119 resultados para Mutação


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The Literary adaptation for television miniseries are present in the schedule grids of Brazilian television channels. We can afford that it is about a line of production of the most relevant in the two main television networks that maintain a project of teledramaturgy. The Strong presence of miniseries imposes the need to investigate the process of intersemiotic translation from the literary text to the audiovisual text on the way to reflect the esthetics of these productions in front of the constants process of tecnology mutation. In this sense the goal of this research is to analize the book adaptation O canto da sereia for television, where we identify the discursivas strategies that structure the narrativity, the themes and the figures that enable the identification with the original literary text

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The exercise-induced collapse (EIC) is a hereditary disease characterized by muscle weakness, impaired locomotion and collapse after intense exercise. This autossomic recessive disorder affects mainly Labrador Retriever presenting the mutation c.767G>T in the dynamin 1 (DNM1) gene. The objective of this study is to report the first case of exercise-induced collapse in Labrador Retriever in Brazil. The molecular test detected the specific genetic mutation and confirmed the clinical diagnosis in a Labrador Retriever with clinical history of weakness and collapse after exercise. It is important to include this disease as part of the differential diagnosis of neuromuscular diseases in Labrador Retriever and use the molecular test to guide matings.

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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The most important role played by the enzyme Glucose- 6-Phosphate Dehydrogenase (G6PD) in erythrocyte metabolism is in generating energy and reducing power used to protect the cell against oxidative attack. G6PD deficiency is the erythroenzymopathy that most frequently causes hemolytic anemia, and more than 130 molecular variants have already been identified. The aim of this study was to analyze the genetic mutations in the G6PD-deficient adult males in the population of the region of Araraquara, São Paulo State. Out of 5087 male blood donors, 89 were deficient for G6PD, as confirmed by assaying the enzyme activity and electrophoresis on cellulose acetate. Thus, a frequency of 1.75% of G6PD-deficient patients was found, this value being similar to other investigations in São Paulo state. Molecular analysis was performed by amplification of genomic DNA with specific primers and digestion with restriction enzymes. In 96.6% of the patients, the G6PD A¯ variant was observed, with mutations at residues 376(A→G) and 202(G→A). Mean G6PD specific activity among the patients was 1.31 IU.g Hb-1.min-1 at 37ºC, that is 10.8% of the normal activity of the G6PD B enzyme. The variant forms G6PD A¯ 680(G→T) and 968(T→C) were not found. In 3.4% of the deficient individuals, the G6PD Mediterranean variant was found, with a mutation at 563(C→T). In these cases, mean enzymatic activity was 0.25 IU.g Hb-1.min-1 at 37ºC, or 2.1% of the enzymatic activity of G6PD B. The use of traditional techniques, allied to the identification of the different molecular variants, is important for the understanding of the structural and functional properties and hemolytic behavior of the red blood cells of the patient.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Pós-graduação em Pesquisa e Desenvolvimento (Biotecnologia Médica) - FMB

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Pós-graduação em Pesquisa e Desenvolvimento (Biotecnologia Médica) - FMB

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Pós-graduação em Microbiologia Agropecuária - FCAV

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Contexto: A síndrome de Gorlin ou síndrome do nevo basocelular é desordem autossômica dominante causada por mutação no gene Patched, que faz parte da via de sinalização Hedgehog. Descrição do caso: O paciente descrito tem 67 anos, apresenta múltiplos carcinomas basocelulares com início desde os 17 anos, além de cistos odontogênicos, escoliose dorsal, pits palmoplantares, hipertelorismo e macrocefalia. Discussão: A síndrome é manifestada pela tríade de múltiplos carcinomas basocelulares, tumores odontogênicos ceratocísticos e anomalias esqueléticas. Outras alterações orgânicas podem estar presentes, sendo o meduloblastoma, tumor maligno da fossa posterior, causa potencial de morte. Conclusão: O diagnóstico precoce é importante para que terapias menos agressivas sejam realizadas. O tratamento envolve equipe multidisciplinar e o aconselhamento genético é mandatório.

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The BCL2 protein found in the internal mothocondrial membrana regulates the apoptosis preventing the programmed cell death. The translocation (14:18), detected in 70 to 85% of the follicular lymphoma, lead the super expression of BCL2 protein, by juxtaposition of BCL2 gene to the JH segment of the immunoglobulins' heavy chain gene. However, the found of the BCL2 expression in head and neck carcinoma are contradictious. OBJECTIVE: To investigate the presence of the translocation (14:18) of the BCL2 gene in head and neck carcinoma. METHOD: Sixteen DNA samplers were examinated being 13 of squamous cells carcinoma (SCC) and 3 of epidermoid (CE), y means of chain reaction of the polymerase (PCR). RESULTS: The BCL2/JH rearrangement in 2 (15%) of the CCE 13 cases and in none of the 3 cases of CE. The average of the frequency of molecules with rearrangement was 46,44x107. Was not observed association between the rearrangement presence and the exhibition to tobacco and alcohol (p=0, 6545). CONCLUSION: Different from the results found in follicular lymphoma, the presence of the translocation (14; 18) in head and neck carcinomas is not common and, when it occurs, it can be an occasional mutation not associated to exhibition to the tobacco and alcohol.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)