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A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3

LEZIROVITZ, Karina; MAESTRELLI, Sylvia Regina Pedrosa; COTRIM, Nelson Henderson; OTTO, Paulo A.; PEARSON, Peter L.; MINGRONI-NETTO, Regina Celia
Fonte: SPRINGER Publicador: SPRINGER
Tipo: Artigo de Revista Científica
Português
Relevância na Pesquisa
16.69%
Split-hand/foot malformation (SHFM) associated with aplasia of long bones, SHFLD syndrome or Tibial hemimelia-ectrodactyly syndrome is a rare condition with autosomal dominant inheritance, reduced penetrance and an incidence estimated to be about 1 in 1,000,000 liveborns. To date, three chromosomal regions have been reported as strong candidates for harboring SHFLD syndrome genes: 1q42.2-q43, 6q14.1 and 2q14.2. We characterized the phenotype of nine affected individuals from a large family with the aim of mapping the causative gene. Among the nine affected patients, four had only SHFM of the hands and no tibial defects, three had both defects and two had only unilateral tibial hemimelia. In keeping with previous publications of this and other families, there was clear evidence of both variable expression and incomplete penetrance, the latter bearing hallmarks of anticipation. Segregation analysis and multipoint Lod scores calculations (maximum Lod score of 5.03 using the LINKMAP software) using all potentially informative family members, both affected and unaffected, identified the chromosomal region 17p13.1-17p13.3 as the best and only candidate for harboring a novel mutated gene responsible for the syndrome in this family. The candidate gene CRK located within this region was sequenced but no pathogenic mutation was detected.

Solar energy in Portugal: development perspectives based on a comparison with Germany

Virgilio, Rodrigo Pedro da Piedade Coelho
Fonte: Instituto Universitário de Lisboa Publicador: Instituto Universitário de Lisboa
Tipo: Dissertação de Mestrado
Publicado em //2009 Português
Relevância na Pesquisa
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Master in International Management / JEL Classification: Q42 - Alternative energy sources; Q43 - Government Policy; Solar energy is one of the renewable energies that has greater potential for future development. Portugal is one of the European countries with better solar conditions, but is certainly not one of the countries that has been taking the best advantage of it. It is therefore appropriate to know why Portugal is not using and developing solar energy in accordance with its wide availability. On the other hand, Germany is using solar energy as no other country and is currently one of the leading nations in this sector. After a comparative study of the photovoltaic and solar thermal markets in Portugal and Germany, the conclusion is that the different stage of development between the two countries is largely the result of the different policies adopted. That is, the development of solar energy depends not only on the solar radiation of each country, but above all on the policies adopted to promote its development and enhance these markets. According to the findings of this comparative study and taking in consideration the trends in the solar energy sector, a set of strategic guidelines for the future development of solar industry in Portugal was defined.; A energia solar é uma das energias renováveis que apresenta maior potencial de desenvolvimento futuro. Portugal é um dos países da Europa com melhores condições para a utilização da energia solar...

Econometric study of the spanish electricity spot market and primary energy markets using VAR/VECM methodology: (cointegration and nonstationary time series)

Pacheco, Ricardo Francisco Firmino Mendes
Fonte: Instituto Universitário de Lisboa Publicador: Instituto Universitário de Lisboa
Tipo: Dissertação de Mestrado
Publicado em //2010 Português
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Mestrado em Finanças/ C32, G12, Q43; The aim of this work is to study the dynamic relationship between prices of wholesale electricity market in Spain and prices of the main fuel references to generate electricity (coal, crude oil, gasoil and natural gas). The dynamic relationship between the various interconnected electrical systems (Spain and Portugal, Spain and France), using as reference prices for wholesale electricity markets formed in each electrical system, is also relevant for analysis purposes due to impacts on prices of wholesale electricity market in Spain. The results suggest: cointegration between prices of wholesale electricity market in Spain and the variables under analysis (fuel and wholesale electricity market prices); a long-term relationship between prices of wholesale electricity market in Spain, coal prices, crude oil prices, gasoil prices, natural gas prices of the Dutch TTF market and the prices of wholesale electricity market in Portugal; a short-run relationship between prices of wholesale electricity market in Spain and natural gas prices of the English NBP market and Belgian Zeebrugge market; the presence of strong exogeneity in the relationship between prices of wholesale electricity market in Spain and prices of wholesale electricity market in France; proportionality between crude oil prices...

Modelling and forecasting brent prices

Silva, Tânia Cristina Dinis Marques e
Fonte: Instituto Universitário de Lisboa Publicador: Instituto Universitário de Lisboa
Tipo: Dissertação de Mestrado
Publicado em //2010 Português
Relevância na Pesquisa
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Mestrado em Finanças/ C23, Q43; Desde o início dos tempos que o Brent, mais conhecido por petróleo, tem sido uti-lizado em diversas aplicações, devido à sua elevada densidade energética, facilidade de transporte e relativa abundância. Nos últimos anos, o Brent tornou-se na fonte de energia mais importante, desempenhando um papel preponderante na manutenção da nossa actual sociedade. Neste contexto, o objectivo principal deste trabalho é mode-lar e prever os preços mensais e diários do Brent, de forma a melhor compreender e antever o seu comportamento. Na modelação e previsão dos preços utilizaram-se duas abordagens diferentes. A primeira baseia-se na análise de séries temporais com memória longa. A presença de memória longa é veri cada na média condicional e modelada a partir de modelos ARFIMA. Esta característica é também analisada na volatilidade da série e mode-lada através de modelos FIGARCH, FIAPARCH ou FIEGARCH. A outra abordagem considera modelos estocásticos de mudança de regime, nomeadamente modelos STAR, SETAR e MS-AR. A modelação dos preços diários de Brent é feita com base em modelos de séries tem-porais considerando memória longa, uma vez que esta característica foi identi cada na volatilidade da série. Modelos de mudança de regime foram também aplicados...

Estimação e selecção de caos determinístico em séries temporais financeiras

Ferreira, Pedro Fortes
Fonte: Instituto Universitário de Lisboa Publicador: Instituto Universitário de Lisboa
Tipo: Tese de Doutorado
Publicado em //2014 Português
Relevância na Pesquisa
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Doutoramento em Gestão, Especialização em Métodos Quantitativos / Classificação JEL C01, C02, C15, C18, C22, C51, C52, C53, C58, C63, C65, G13, G14, L13, O13, O14, O44, Q41, Q42, Q43, Q47, Q54, Q55, Q58; Procuramos a existência de dinâmicas não-lineares determinísticas (caos provável) nas séries financeiras discretas univariadas observadas, isto é, na commodity das licenças de carbono (EUETSYR2 INDEX), subjacente ao European Union Emission Trading Scheme (EU ETS) para mitigação do CO2, nas commodities energéticas provenientes dos principais combustíveis fósseis (petróleo bruto (USCRWTIC INDEX), gás natural (NG1 COMB comdty), carvão (API21 MON MCCL INDEX), e nas sucessões cronológicas de cotações das acções de utilities das principais construtoras de eólicas europeias (Acciona (ANA SM EQUITY), Gamesa (GAM SM EQUITY), Nordex (NDX1 GR EQUITY), Repower (RPW GR EQUITY ), Siemens (SIE GR EQUITY), Vestas (VWSDC EQUITY )), sabendo da ocorrência de relações não-lineares (não-determinísticas) entre os preços das licenças de carbono e os seus factores fundamentais, tais como, os preços das commodities energéticas, factores de risco macroeconómicos e climáticos (Lutz et al. (2013) [317]). Parece-nos assimfazer todo o sentido detectar a ocorrência de caos determinístico nos sinais observados...

The frequency domain causality analysis between energy consumption and income in the United States

Tiwari,Aviral Kumar
Fonte: Faculdade de Economia, Administração e Contabilidade de Ribeirão Preto da Universidade de São Paulo Publicador: Faculdade de Economia, Administração e Contabilidade de Ribeirão Preto da Universidade de São Paulo
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/03/2014 Português
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We investigated Granger-causality in the frequency domain between primary energy consumption/electricity consumption and GDP for the US by employing approach of Lemmens et al. (2008) and covering the period of January, 1973 to December, 2008. We found that causal and reverse causal relations between primary energy consumption and GDP and electricity consumption and GDP vary across frequencies. Our unique contribution in the existing literature lies in decomposing the causality on the basis of time horizons and demonstrating bidirectional the short-run, the medium-run and the long-run causality between GDP and primary energy consumption/electricity consumption and thus providing evidence for the feedback hypothesis. These results have important implications for the US for planning of the short, the medium and the long run energy and economic growth related policies.

Terminal deletion of chromosome 1(q43) in a female infant.

Garani, G P; Tamisari, L; Volpato, S; Vigi, V
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /03/1988 Português
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16.69%

A family with three independent autosomal translocations associated with 7q32----7qter syndrome.

Bass, H N; Sparkes, R S; Lessner, M M; Fox, M; Phoenix, B; Bernar, J
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /02/1985 Português
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Two persons within the same family were discovered to be trisomic for the segment 7qter. However, several features differed from those described in other patients with this syndrome, for example, normal birth weight and neck size, cleft palate, and beaked nose. In addition to the phenotypic variation, there were three independently segregating autosomal translocations in the pedigree: t(1;7)(q43;q32), t(1;6) (p22.3;q14.1), and t(3;10)(q26.1;p11.21). This is a finding that, to our knowledge, has not been previously reported.

Sequence-specific 1H-n.m.r. assignments and peptide backbone conformation in rat epidermal growth factor.

Mayo, K H; Cavalli, R C; Peters, A R; Boelens, R; Kaptein, R
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em 01/01/1989 Português
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The solution conformation of rat epidermal growth factor (EGF) has been investigated by proton n.m.r. techniques. Two-dimensional proton n.m.r. experiments have allowed sequential resonance assignments to be made for most protons. On the basis of these assignments, two regions of anti-parallel beta-sheet structure have been derived from the n.m.r. data. A beta-sheet segment running from about V19 to V23 (capital letters refer to amino acids in the single-letter notation) is folded onto a beta-sheet segment running from R28 to N32 and joined by a chain reversal from E24 to D27. A second region involves a beta-turn from V34 to Y37, which starts a short beta-sheet up to G39, followed by a chain reversal up to Q43, which leads to folding of the C-terminal beta-sheet segment, i.e. H44-R45, running antiparallel to the short Y37 beta-sheet segment. The N-terminal segment up to G18 exists in a multiple bend conformation and is folded on to the V29-V23/R28-N32 beta-sheet such that Y10, Y13, Y22 and Y29 are proximal to each other. Structural comparison of rat, murine and human EGFs indicates a number of highly conserved structural features common to at least these species of EGF.

Chromosomal organization and expression analysis of two distinct genes encoding glutamine/glutamic acid-rich proteins.

Ten Hagen, K G; Beres, T M; Szpirer, J; Szpirer, C; Tabak, L A
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em 15/05/1997 Português
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GRP-Ca and GRP-Cb are two genes that encode glutamine/glutamic acid-rich proteins of the rat. These genes are very similar in structure and sequence, differing only within an approx. 90 bp segment of exon 3. We have used distinct oligonucleotide probes to unambiguously distinguish GRP-Ca and GRP-Cb gene expression. The two genes are expressed to relatively equivalent levels only in the submandibular gland. Chronic daily exposure to the beta-adrenergic agonist, isoprenaline, resulted in a statistically significant decrease in GRP-Ca expression, with no effect on GRP-Cb, in contrast with previous reports. Furthermore it was determined by PCR analysis of both submandibular-gland cDNA and genomic DNA that the GRP-Cb gene shows interanimal variability in the number of 69 bp tandem repeats found within exon 3; GRP-Cb genes were shown to contain four, five or six repeats. GRP-Ca shows no such variability, containing only five tandem repeats in all animals examined. The two genes were localized to within 450 kb of one another at q43-q44 of rat chromosome 4 using somatic cell hybrid analysis, pulsed-field gel analysis and fluorescent in situ hybridization.

Localization of a Gene (MCUL1) for Multiple Cutaneous Leiomyomata and Uterine Fibroids to Chromosome 1q42.3-q43

Alam, N. A.; Bevan, S.; Churchman, M.; Barclay, E.; Barker, K.; Jaeger, E. E. M.; Nelson, H. M.; Healy, E.; Pembroke, A. C.; Friedmann, P. S.; Dalziel, K.; Calonje, E.; Anderson, J.; August, P. J.; Davies, M. G.; Felix, R.; Munro, C. S.; Murdoch, M.; Rend
Fonte: The American Society of Human Genetics Publicador: The American Society of Human Genetics
Tipo: Artigo de Revista Científica
Português
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27.33%
Dominant transmission of multiple uterine and cutaneous smooth-muscle tumors is seen in the disorder multiple leiomyomatosis (ML). We undertook a genomewide screen of 11 families segregating ML and found evidence for linkage to chromosome 1q42.3-q43 (maximum multipoint LOD score 5.40). Haplotype construction and analysis of recombinations permitted the minimal interval containing the locus, which we have designated “MCUL1,” to be refined to an ∼14-cM region flanked by markers D1S517 and D1S2842. Allelic-loss studies of tumors indicated that MCUL1 may act as a tumor suppressor. Identification of MCUL1 should have wide interest, since this gene may harbor low-penetrance variants predisposing to the common form of uterine fibroids and/or may undergo somatic mutation in sporadic leiomyomata.

Schizophrenia-associated chromosome 11q21 translocation: Identification of flanking markers and development of chromosome 11q fragment hybrids as cloning and mapping resources

Fletcher, Judy M.; Evans, Kathryn; Baillie, David; Byrd, Philip; Hanratty, Diane; Leach, Suzanne; Julier, Cecile; Gosden, John R.; Muir, Walter; Porteous, David J.; Clair, David St.; van Heyningen, Veronica
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /03/1993 Português
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Genetic linkage, molecular analysis, and in situ hybridization have identified TYR and D11S388 as markers flanking the chromosome 11 breakpoint in a large pedigree where a balanced translocation, t(1;11)(q43;q21), segregates with schizophrenia and related affective disorders. Somatic cell hybrids, separating the two translocation chromosomes from each other and from the normal homologues, have been produced with the aid of immunomagnetic sorting for chromosome 1– and chromosome 11–encoded cell-surface antigens. The genes for two of these antigens map on either side of the 11q breakpoint. Immunomagnetic bead sorting was also used to isolate two stable X-irradiation hybrids for each cell-surface antigen. Each hybrid carries only chromosome 11 fragments. Translocation and X-irradiation hybrids were analyzed, mainly by PCR, for the presence of 19 chromosome 11 and 4 chromosome 1 markers. Ten newly designed primers are reported. The X-irradiation hybrids were also studied cytogenetically, for human DNA content, by in situ Cot1 DNA hybridization and by painting the Alu-PCR products from these four lines back onto normal human metaphases. The generation of the translocation hybrids and of the chromosome 11q fragment hybrids is a necessary preliminary to determining whether a schizophrenia-predisposition gene SCZD2 is encoded at this site.

New deletion syndrome: 1q43.

Juberg, R C; Haney, N R; Stallard, R
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /05/1981 Português
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A male infant showed dysmorphology of the head and face, neck, extremities, and genitalia, as well as growth and mental retardation. His G-banded karyotype was 46,XY,--1+der(1),t(1;16)(q43;q24)mat. Combined with five previously reported cases involving similar terminal deletions beginning at 1q42 or 43, we show that the homology of phenotypic characteristics permits identification of a new deletion syndrome, the first involving chromosome 1.

Genomewide Linkage Scan for Split–Hand/Foot Malformation with Long-Bone Deficiency in a Large Arab Family Identifies Two Novel Susceptibility Loci on Chromosomes 1q42.2-q43 and 6q14.1

Naveed, Mohammed; Nath, Swapan K.; Gaines, Mathew; Al-Ali, Mahmoud T.; Al-Khaja, Najib; Hutchings, David; Golla, Jeffrey; Deutsch, Samuel; Bottani, Armand; Antonarakis, Stylianos E.; Ratnamala, Uppala; Radhakrishna, Uppala
Fonte: The American Society of Human Genetics Publicador: The American Society of Human Genetics
Tipo: Artigo de Revista Científica
Português
Relevância na Pesquisa
27.66%
Split–hand/foot malformation with long-bone deficiency (SHFLD) is a rare, severe limb deformity characterized by tibia aplasia with or without split-hand/split-foot deformity. Identification of genetic susceptibility loci for SHFLD has been unsuccessful because of its rare incidence, variable phenotypic expression and associated anomalies, and uncertain inheritance pattern. SHFLD is usually inherited as an autosomal dominant trait with reduced penetrance, although recessive inheritance has also been postulated. We conducted a genomewide linkage analysis, using a 10K SNP array in a large consanguineous family (UR078) from the United Arab Emirates (UAE) who had disease transmission consistent with an autosomal dominant inheritance pattern. The study identified two novel SHFLD susceptibility loci at 1q42.2-q43 (nonparametric linkage [NPL] 9.8, P=.000065) and 6q14.1 (NPL 7.12, P=.000897). These results were also supported by multipoint parametric linkage analysis. Maximum multipoint LOD scores of 3.20 and 3.78 were detected for genomic locations 1q42.2-43 and 6q14.1, respectively, with the use of an autosomal dominant mode of inheritance with reduced penetrance. Haplotype analysis with informative crossovers enabled mapping of the SHFLD loci to a region of ∼18.38 cM (8.4 Mb) between single-nucleotide polymorphisms rs1124110 and rs535043 on 1q42.2-q43 and to a region of ∼1.96 cM (4.1 Mb) between rs623155 and rs1547251 on 6q14.1. The study identified two novel loci for the SHFLD phenotype in this UAE family.

Molecular cytogenetic analysis of 11 new breast cancer cell lines

Forozan, F; Veldman, R; Ammerman, C A; Parsa, N Z; Kallioniemi, A; Kallioniemi, O-P; Ethier, S P
Fonte: Nature Publishing Group Publicador: Nature Publishing Group
Tipo: Artigo de Revista Científica
Publicado em /12/1999 Português
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We describe a survey of genetic changes by comparative genomic hybridization (CGH) in 11 human breast cancer cell lines recently established in our laboratory. The most common gains took place at 8q (73%), 1q (64%), 7q (64%), 3q (45%) and 7p (45%), whereas losses were most frequent at Xp (54%), 8p (45%), 18q (45%) and Xq (45%). Many of the cell lines displayed prominent, localized DNA amplifications by CGH. One-third of these loci affected breast cancer oncogenes, whose amplifications were validated with specific probes: 17q12 (two cell lines with ERBB2 amplifications), 11q13 (two with cyclin-D1), 8p11–p12 (two with FGFR1) and 10q25 (one with FGFR2). Gains and amplifications affecting 8q were the most common genetic alterations in these cell lines with the minimal, common region of involvement at 8q22–q23. No high-level MYC (at 8q24) amplifications were found in any of the cell lines. Two-thirds of the amplification sites took place at loci not associated with established oncogenes, such as 1q41–q43, 7q21–q22, 7q31, 8q23, 9p21–p23, 11p12–p14, 15q12–q14, 16q13–q21, 17q23, 20p11–p12 and 20q13. Several of these locations have not been previously reported and may harbour important genes whose amplification is selected for during cancer development. In summary...

Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas

Barker, K T; Bevan, S; Wang, R; Lu, Y-J; Flanagan, A M; Bridge, J A; Fisher, C; Finlayson, C J; Shipley, J; Houlston, R S
Fonte: Nature Publishing Group Publicador: Nature Publishing Group
Tipo: Artigo de Revista Científica
Publicado em 12/08/2002 Português
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16.69%
Germline mutations in the fumarate hydratase gene at 1q43 predispose to dominantly inherited skin and uterine leiomyomata and leiomyosarcomas. The enzyme, which is a component of the tricarboxylic acid cycle, acts as a tumour suppressor. To evaluate fumarate hydratase in respective sporadic tumours, we analysed a series of 26 leiomyosarcomas and 129 uterine leiomyomas (from 21 patients) for somatic mutations in fumarate hydratase and allelic imbalance around 1q43. None of the 26 leiomyosarcomas harboured somatic mutations in fumarate hydratase. Fifty per cent of leiomysarcomas tested showed evidence of allelic imbalance at 1q, but this was not confined to the vicinity of fumarate hydratase. Only 5% (seven out of 129) of the leiomyomas showed allele imbalance at 1q42-q43 and no somatic mutations in fumarate hydratase were observed. Our findings indicate that mutations in fumarate hydratase do not play a major role in the development of sporadic leiomyosarcomas or uterine leiomyomas.

Pathogenicity and antigenicity of a new variant of Korean nephropathogenic infectious bronchitis virus

Choi, Kang-Seuk; Lee, Eun-Kyoung; Jeon, Woo-Jin; Park, Mi-Ja; Kim, Jin-Won; Kwon, Jun-Hun
Fonte: The Korean Society of Veterinary Science Publicador: The Korean Society of Veterinary Science
Tipo: Artigo de Revista Científica
Português
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17.33%
Despite the existence of an active vaccination program, recently emerged strains of nephropathogenic infectious bronchitis virus (IBV) in Korea have caused significant economic losses in the poultry industry. In this study, we assessed the pathogenic and antigenic characteristics of a K-IIb type field strain of IBV that emerged in Korea since 2003, such as Kr/Q43/06. Specific pathogen free 1-week-old chickens exhibited severe respiratory symptoms (dyspnea) and nephropathogenic lesions (swollen kidneys with nephritis and urate deposits) following challenge with the recent IBV field strain. The antigenic relatedness (R value), based on a calculated virus neutralization index, of the K-IIb type field strain and K-IIa type strain KM91 (isolated in 1991) was 30%, which indicated that the recent strain, Kr/Q43/06, is a new variant that is antigenically distinct from strain KM91. This report is the first to document the emergence of a new antigenic variant of nephropathogenic IBV in chicken from Korea.

Technological Uncertainty and Cost-Effectiveness of CO2 Emission Reduction

LÖSCHEL Andreas
Fonte: ELSEVIER SCIENCE BV Publicador: ELSEVIER SCIENCE BV
Tipo: Articles in Journals Formato: Printed
Português
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This paper studies implications of uncertainty about the arrival date of a competitive CO2 backstop technology for the design of cost-effective CO2 emission trading schemes. For this purpose, we develop a dynamic general equilibrium model that captures empirical links between CO2 emissions associated with energy use, the rate and direction of technical change and the economy. We specify CO2 capture and storage (CCS) as the backstop technology whose competitiveness is anticipated or not. We find that the discounted welfare loss associated with the environmental target is lower if CCS is not anticipated and that CO2 shadow prices are then relatively high in the years before CCS is competitive. By not simply postponing the implementation of an emission reduction strategy until CCS is competitive, one relies more on economy-wide technical change and its welfare-enhancing technology externalities, thus allowing for a higher steady state. Keywords: CO2 capture and storage, computable general equilibrium modeling, directed technical change, emission trading, technological uncertainty JEL classification: D58, D83, H23, O33, Q43; JRC.DG.J.6-Sustainable production and consumption

Economic impacts of solar thermal electricity technology deployment on Andalusian productive activities: a CGE approach

CANSINO Jose Manuel; CARDENETE FLORES MANUEL ALEJANDRO; GONZALEZ-LIMON Jose Manuel; PABLO-ROMERO Maria Del Populo
Fonte: SPRINGER Publicador: SPRINGER
Tipo: Articles in Journals Formato: Online
Português
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Solar thermal electricity is a type of renewable energy technology of special interest for Andalusia (southern Spain) because of the large number of annual sunshine hours. This paper estimates the impact on productive activities of increasing the production capacity of the installed solar thermal plants in Andalusia. Using a Computable General Equilibrium (CGE) approach, estimates of the changes in the economic sectors’ activity under two different scenarios are obtained: i) based on two types of solar thermal electricity plants currently in operation; and ii) based on an increase from 11 MW in 2007 to 800 MW installed capacity by 2013 to comply with the ‘Plan Andaluz de Sostenibilidad Energética (PASENER) – Sustainable Energy Plan for Andalusia’. For the case of a parabolic-trough solar collector power plant, results show that compliance with the PASENER goal would increase the level of the productive activities by around 30%. For the alternative technology – a solar-tower power plant – results show that activities would increase by around 5% for 30 years, the estimated lifetime of this type of plant. Thus the impact of the solar thermal electricity plants on the productive activities of the PASENER compliant production goal would be remarkable. Keywords solar thermal electricity...

Aphidicolin induces break points in heterozygous Robertsonian translocation rob(1;29) from Uruguayan Creole cattle: Brief post

Artigas,Rody; Iriarte,Andrés; Tellechea,Beatriz; Llambí,Silvia; de Bethencourt,Miguel; Postiglioni,Alicia
Fonte: BAG. Journal of basic and applied genetics Publicador: BAG. Journal of basic and applied genetics
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/06/2008 Português
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Bovine presents a complex genome due to high number of repetitive sequences involved in macro and micro-rearrangements that are essential in the bovids evolution. However, it has a morphologically simple karyotype, with acrocentric autosomes (2n=60,XX and 60,XY). The Robertsonian translocation rob(1;29), which produces embryo mortality, has been widely described in different breeds of Bos taurus but the complexity of its mechanism and its consequences in chromatin changes, are still not clear. Clastogenic agents are used as an approach to study this rearrangement in chromatin structure. Particularly, the aphidicolin (APC) inhibits the eukaryotic DNA polymerase alpha during replication. This fact permit to identify regions rich in dCTP due to a competition and spreading of the enzyme. Lymphocyte macro culture of 2 female Uruguayan Creole cattle carriers of rob(1;29) were APC-inducted (0,3uM) in one cell cycle. A new break point, rob(1;29)p13/21 (relative distance: p2c/p1=0.45), is located in a late replication region (RBG- band). Two fragile sites (c-fra) in the long arm of rob(1;29) (q13/ 21 and q43) and two other c-fra in BTAX (q12 and q31) were scored. C-fra: rob(1:29)q13/21 y Xq12 were located proximal to centromere in later replication region while rob(1;29)q43 and Xq31 were located proximal to telomere in early replication region. A high incidence in c-fra proximal to centromere in both biarmed chromosomes (BTAXc2=11.3 P<0.001; rob(1;29)c2=4.66P<0.05) was found. Comparing APC-effect: BTA1q13/21 and rob(1;29)q13/21...