52 resultados para Terminal hydrolase-L1 gene
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Ciências biomédicas
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Dissertação apresentada para a obtenção do Grau de Mestre em Genética Molecular e Biomedicina, pela Universidade Nova de Lisboa, Faculdade de Ciências e Tecnologia
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A surdez é a deficiência sensorial mais comum na população humana, afetando o desenvolvimento social do indivíduo afetado por esta patologia. Estima-se que 50% dos casos de deficiência auditiva podem ser evitáveis. Cerca de 1/1000 recém-nascidos apresentam surdez e 1/3 da população acima dos 65 anos é também afetada. No presente estudo, foram analisadas 19 famílias diferentes. Analisou-se ainda 399 amostras aleatórias de recém-nascidos provenientes das várias regiões de Portugal. Mutações no gene GJB2, que codifica para a Cx26, são a principal causa de surdez hereditária não sindrómica, como tal, foi analisado nos dois tipos de população em estudo, tal como o gene GJB6, que codifica para a Cx30. Nas famílias analisadas foram encontradas as mutações c.35delG, p.Met34Thr e p.R127H, no gene GJB2, as quais se contam entre as mutações mais comuns na população portuguesa. Na população aleatória foram encontradas as mutações c.35delG. p.Met34Thr e K224Q, assim como o polimorfismo F83L. Foram caracterizadas funcionalmente três mutações da Cx26 – a p.Leu213X, p.Gly160Ser e p.Gly160Cys. Verificou-se que as proteínas contendo a mutação p.Leu213X foram observadas principalmente no citoplasma, o que sugere que elas são aí retidas. O défice no seu tráfego para a membrana poderá estar relacionado com o facto de esta mutação originar um codão STOP no domínio C-terminal da proteína. As proteínas que continham a mutação p.Gly160Ser e a p.Gly160Cys são transportadas até à membrana plasmática, tal como a Cx26 selvagem. No entanto, a permeabilidade dos canais intercelulares compostos por Cx26 apresentando estas mutações não foi investigada. Este estudo contribui para o aprofundamento do conhecimento sobre a surdez hereditária e o espectro de mutações no locus DFNB1. Permitiu também a primeira caracterização funcional de três mutações da Cx26. Os estudos funcionais têm em vista a possível aplicação de terapias destinadas à recuperação da função nativa da Cx26.
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A synthetic essay about portuguese Late Cretaceous (Upper Campanian-Maastrichtian) and Paleogene is presented. This does include most of the so far known data, a critical approach to the problems of such formations, and to previous works on them. Our viewpoints (party original) are exposed in a shorter text in French where most of the discussion was suppressed (see reference in Resumo).
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The synthetic study of the uppermost Cretaceous of the Beira Litoral (fauna, flora) confirms its upper Campanian-Maastrichtian age. It shows the presence of a tropical to subtropical climate in an area constituted by a low coastal plain only occasionally linked to the sea, saturated with fresh water and possessing accordingly, a predominantely freshwater fauna (Viso, Aveiro); this plain changed towards the interior into a drier more forested zone with a more abundant terrestrial fauna which includes mammals (Taveiro). A thorough study of the chelonian Rosasia, abundant on the coastal plain, was made possible thanks to the discovery of a skull: it demonstrates that the genus belongs to the family Bothremydidae, revalided here. The composition of this family is presented, its phylogenetic and paleobiogeographic relation with the other pleurodires are analyzed, and its diagnosis established. The family is constituted of three groups; Rosasia belongs to one of these, the Bothremys group.
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The reef levels of the gulf of Skoura belong to the reef formation of the Upper Miocene of the South-Rifan straits. A detailed analysis of the vertical distribution of various forms of colonies has led to the establishment of precise coral morphologies zonation. This palaeoecological approach leads us to distinguish between two environments in the Skoura gulf, probably corresponding to two reef episodes. The palaeogeographical implications (relationships between the Atlantic ocean and the Mediterranean sea) will be pointed out.
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Dissertação apresentada na Faculdade de Ciências e Tecnologia da Universidade Nova de Lisboa para a obtenção do grau de Mestre em Engenharia do Ambiente, perfil Gestão e Sistemas Ambientais
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Journal of Bacteriology (Junho 2008) 4272-4280
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The synthetic study of the uppermost Cretaceous of the Beira Litoral (fauna, floral confirms its upper Campanian-Maastrichtian age. It shows the presence of a tropical to subtropical climate in an area constituted by a low coastal plain only occasionally linked to the sea, saturared with fresh water and possessing accordingly, a predominantely freshwater fauna (Viso, Aveiro); this plain changed towards the interior into a drier more forested zone with a more abundant terrestrial fauna which includes mammals (Taveiro). A thorough study of the chelonian Rosasia, abundant on the coastal plain, was made possible thanks to the discovery of a skull: it demonstrates that the genus belongs to the family Bothremydidae, revalided here. The composition of this family is presented, its phylogenetic and paleobiogeographic relation with the other pleurodires are analyzed, and its diagnosis established. The family is constituted of three groups; Rosasia belongs to one of rhese, the Bothremys group.
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The reef levels of the gulf of skoura belong to the reef formation of the Upper Miocene of the South-Rifan straits. A detailed analysis of the vertical distribution of various forms of colonies has led to the establishment of precise coral morphologies zonation. This palaeoecological approach leads us to distinguish between two environments in the Skoura gulf, probably corresponding to two reef episodes. The palaeogeographical implications (relationships between the Atlantic ocean and the Mediterranean sea) will be pointed out.
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A rich uppermost Miocene selachian fauna from the Alvalade Basin (represented by more than 10.000 teeth) is accounted for. It is the most modern miocene fauna of neritic habit under warm-temperate to subtropical conditions, known in the european Miocene.
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An Upper Miocene important sedimentary break can be accurately recognised in the Portuguese basins and is reflected by a drastic palaeogeographic change in relation to a large-scale tectonic event of probable uppermost Vallesian-Turolian (9,5 Ma; middle Tortonian) age. The characterisation of the sedimentary record of this tectonic event, as well as its relations with interpreted active faults is made for different situations: Douro (NW border), Mondego, Lower-Tagus and Sado Tertiary basins. The sedimentary record, considered upper Tortonian-Messinian ? (uppermost Vallesian-Turolian ?) is interpreted mainly as endorheic alluvial fans (internal drainage), developed along active NNE-SSW indent-linked strike-slip faults and NE-SW reverse faults. At NE Portugal, proximal fluvial systems of an endorheic hydrographic network drained eastwards to the Spanish Duero interior Basin. The main evidences of the betic compression clímax in Portugal mainland are presented; the interpreted active tectonic structures are in accordance with an intense NNW-SSE crustal shortening, but some regional differences are also documented.
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Dissertação apresentada para obtenção do Grau de Doutor em Biologia Especialidade Biologia Molecular pela Universidade Nova de Lisboa, Faculdade de Ciências e Tecnologia. A presente dissertação foi preparada no Departamento de Bacteriologia do Laboratório Nacional de Investigação Veterinária
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Dissertação de Mestrado em Engenharia Informática
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Dissertation submitted to obtain a Ph.D. (Doutoramento) degree in Biology at the Instituto de Tecnologia Química e Biológica da Universidade Nova de Lisboa