31 resultados para Variant in site acceptor splicing consensus


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Pós-graduação em Linguística e Língua Portuguesa - FCLAR

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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O ensaio de penetração do cone elétrico e do piezocone pertence a um grupo de ensaios de campo, cuja utilização vem sendo cada vez mais difundida. Tanto o avanço da eletrônica como a rápida evolução da informática têm proporcionado equipamentos mais apropriados, menores, mais robustos e mais econômicos, permitindo a incorporação de diversos sensores a essa ferramenta de investigação. Isto contribuiu para que esse ensaio se consagrasse para a descrição contínua do perfil geotécnico, a definição do nível de água e para estimativa de parâmetros mecânicos do solo. Neste artigo faz-se uma breve apresentação do piezocone e do minicone elétrico: o primeiro vem sendo utilizado nos últimos anos, especialmente em geotecnia ambiental, e o segundo, na investigação da infra-estrutura de transportes. Apresentam-se e discutem-se exemplos de emprego do piezocone para identificação de regiões do maciço contaminadas e do minicone para detectar a superfície de ruptura de uma seção de um talude de aterro, para avaliar sua estabilidade através de retroanálises. Concluise o trabalho fazendo-se algumas considerações sobre a utilização dessa tecnologia moderna e recente em solos tropicais que ocorrem no Brasil.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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This paper attempts to quantify the occurrences of verb agreement, as well as evaluative repercussions on a sample of one hundred and eight essays compiled by candidates entering the São Paulo State University- UNESP in 2006 through an annual entrance exam conducted by the Foundation and applied for Vestibular the Unesp - VUNESP in November 2005. Our reflections are observing about the possible relationships between the performances obtained in newsrooms observed (high, medium and low) and precepts found in the rules established by normative grammars. Our study is based on theoretical and methodological framework of variationist sociolinguistics and search through the quantification of data, discuss the factors that influence verb agreement in the corpus analyzed. Our results show not only a high index of cases of verbal agreement (standard variant) in the three types of essays analyzed, as well as cases of overcorrection that may be explained by the misapplication of the rules of agreement

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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In this paper, the performance of Brazilian foreign policy in South America during the governments of Lula da Silva (2003-2010) and Rousseff (2011-2014) is discussed. It is showed that this activity has expanded in areas of greater consensus in the internal and external contexts. Thus, although with contradictions, initiatives to implement the infrastructure integration of transport, communications and energy into a political project, expansion of the role of the BNDES in the region and improvement of regional technical cooperation have been increasing.

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Pós-graduação em Biotecnologia - IQ

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Canavan disease, an inherited leukodystrophy, is caused by mutations in the aspartoacylase (ASPA) gene. It is most common among children of Ashkenazi Jewish descent but has been diagnosed in many diverse ethnic groups. Two mutations comprise the majority of mutant alleles in Jewish patients, while mutations in the ASPA gene among non-Jewish patients are different and more diverse. In the present study, the ASPA gene was analysed in 22 unrelated non-Jewish patients with Canavan disease, and 24 different mutations were found. of these,14 are novel, including five missense mutations (E24G, D68A, D249V, C152W, H244R), two nonsense mutations (Q184X, E214X), three deletions (923delT, 33del13, 244delA), one insertion mutation (698insC), two sequence variations in one allele ([10T>G; 11insG]), an elimination of the stop codon (941A>G, TAG-->TGG, X314W), and one splice acceptor site mutation (IVS1 - 2A>T). The E24G mutation resulted in substitution of an invariable amino acid residue (Glu) in the first esterase catalytic domain consensus sequence. The IVS1 - 2A>T mutation caused the retention of 40 nucleotides of intron 1 upstream of exon 2. The results of transient expression of the mutant ASPA cDNA containing these mutations in COS-7 cells and assays for ASPA activity of patient fibroblasts indicated that these mutations were responsible for the enzyme deficiency. In addition, patients with the novel D249V mutation manifested clinically at birth and died early. Also, patients with certain other novel mutations, including C152W, E214X, X314W, and frameshift mutations in both alleles, developed clinical manifestations at an earlier age than in classical Canavan disease.

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Room-temperature photoluminescence (PL) was observed in undoped and 2 mol% Cr-, Al- and Y-doped amorphous SrTiO3 thin films. Doping increased the PL, and in the case of Cr significantly reduced the associated PL wavelength. The optical bandgaps, calculated by means of UV-vis absorption spectra, increased with crystallinity and decreased with the doping level. It was considered that yttrium and aluminum substituted Sr2+, whereas chromium replaced Ti4+. It is believed that luminescence centers are oxygen-deficient BO6 complexes, or the same centers with some other defects, such as oxygen or strontium vacancies, or BO6 complexes with some other defects placed in their neighborhood. The character of excitation and the competition for negatively charged non-bridging oxygen (NBO) among numerous types of BO6 defect complexes in doped SrTiO3 results in various broadband luminescence peak positions. The results herein reported are an indicative that amorphous titanates are sensitive to doping, which is important for the control of the electro-optic properties of these materials. The probable incorporation of Cr into the Ti site suggests that the existence of a double network former can lead to materials displaying a more intense photoluminescence.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)