77 resultados para Iumna Maria Simon


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Chromobacterium violaceum is one of millions of species of free-living microorganisms that populate the soil and water in the extant areas of tropical biodiversity around the world. Its complete genome sequence reveals (i) extensive alternative pathways for energy generation, (ii) ≈500 ORFs for transport-related proteins, (iii) complex and extensive systems for stress adaptation and motility, and (iv) wide-spread utilization of quorum sensing for control of inducible systems, all of which underpin the versatility and adaptability of the organism. The genome also contains extensive but incomplete arrays of ORFs coding for proteins associated with mammalian pathogenicity, possibly involved in the occasional but often fatal cases of human C. violaceum infection. There is, in addition, a series of previously unknown but important enzymes and secondary metabolites including paraquat-inducible proteins, drug and heavy-metal-resistance proteins, multiple chitinases, and proteins for the detoxification of xenobiotics that may have biotechnological applications.

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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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The Triassic fish faunas of the Southern Hemisphere are only known from a few sedimentary basins and the most productive sites are those from the Karoo Supergroup, in South Africa and the Sydney Basin of Australia. A single lungfish tooth plate ascribed to Ptychoceratodus cf. philippsi was recovered from Late Triassic (Carnian) red beds of southern Brazil and is described herein. This find extends to South America the palaeogeographic distribution of the genus, which occurs in the Early Triassic of Australia and South Africa and the Middle/Late Triassic of Europe and Late Triassic of Madagascar and India. The presence of this dipnoan solely in the uppermost part of the Santa Maria Formation suggests that the migration of Ptychoceratodus towards the Paraná Basin began not before the late Induan/early Olenekian (late Early Triassic). At that time, more humid (monsoonal) conditions prevailed in what is now southern Brazil, compared to semi-arid/desert conditions that dominated the Late Permian and possibly the earliest Early Triassic (the latter presumably not represented in the Paraná Basin). © The Geological Society of London 2008.

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Land use dynamics is a consequence of socioeconomic system cycles. In this context, this work was developed aiming to evaluate land use alterations in Santa Bárbara watershed (Pelotas - Brazil), during 53 years (1953 - 2006), evidencing socioeconomic elements that contributed to this process. For land use dynamic analysis, maps of 1953, 1965, 1995 e 2006 were elaborated. Spatial changes that happened in Santa Bárbara watershed represent a regional process: pasture areas had decrease while culture lands had a gradual increase. This conjuncture is a consequence of the crisis in livestock destined to salted and dried meat production and of the food industry growth in Pelotas that impelled urban expansion, forest area reduction and artificial water reservoirs increase. © Scripta Nova, 2010.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Pós-graduação em Agronomia (Energia na Agricultura) - FCA

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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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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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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)