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Molecular characterization of large deletions in beta globin gene cluster using multiplex ligation-dependent probe amplificationSo, Chiu-yin. January 2008 (has links)
Thesis (M. Med. Sc.)--University of Hong Kong, 2008. / Includes bibliographical references (p. 28-29)
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The role of Slit2 in kidney development /Piper, Michael John. January 2003 (has links) (PDF)
Thesis (Ph.D.) - University of Queensland, 2003. / Includes bibliography.
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Dynamics and mechanism of immunoglobulin gene diversification /Ordinario, Ellen. January 2007 (has links)
Thesis (Ph. D.)--University of Washington, 2007. / Includes bibliographical references (leaves 108-125).
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Caractérisation in vitro du dialogue embryo-maternel chez les ruminants / Embry-maternal communication in ruminant : a transcriptomic approachPanneau, Barbara 09 July 2009 (has links)
Chez les mammifères, l’oviducte est essentiel à la fonction de reproduction. Les interactions cellulaires et moléculaires entre le jeune embryon et l’oviducte permettent d’ajuster le microenvironnement tubaire à l’évolution de ses besoins spécifiques. L’objectif de cette thèse est de caractériser ce dialogue embryo-maternel chez les ruminants en condition in vitro. L’étude des modes d’action des Boec sur le développement embryonnaire précoce bovin par l’étude de leur transcriptome a montré que celles-ci avaient un impact positif sur les paramètres quantitatifs et qualitatifs du développement embryonnaire bovin. De plus, le système de co-culture mis au point a indiqué que la présence des Boec augmentait aussi les paramètres quantitatifs de survie embryonnaire caprins. Enfin, la recherche d’autres gènes candidats potentiellement impliqués dans le développement embryonnaire préimplantatoire par hybridation de microarrays a permis de mettre en évidence de nouveaux gènes impliqués dans les 3 grands modes d’action des Boec. / In mammals, oviducte play an essential role in the reproductive process. Cellular and molecular interactions between the zygoteand and the oviducte lead to adjust the tubal microenvironment to the evolution of the embryo needing. The main objective of this thesis work was to characterize the embryo-maternal dialogue actors in ruminants in in vitro conditions. First, characterization of the way of share of Bovine oviduct epithelial cells (Boec) on bovine early embryo development by a trsncriptomic approach revealed that these cells had a positive impact on quantitative and qualitative parameters of bovine embryonic development. Moreover, this coculture system indicated that Boec also enhanced quantitave parameters of goat embryonic survival. Finally, the search for other genes potentially implicated in early embryonic development by microarrays hybridization described a new set of genes implicated in the 3 main ways of action of Boec, thus contributing to the validation of our work hypothesis.
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Caracterização filogenética de percevejos terrestres das famílias Coreidae e Pentatomidae (Heteroptera: Pentatomomorpha) por meio de marcadores moleculares / Phylogenetic characterization of terrestrial bugs of Coreidae and Pentatomidae families (Heteroptera: Pentatomomorpha) by markers molecularBanho, Cecília Ártico [UNESP] 02 March 2016 (has links)
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Previous issue date: 2016-03-02 / 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.
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Analise de polimorfismo no gene MSX1 em individuos com agenesia dentalScarel, Raquel Mantuaneli 26 July 2018 (has links)
Orientador: Sergio Roberto Peres Line / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Odontologia de Piracicaba / Made available in DSpace on 2018-07-26T02:31:58Z (GMT). No. of bitstreams: 1
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Previous issue date: 2000 / Resumo: A agenesia dental ou hipodontia é a ausência congênita de um a seis dentes permanentes e/ou decíduos. Esta é uma das mais freqüentes alterações da dentição humana, que embora não represente um problema de saúde pública, pode causar disfunções mastigatória e da fala, além de problemas estéticos. Uma mutação única na região homeobox do gene MSX1, foi associada à hipodontia de segundos pré-molares e terceiros molares em humanos. Contudo, outro estudo excluiu esse gene como responsável pela agenesia de dentes incisivos e pré-molares. O objetivo deste trabalho foi investigar a presença de mutações/polimorfismos no segundo exon do gene MSX1 (que contém a região homeobox) e correlacioná-las com a agenesia dental. Através do DNA obtido de células epiteliais (em processo de descamação) da mucosa bucal de 20 indivíduos com diferentes padrões de hipodontia, o segundo exon do gene MSX1 foi amplificado pela técnica de PCR. Os produtos de PCR purificados foram submetidos à técnica de seqüenciamento automático e não revelaram alterações na região do gene estudado. Esse resultado indica que a inativação do gene MSX1 em humanos deve ter um efeito altamente seletivo na dentição, e outros genes devem estar envolvidos na etiologia da hipodontia / Abstract: Tooth agenesis or hypodontia is the congenital absence of one or a few deciduous and/or permanent teeth. This is one of the most frequent alterations of the human dentition, that although does not represent a public health problem, may cause both speech and masticatory dysfunction as well as esthetic problems. A missense mutation in the homeobox region of the MSX1 gene was associated with hypodontia of second premolars and third molars in humans. However, another study excluded this gene as causative loci for hypodontia of incisors and premolars. The aim of this work was to investigate the presence of polymorphisms/mutations in the second exon of the MSX1 gene (that contains the homeobox) and to establish a correlationship with tooth agenesis. Through the DNA obtained from epithelial cells of the buccal mucosa of 20 individuals with different patterns of hypodontia, the second exon of MSX1 gene was amplified by PCR technique. The purified PCR products were submited to automatic sequencing and did not reveal any alterations in that region of the gene studied. This results indicate that inactivation of MSX1 gene in humans must have a highly selective effect on dentition, and other genes must be involved in the etiology of hypodontia in humans / Mestrado / Mestre em Biologia e Patologia Buco-Dental
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Functional Analysis Of AtCAP Genes In Arabidopsis ThalianaMorakhia Anand, R 04 1900 (has links) (PDF)
No description available.
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A core signaling component of the notch network + a molecular interaction database accessible through an online VLSIC-like interfaceBarsi, Julius Christopher, January 1900 (has links) (PDF)
Thesis (Ph. D.)--University of Texas at Austin, 2006. / Vita. Includes bibliographical references.
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Molecular cloning and characterization of important stress and redox regulatory genes from Hydra vulgarisDash, Bhagirathi 25 April 2007 (has links)
In this research, important stress and redox regulatory genes present in
Hydra vulgaris were isolated and characterized to facilitate our understanding of
the evolution and mechanisms of stress response. H. vulgaris heat shock protein
70 (HvHSP70), extracellular copper zinc superoxide dismutase (HvECCuZnSOD),
manganese superoxide dismutase (HvMnSOD), phospholipid
peroxidase glutathione peroxidase (HvPHGPx) and monofunctional catalase
(HvCatalase) were cloned and characterized with regard to stress response,
phylogeny and molecular structure.
The HSP70 gene isolated from H. vulgaris encodes a polypeptide of 650
amino acids (Mw=710,037) and is interrupted by three intron sequences. The 5'
non-coding region of the HvHSP70 possessed the canonical heat shock
elements. Phylogenetically HvHSP70 formed a distinct lineage. A molecular
model generated for the N-terminal fragment of the HvHSP70 displayed the heat
shock protein fold and domains of phosphotransferases. The EC-CuZnSOD cDNA isolated from H. vulgaris encodes a protein of
189 amino acids (Mw=20959.73); the first 19 amino acids constitute the
presumed signal peptide. Phylogenetically HvEC-CuZnSOD is grouped with ECCuZnSODs
from several organisms. A molecular model generated for the
HvEC-CuZnSOD displayed the CuZnSOD (beta)-barrel fold.
The MnSOD cDNA isolated from H. vulgaris encodes a protein of 219
amino acids (Mw=24348.75); the first 21 amino acids constitute the presumed
mitochondria-targeting signal peptide. Phylogenetically HvMnSOD is clustered
with mollusk and crustacean MnSODs. A molecular model generated for the
HvMnSOD displayed the N-terminal long alpha antiparallel hairpin and the Cterminal
mixed alpha/beta fold characteristic of MnSODs.
The PHGPx gene isolated from H. vulgaris encodes a polypeptide of 168
amino acids (Mw=18746.51) including a TGA-encoded selenocysteine at residue
44 and lacks any intron. Phylogenetically HvPHGPx is grouped with PHGPxs
from several organisms. A molecular model generated for the HvPHGPx
displayed the thioredoxin fold.
The 3'-end of a cDNA sequence encoding for 168 amino acids of the Cterminal
end of a catalase was isolated from H. vulgaris. Phylogenetically
HvCatalase is grouped with heme-containing monofunctional catalases.
Hydrae exposed to thermal, starvation, oxidative and metal stress
responded by regulating respective mRNA transcriptions suggesting that these genes are involved in stress and (anti)oxidative processes and may have
potential as molecular biomarkers for assessing aquatic environment quality.
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Rx plays multiple roles in eye developmentVoronina, Vera A. January 2003 (has links)
Thesis (Ph. D.)--West Virginia University, 2003. / Title from document title page. Document formatted into pages; contains viii, 123 p. : ill. (some col.). Includes abstract. Includes bibliographical references (p. 94-123).
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