949 resultados para Mutagenesis, Site-Directed


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A dissertação busca responder em que medida todas as possibilidades de interação ofertadas pelo Portal da Câmara dos Deputados atendem às necessidades de interação política dos cidadãos que utilizam estes novos canais. Quem são os usuários destas novas ferramentas? Qual a avaliação que eles fazem destes novos canais? Qual é a opinião deles sobre as possibilidades de participação eletrônica? O principal aspecto teórico abordado nesta dissertação é a seguinte discussão: a internet replica formas de participação tradicionais ou é realmente capaz de fazer com que mais cidadãos, incluindo aqueles que estão alheios e desinteressados, participem? Essas questões foram direcionadas ao Portal da Câmara dos Deputados do Brasil, que, ao longo dos últimos anos, soube adaptar-se e promover um espaço de amplo acesso a informações legislativas, com capacidade de contato e interação entre o cidadão e o seu representante e é considerado, atualmente, o melhor portal legislativo da América do Sul. A dissertação utilizou duas metodologias distintas. A primeira consistiu em analisar as estatísticas de acesso ao Portal, identificando assim os padrões de acesso: os sites de referência e os caminhos de busca através dos quais se chega ao Portal. A segunda consistiu na condução de um Web Survey para coletar a opinião dos usuários. O questionário aplicado teve como objetivo coletar avaliações das ferramentas disponibilizadas pelo Portal, identificar o perfil dos usuários e compreender-lhes o comportamento político no mundo off-line. Um dos principais achados é o de que a Democracia Eletrônica desenvolvida pelo Portal da Câmara dos Deputados tem servido mais aos profissionais da política que ao cidadão comum. Mas, mesmo assim, o cidadão comum, interessado em buscar participação, contato e interação com os atores políticos, está procurando essas ferramentas on-line. Palavras chaves: Democracia Eletrônica, Câmara dos Deputados, pesquisa on-line, estatísticas de acesso.

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Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease characterized by the lack of reaction to noxious stimuli and anhidrosis. It is caused by mutations in the NTRK1 gene, which encodes the high affinity tyrosine kinase receptor I for Neurotrophic Growth Factor (NGF). -- Case Presentation: We present the case of a female patient diagnosed with CIPA at the age of 8 months. The patient is currently 6 years old and her psychomotor development conforms to her age (RMN, SPECT and psychological study are in the range of normality). PCR amplification of DNA, followed by direct sequencing, was used to investigate the presence of NTRK1 gene mutations. Reverse transcriptase (RT)-PCR amplification of RNA, followed by cloning and sequencing of isolated RT-PCR products was used to characterize the effect of the mutations on NTRK1 mRNA splicing. The clinical diagnosis of CIPA was confirmed by the detection of two splice-site mutations in NTRK1, revealing that the patient was a compound heterozygote at this gene. One of these alterations, c.574+1G > A, is located at the splice donor site of intron 5. We also found a second mutation, c.2206-2 A > G, not previously reported in the literature, which is located at the splice acceptor site of intron 16. Each parent was confirmed to be a carrier for one of the mutations by DNA sequencing analysis. It has been proposed that the c.574+1G > A mutation would cause exon 5 skipping during NTRK1 mRNA splicing. We could confirm this prediction and, more importantly, we provide evidence that the novel c.2206-2A > G mutation also disrupts normal NTRK1 splicing, leading to the use of an alternative splice acceptor site within exon 17. As a consequence, this mutation would result in the production of a mutant NTRK1 protein with a seven aminoacid in-frame deletion in its tyrosine kinase domain. --Conclusions: We present the first description of a CIPA-associated NTRK1 mutation causing a short interstitial deletion in the tyrosine kinase domain of the receptor. The possible phenotypical implications of this mutation are discussed.

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Waterhyacinth (Eichhornia crassipes(Mart.) Solms), is a serious problem in the Sacramento Delta. Two weevil species (Neochetina bruchi Hustache and N. eichhorniae Warner) have been introduced as biological control agents. The purpose of this study was to test the hypothesis that nitrogen (N) in the tissue of waterhyacinth was not sufficient to support weevil growth and reproduction. Because it grows better on plants with high N content and because it has a greater impact on the growth of high N plants, N. bruchi may be a more effective biological control agent in the Sacramento Delta.

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The ontogeny of haematopoiesis in the perciform fish, spot Leiostomus xanthurus, differed from that reported as the norm for fishes, as exemplified by the cypriniform zebrafish Danio rerio, and observed in the batrachoidiform oyster toadfish Opsanus tau. Erythropoiesis in spot was first evident in the head kidney of yolk-sac larvae 3 days after hatching (DAH). No embryonic intermediate cell mass (ICM) of primitive stem cells or blood islands on the yolk were apparent within embryos. Erythrocytes were first evident in circulation near the completion of yolk absorption, c. 5 DAH, when larvae were c. 20 mm notochord length (LN). Erythrocyte abundance increased rapidly with larval development for c. 14 to 16 DAH, then became highly variable following changes in cardiac chamber morphology and volume. Erythrocytic haemoglobin (Hb) was not detected within whole larvae until they were 12 DAH or c. 31 mm LN, well after yolk and oil-globule absorption. The Hb was not quantified until larvae were >47 DAH or >7 mm standard length. The delayed appearance of erythrocytes and Hb in spot was similar to that reported for other marine fishes with small embryos and larvae. In oyster toadfish, a marine teleost that exhibits large embryos and larvae, the ICM and Hb were first evident in two bilateral slips of erythropoietic tissue in the embryos, c. 5 days after fertilization. Soon thereafter, erythrocytes were evident in the heart, and peripheral and vitelline circulation. Initial haematopoiesis in oyster toadfish conformed with that described for zebrafish. While the genes that code for the development of haematopoiesis are conserved among vertebrates, gene expression lacks phylogenetic pattern among fishes and appears to conform more closely with phenotypic expression related to physiological and ecological influences of overall body size and environmental oxygen availability.

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This report documents abundance and cover for selected elements of the benthic coral reef assemblage at the site of the 1984 grounding of the M/V Wellwood on Molasses Reef, Florida Keys. The purpose of the effort was to establish a pre-construction baseline before the installation of reef modules at the site. The installation process is intended to stabilize fractured substrates that were recently exposed by storm impacts, and to provide three-dimensional relief in order to enhance reef community recovery. It is hoped that the restoration effort will result in a biological assemblage with the character of the transition community that would exist there had the incident not occurred. To date, the assemblage has developed the character of a comparatively featureless hard ground similar in composition to hard ground areas and transition zones surrounding the grounding site. These data will allow scientists and resource managers to better track the trajectory of recovery following the installation of modules. Direct counts of scleractinian and gorgonian corals, hydrocorals of the genus Millepora, and zoanthids of the genus Palythoa were made in three areas within and around the grounding site. The site is poorly developed with respect to scleractinian colony size and cover compared to surrounding areas. Key scleractinian species necessary for the development of topographic relief in the area denuded by the grounding are not well represented in the current community. Though gorgonian cover and richness is similar in all study areas, gorgonian community recovery in the damaged area is not complete. Unlike surrounding areas, one species, Pseudopterogorgia americana, accounts for over half of all corals at the grounding site, over 80% of all gorgonians, and nearly all the coral cover. Based on these findings and other observations made in the 18 years since the grounding, recommendations are made that should be considered in the course of human intervention targeted at stabilizing and enhancing the site. (PDF contains 24 pages.)

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The National Marine Sanctuaries Act (16 U.S.C. 1431, as amended) gives the Secretary of Commerce the authority to designate discrete areas of the marine environment as National Marine Sanctuaries and provides the authority to promulgate regulations to provide for the conservation and management of these marine areas. The waters of the Outer Washington Coast were recognized for their high natural resource and human use values and placed on the National Marine Sanctuary Program Site Evaluation List in 1983. In 1988, Congress directed NOAA to designate the Olympic Coast National Marine Sanctuary (Pub. L. 100-627). The Sanctuary, designated in May 1994, worked with the U.S. Coast Guard to request the International Maritime Organization designate an Area to be Avoided (ATBA) on the Olympic Coast. The IMO defines an ATBA as "a routeing measure comprising an area within defined limits in which either navigation is particularly hazardous or it is exceptionally important to avoid casualties and which should be avoided by all ships, or certain classes of ships" (IMO, 1991). This ATBA was adopted in December 1994 by the Maritime Safety Committee of the IMO, “in order to reduce the risk of marine casualty and resulting pollution and damage to the environment of the Olympic Coast National Marine Sanctuary”, (IMO, 1994). The ATBA went into effect in June 1995 and advises operators of vessels carrying petroleum and/or hazardous materials to maintain a 25-mile buffer from the coast. Since that time, Olympic Coast National Marine Sanctuary (OCNMS) has created an education and monitoring program with the goal of ensuring the successful implementation of the ATBA. The Sanctuary enlisted the aid of the U.S. and Canadian coast guards, and the marine industry to educate mariners about the ATBA and to use existing radar data to monitor compliance. Sanctuary monitoring efforts have targeted education on tank vessels observed transiting the ATBA. OCNMS's monitoring efforts allow quantitative evaluation of this voluntary measure. Finally, the tools developed to monitor the ATBA are also used for the more general purpose of monitoring vessel traffic within the Sanctuary. While the Olympic Coast National Marine Sanctuary does not currently regulate vessel traffic, such regulations are within the scope of the Sanctuary’s Final Environmental Impact Statement/Management Plan. Sanctuary staff participate in ongoing maritime and environmental safety initiatives and continually seek opportunities to mitigate risks from marine shipping.(PDF contains 44 pages.)

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This study owes its inception to the wisdom and experience of the staff of the Northeast Fisheries Science Center who, after several decades of surveys in the New York Bight, recognized a unique opportunity to capitalize on the decision to stop ocean dumping of sewage sludge and designed an innovative field study to evaluate effects on living marine resources and their habitats. For decades ocean dumping was viewed as a cheap and effective means for disposal of wastes generated by urbanized coastal areas. Even after the 12-mile site was closed, sewage sludge continued to be dumped at Deepwater Dumpsite 106. The 6-mile site off the NewJersey coast is still used as a dumpsite for dredged material from New York Harbor areas. Discussions continue on the propriety of using the deep ocean spaces for disposal of a variety of material including low level radioactive wastes. Consequently, managers are still faced with critical decisions in this area. It is to be hoped that the results from the 12-mile study will provide the necessary information on which these managers can evaluate future risks associated with ocean waste disposal. (PDF file contains 270 pages.)

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The aims of this paper are twofold. Firstly to characterise rural poverty and to give a broad overview of the agro-ecological, climatic and socio-economic conditions in Sri Lanka which shape poverty. Secondly to present the methodology employed to screen suitable field research areas and the techniques subsequently used to carry out Rapid Rural Appraisal in two upper-watersheds villages. Also presented are details of a concurrent stakeholder analysis that aimed to investigate the capacity of secondary stakeholders to promote sustainable aquatic resource development and to invite their participation in the formulation of a participatory research agenda.[PDF contains 58 pages]

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One of the main problems that public institutions face in the management of protected areas, such as the European Natura 2000 network, is determining how to design and implement sustainable management plans that account for the wide range of marketed and non-marketed benefits they provide to society. This paper presents an application of a stated preference valuation approach aimed at evaluating the social preferences of the population of the Basque Country, Spain, for the key attributes of a regional Natura 2000 network site. According to our results, individuals’ willingness-to-pay (WTP) is higher for attributes associated with non-use values (native tree species and biodiversity conservation) than for attributes associated with use values (agricultural development and commercial forestry). The paper concludes that management policies related to Natura 2000 network sites should account for both for the importance of non-use values and the heterogeneity of the population's preferences in order to minimize potential land use conflicts.