10 resultados para Peter Jackson
em Repositório Institucional UNESP - Universidade Estadual Paulista "Julio de Mesquita Filho"
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
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Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3′→5′ exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease. Biallelic mutations in TREX1, RNASEH2A, RNASEH2B, and RNASEH2C were observed in 31, 3, 47, and 18 families, respectively. In five families, we identified an RNASEH2A or RNASEH2B mutation on one allele only. In one child, the disease occurred because of a de novo heterozygous TREX1 mutation. In 22 families, no mutations were found. Null mutations were common in TREX1, although a specific missense mutation was observed frequently in patients from northern Europe. Almost all mutations in RNASEH2A, RNASEH2B, and RNASEH2C were missense. We identified an RNASEH2C founder mutation in 13 Pakistani families. We also collected clinical data from 123 mutation-positive patients. Two clinical presentations could be delineated: an early-onset neonatal form, highly reminiscent of congenital infection seen particularly with TREX1 mutations, and a later-onset presentation, sometimes occurring after several months of normal development and occasionally associated with remarkably preserved neurological function, most frequently due to RNASEH2B mutations. Mortality was correlated with genotype; 34.3% of patients with TREX1, RNASEH2A, and RNASEH2C mutations versus 8.0% RNASEH2B mutation-positive patients were known to have died (P = .001). Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified. © 2007 by The American Society of Human Genetics. All rights reserved.
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Studies focusing on communities of helminths from Brazilian lizards are increasing, but there are many blanks in the knowledge of parasitic fauna of wild fauna. This lack of knowledge hampers understanding of ecological and parasitological aspects of involved species. Moreover, the majority of research has focused on parasitic fauna of lizards from families Tropiduridae and Scincidae. Only a few studies have looked at lizards from the family Leiosauridae, including some species of Enyalius. This study presents data on the gastrointestinal parasite fauna of Enyalius perditus and their relationships with ecological aspects of hosts in a disturbed Atlantic rainforest area in the state of Minas Gerais, south-eastern Brazil. Two nematode species, Oswaldocruzia burseyi [(Molineidae) and Strongyluris oscari (Heterakidae) were found. Nematode species showed an aggregated distribution in this host population, with O. burseyi being more aggregated than S. oscari. The present study extends the range of occurrence of O. burseyi to the Brazilian continental area. © 2011 Cambridge University Press.
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
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Pós-graduação em Geografia - IGCE
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Pós-graduação em Letras - IBILCE
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The present text aims to evaluate some effects of the use of elements in the representation of the madness and of the absurdity in the play Marat/Sade, written by the German author Peter Weiss. To accomplish this task, the analysis is built on comparative evaluations between text elements of the absurdity and of the surrealism, pursuing its textual construction.
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)