particular mitochondrial genes are needed, because they can help in understanding and support of the current classification of intra-family relations Pentatomidae and Coreidae that remain pending.