2,083 research outputs found

    Study of two bipolar susceptibility genes: Slynar and IGF1

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    Linkage studies have implicated the 12q22-24 region in susceptibility to bipolar disorder. In this region alleles at the “Slynar” and Insulin Like Growth Factor 1 (IGF1) genes showed association with bipolar disorder. The Slynar gene is contained within a region of 278 kb on chromosome 12q24 and expresses the sequence AY070435 in the human brain. AY070435 has no known function. A Macaque brain expressed cDNA which is highly homologous to human AY070435 has been cloned and sequenced. To further characterise the human Slynar gene and expressed mRNA transcript studies were carried out to identify Slynar in the mouse and in human neuroblastoma cell lines. Exhaustive efforts were taken to find a mouse homologue but these proved negative. Slynar shared no homology, or partial homology with any other gene in the human genome. The other 12q24 bipolar susceptibility gene IGF1 is highly expressed in the human brain and a well known for its neuromodulatory functions. IGF1 protein has been shown to have an antidepressant and anxiolytic-like effect in the mouse brain. On a genome wide association study (GWAS) with the UCL case control sample, IGF1 was found to be associated to disease with 5 SNPs showing association within the gene. In order to further implicate IGF1 and find the aetiological base pair changes responsible for disease, IGF1 was sequenced. New three new non database SNPs, three previously characterised polymorphisms and a CA repeat were found and genotyped in an extended UCL sample of 1,000 cases and 1,000 controls. One of the novel SNPs and the CA repeat, both located in the promoter region, were associated with bipolar disorder. Haplotype analysis of the GWAS and new markers data confirmed association to bipolar disorder

    Variants of transcription factor 7-like 2 (TCF7L2) gene and incident glucose intolerance in Japanese-Brazilians

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    Common variants of the transcription factor 7-like 2 (TCF7L2) gene have been found to be associated with type 2 diabetes in different ethnic groups. The Japanese-Brazilian population has one of the highest prevalence rates of diabetes. Therefore, the aim of the present study was to assess whether two single-nucleotide polymorphisms (SNPs) of TCF7L2, rs7903146 and rs12255372, could predict the development of glucose intolerance in Japanese-Brazilians. In a population-based 7-year prospective study, we genotyped 222 individuals (72 males and 150 females, aged 56.2 ± 10.5 years) with normal glucose tolerance at baseline. In the study population, we found that the minor allele frequency was 0.05 for SNP rs7903146 and 0.03 for SNP rs12255372. No significant allele or genotype association with glucose intolerance incidence was found for either SNP. Haplotypes were constructed with these two SNPs and three haplotypes were defined: CG (frequency: 0.94), TT (frequency = 0.027) and TG (frequency = 0.026). None of the haplotypes provided evidence for association with the incidence of glucose intolerance. Despite no associations between incidence of glucose intolerance and SNPs of the TCF7L2 gene in Japanese-Brazilians, we found that carriers of the CT genotype for rs7903146 had significantly lower insulin levels 2 h after a 75-g glucose load than carriers of the CC genotype. In conclusion, in Japanese-Brazilians, a population with a high prevalence of type 2 diabetes, common TCF7L2 variants did not make major contributions to the incidence of glucose tolerance abnormalities

    Stepwise pathway for early evolutionary assembly of dissimilatory sulfite and sulfate reduction

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    Funding Information: FLS and SN acknowledge support from the Wiener Wissenschafts, Forschungs- und Technologiefonds (Austria) through the grant VRG15-007. FLS gratefully acknowledges funding from the European Research Council (ERC) under the European Union’s Horizon 2020 Research and Innovation program (grant agreement 803768). IACP acknowledges support from Fundação para a Ciência e Tecnologia (Portugal) through grants PTDC/BIA-MIC/6512/2014 and PTDC/BIA-BQM/29118/2017, R&D unit MOSTMICRO-ITQB (UIDB/04612/2020 and UIDP/04612/2020), and LS4FUTURE Associated Laboratory (LA/P/0087/2020). The computational results of this work have been achieved using the Life Science Compute Cluster (LiSC) of the University of Vienna. Funding Information: FLS and SN acknowledge support from the Wiener Wissenschafts, Forschungs- und Technologiefonds (Austria) through the grant VRG15-007. FLS gratefully acknowledges funding from the European Research Council (ERC) under the European Union’s Horizon 2020 Research and Innovation program (grant agreement 803768). IACP acknowledges support from Fundação para a Ciência e Tecnologia (Portugal) through grants PTDC/BIA-MIC/6512/2014 and PTDC/BIA-BQM/29118/2017, R&D unit MOSTMICRO-ITQB (UIDB/04612/2020 and UIDP/04612/2020), and LS4FUTURE Associated Laboratory (LA/P/0087/2020). The computational results of this work have been achieved using the Life Science Compute Cluster (LiSC) of the University of Vienna. Publisher Copyright: © 2023, The Author(s).Microbial dissimilatory sulfur metabolism utilizing dissimilatory sulfite reductases (Dsr) influenced the biochemical sulfur cycle during Earth’s history and the Dsr pathway is thought to be an ancient metabolic process. Here we performed comparative genomics, phylogenetic, and synteny analyses of several Dsr proteins involved in or associated with the Dsr pathway across over 195,000 prokaryotic metagenomes. The results point to an archaeal origin of the minimal DsrABCMK(N) protein set, having as primordial function sulfite reduction. The acquisition of additional Dsr proteins (DsrJOPT) increased the Dsr pathway complexity. Archaeoglobus would originally possess the archaeal-type Dsr pathway and the archaeal DsrAB proteins were replaced with the bacterial reductive-type version, possibly at the same time as the acquisition of the QmoABC and DsrD proteins. Further inventions of two Qmo complex types, which are more spread than previously thought, allowed microorganisms to use sulfate as electron acceptor. The ability to use the Dsr pathway for sulfur oxidation evolved at least twice, with Chlorobi and Proteobacteria being extant descendants of these two independent adaptations.publishersversioninpres

    Influence of sustained deficit irrigation and foliar kaolin application on almond kernel composition

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    Deficit irrigation and kaolin foliar application are agronomic practices that have been demonstrated to improve productivity and physiological response in almond trees but there is no consistent information on the effects on the kernel composition. The objective of this study was to evaluate the effect of different Sustainable Deficit Irrigation (SDI) strategies and kaolin application on some physicochemical composition of the cv Ferragn`es almond (Prunus dulcis (Mill.) D.A. Webb). A randomized block design with five treatments was developed: nonirrigation (NI), non-irrigation with foliar kaolin application (NI+K), full irrigation (FI), and two levels of SDI receiving 70% and 35% of evapotranspiration (SDI75 and SDI35). Pomological parameters, volatile profile and oil composition were analyzed. SDI effect on kernel weight was reduced against full irrigation (FI) but substantially improved in comparison with the rainfed treatments (NI and NI+K). Irrigation treatments showed a lower volatile compounds concentration in comparison with rainfed treatment. The fatty acid composition of the oil was significantly affected, with all the irrigated treatments having higher oleic acid contents than the rainfed treatments, and therefore an expected increased shelf life. Kaolin application had no positive effects on the nonirrigated trees, other than an apparent increase in the total volatiles, a tendency also observed in the NI. Moderate water stress levels (SDI35) improved the synthesis of tocopherols compared to NI, FI and SDI70, which could be related to the adaptation of the almond tree to drought. SDI35 is therefore regarded as a very interesting approach, with significant improvements in comparison with non-irrigated trees, and a clear saving on water against full irrigation without significant pomological and chemical alterations.The authors acknowledge the financial support of Foundation for Science and Technology (FCT, Portugal) for financial support through national funds FCT/MCTES (PIDDAC) to CIMO (UIDB/00690/2020 and UIDP/00690/2020), SusTEC (LA/P/0007/2021) and LAQV (UIDB/ 50006/2020 and UIDP/50006/2020). David Barreales thanks FCT for the Ph.D. grant SFRH/BD/139393/2018. This manuscript is part of David Barreales’s Ph.D. thesis. The authors thank to the Cooperativa Agrícola de Alfandega da F´e, Crl. for allowing this research activity in its almond orchards.info:eu-repo/semantics/publishedVersio

    Bargaining regimes and wages in Portugal

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    In this paper we analyse the bargaining regime wage-effect in Portugal. The results indicate that the bargaining regime coverage is important in explain- ing the variability of wages. Wage differentials between bargaining regimes are substantial, a fact which may be related to a decentralised wage setting which pre- vails in Portugal. The highest wages are generated by multi-firm negotiations and the lowest are generated by sectoral contracts. Single-firm contracts align at an intermediate level in the ranking.Financial support from program PRAXIS XXI under grant PRAXIS/2/2.1/CSH/781/95 and FEDER is acknowledged. The third author also acknowledges financial support from program PRAXIS XXI under grant BD/3486/94 and from the University of the Azores.info:eu-repo/semantics/publishedVersio

    Spatial analysis of caries experience in population of teens, adults, and elderly people in the state of São Paulo : data from SB SP 2015

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    Estimate the prevalence and gravity of coronal dental caries for populations of adolescents, adults and elderly people. For the crossing of data of the average DMF rates by Regional Health Directorate (RHD) with the digital cartographical base, municipals were grouped by RHD, and the connection between the two bases was formed by a common code or "primary key" in the TerraView® software program (version 4.2.1). The distribution of the DMF average for the teen population was the worst for RHD 8, while RHDs 4, 7 and 14 had lower averages. For the adult population, RHDs 4 and 12 presented the lowest DMF averages. On the other hand, RHDs 8, 13, and 16 had the worst results. For the elderly population, the RHD 4 presented the lowest average, and RHD 9 the highest DMF rate for this population. The differences in DMF averages among the RHDs and the populations studied showed that it is necessary to plan different locoregional oral health actions to face the severe clinical state exposed, since its spatial distribution is disparate, with concentrations of cases in certain regions for all age groups studied3311621CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO - CNPQFUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO - FAPESP0966/1514/50109-

    Herbicide Selectivity In The Early Development Of Alexander Palm And Peach Palm

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    Herbicides are an efficient weed-control method, and herbicide selectivity with regard to palm species is an important subject of agricultural research. Owing to a lack of studies in the literature regarding the use of herbicides on palm trees, especially during the early stages of growth, the present study aimed to evaluate the selectivity of some herbicides during the early development of Alexander palm (Archontophoenix alexandrae) and peach palm (Bactris gasipaes) seedlings. The study was conducted in two seasons in a completely randomized design with eight treatments and four repetitions. The herbicide treatments and dosages (g i.a. ha-1), were as follows: fluazifop-p-butyl (93.8), sethoxydim (184.0), quizalofop-p-ethyl (75.0) clethodim + fenoxaprop-p-ethyl (50.0 + 50.0), fomesafen (225.0), lactofen (168.0), and nicosulfuron (50.0), and a no-herbicide control was included. The seedlings of both types of trees were transplanted into 3.1-L plastic containers. In the first study, herbicide was applied to Alexander palm seedlings of 25-30 cm in height. In the second study, herbicide was applied to Alexander palm seedlings of 30-40 cm in height. Herbicide was applied to peach palm tree seedlings of 40-55 cm in height in both studies. In peach palms only, the herbicides caused slight visible damage during early development. Collectively, the results suggested that all herbicides used are selective and can be used on peach palms during the various stages of development when there are one to four leaves. For Alexander palms, fluazifop-p-butyl, quizalofop-p-ethyl, and lactofen were the only herbicides that did not affect early development during the stages when the plant had one to four leaves.3752891290

    Distribution of mercury in the upper sediments from a polluted area (Ria de Aveiro, Portugal)

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    This work reports levels of Hg, Fe and Mn and sulphides in the upper sediments of the Laranjo Basin, and examines the influence of these elements on the distribution of mercury

    Nitric oxide synthesis and biological functions of nitric oxide released from ruthenium compounds

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    During three decades, an enormous number of studies have demonstrated the critical role of nitric oxide (NO) as a second messenger engaged in the activation of many systems including vascular smooth muscle relaxation. The underlying cellular mechanisms involved in vasodilatation are essentially due to soluble guanylyl-cyclase (sGC) modulation in the cytoplasm of vascular smooth cells. sGC activation culminates in cyclic GMP (cGMP) production, which in turn leads to protein kinase G (PKG) activation. NO binds to the sGC heme moiety, thereby activating this enzyme. Activation of the NO-sGC-cGMP-PKG pathway entails Ca2+ signaling reduction and vasodilatation. Endothelium dysfunction leads to decreased production or bioavailability of endogenous NO that could contribute to vascular diseases. Nitrosyl ruthenium complexes have been studied as a new class of NO donors with potential therapeutic use in order to supply the NO deficiency. In this context, this article shall provide a brief review of the effects exerted by the NO that is enzymatically produced via endothelial NO-synthase (eNOS) activation and by the NO released from NO donor compounds in the vascular smooth muscle cells on both conduit and resistance arteries, as well as veins. In addition, the involvement of the nitrite molecule as an endogenous NO reservoir engaged in vasodilatation will be described

    Social capital and factors associated with the caries experience in adults : a population-based study in Brazil

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    The objective of this study was to investigate the experience of caries related to social capital and associated factors in adults in large-scale population-based study. A Cross-sectional study was performed in 163 municipalities in the State of São Paulo, Brazil (SBSP-2015). 17,560 people were evaluated, of which 6051 were adults aged 35-44 years. Hierarchical logistic regression analysis was proposed. Outcome variables (decayed teeth, missing teeth and DMFT) and independent variables were included in the model, considering the distal (income and schooling); intermediate (social capital) and proximal levels (sex and ethnicity). Results showed that income up to 1,500 reais - US$ 367.6 in 11/11/2019 - (OR = 1.91;1.75-2.08), schooling up to 8 years (OR = 1.32;1.12-1.56) and non-white ethnicity (OR = 1.54;1.35-1.76) were more likely to have decayed teeth. Income up to 1500 reais (OR = 1.29;1.15-1.44), schooling up to 8 years (OR = 2.13;1.90-2.38), low social capital (OR = 1.84;1.65-2.04), medium social capital (OR = 1.15;1.01-1.30) and females were more likely to have lost teeth (OR = 1.13;1.03-1.23). Schooling up to 8 years (OR = 1.51;1.35-1.69), low social capital (OR = 1.25; 1.14-1.37) and female (OR = 1.40,1.19-1.53) were associated with DMFT. It was concluded that sociodemographic factors and low social capital were associated with the experience of caries, which should be taken into account in the formulation of public policies3
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