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1.
  • Schael, S., et al. (författare)
  • Electroweak measurements in electron positron collisions at W-boson-pair energies at LEP
  • 2013
  • Ingår i: Physics Reports. - : Elsevier BV. - 0370-1573 .- 1873-6270. ; 532:4, s. 119-244
  • Forskningsöversikt (refereegranskat)abstract
    • Electroweak measurements performed with data taken at the electron positron collider LEP at CERN from 1995 to 2000 are reported. The combined data set considered in this report corresponds to a total luminosity of about 3 fb(-1) collected by the four LEP experiments ALEPH, DELPHI, 13 and OPAL, at centre-of-mass energies ranging from 130 GeV to 209 GeV. Combining the published results of the four LEP experiments, the measurements include total and differential cross-sections in photon-pair, fermion-pair and four-fermion production, the latter resulting from both double-resonant WW and ZZ production as well as singly resonant production. Total and differential cross-sections are measured precisely, providing a stringent test of the Standard Model at centre-of-mass energies never explored before in electron positron collisions. Final-state interaction effects in four-fermion production, such as those arising from colour reconnection and Bose Einstein correlations between the two W decay systems arising in WW production, are searched for and upper limits on the strength of possible effects are obtained. The data are used to determine fundamental properties of the W boson and the electroweak theory. Among others, the mass and width of the W boson, m(w) and Gamma(w), the branching fraction of W decays to hadrons, B(W -> had), and the trilinear gauge-boson self-couplings g(1)(Z), K-gamma and lambda(gamma), are determined to be: m(w) = 80.376 +/- 0.033 GeV Gamma(w) = 2.195 +/- 0.083 GeV B(W -> had) = 67.41 +/- 0.27% g(1)(Z) = 0.984(-0.020)(+0.018) K-gamma - 0.982 +/- 0.042 lambda(gamma) = 0.022 +/- 0.019. (C) 2013 Elsevier B.V. All rights reserved.
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2.
  • Klionsky, Daniel J., et al. (författare)
  • Guidelines for the use and interpretation of assays for monitoring autophagy
  • 2012
  • Ingår i: Autophagy. - : Informa UK Limited. - 1554-8635 .- 1554-8627. ; 8:4, s. 445-544
  • Forskningsöversikt (refereegranskat)abstract
    • In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues to be confusion regarding acceptable methods to measure autophagy, especially in multicellular eukaryotes. A key point that needs to be emphasized is that there is a difference between measurements that monitor the numbers or volume of autophagic elements (e.g., autophagosomes or autolysosomes) at any stage of the autophagic process vs. those that measure flux through the autophagy pathway (i.e., the complete process); thus, a block in macroautophagy that results in autophagosome accumulation needs to be differentiated from stimuli that result in increased autophagic activity, defined as increased autophagy induction coupled with increased delivery to, and degradation within, lysosomes (in most higher eukaryotes and some protists such as Dictyostelium) or the vacuole (in plants and fungi). In other words, it is especially important that investigators new to the field understand that the appearance of more autophagosomes does not necessarily equate with more autophagy. In fact, in many cases, autophagosomes accumulate because of a block in trafficking to lysosomes without a concomitant change in autophagosome biogenesis, whereas an increase in autolysosomes may reflect a reduction in degradative activity. Here, we present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes. These guidelines are not meant to be a formulaic set of rules, because the appropriate assays depend in part on the question being asked and the system being used. In addition, we emphasize that no individual assay is guaranteed to be the most appropriate one in every situation, and we strongly recommend the use of multiple assays to monitor autophagy. In these guidelines, we consider these various methods of assessing autophagy and what information can, or cannot, be obtained from them. Finally, by discussing the merits and limits of particular autophagy assays, we hope to encourage technical innovation in the field.
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3.
  • Ageron, M., et al. (författare)
  • ANTARES : The first undersea neutrino telescope
  • 2011
  • Ingår i: Nuclear Instruments and Methods in Physics Research Section A. - : Elsevier. - 0168-9002 .- 1872-9576. ; 656:1, s. 11-38
  • Tidskriftsartikel (refereegranskat)abstract
    • The ANTARES Neutrino Telescope was completed in May 2008 and is the first operational Neutrino Telescope in the Mediterranean Sea. The main purpose of the detector is to perform neutrino astronomy and the apparatus also offers facilities for marine and Earth sciences. This paper describes the design, the construction and the installation of the telescope in the deep sea, offshore from Toulon in France. An illustration of the detector performance is given. (C) 2011 Elsevier B.V. All rights reserved.
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4.
  • Abdallah, J., et al. (författare)
  • Measurements of CP-conserving trilinear gauge boson couplings WWV (V gamma, Z) in e(+)e(-) collisions at LEP2
  • 2010
  • Ingår i: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 66:1-2, s. 35-56
  • Tidskriftsartikel (refereegranskat)abstract
    • The data taken by DELPHI at centre-of-mass energies between 189 and 209 GeV are used to place limits on the CP-conserving trilinear gauge boson couplings Delta g(1)(Z), lambda(gamma) and Delta k(gamma) associated to W+W- and single W production at LEP2. Using data from the jjl nu, jjjj, jjX and lX final states, where j,l and X represent a jet, a lepton and missing four-momentum, respectively, the following limits are set on the couplings when one parameter is allowed to vary and the others are set to their Standard Model values of zero: Delta g(1)(Z) =-0.025-(+0.033)(0.030,), lambda(gamma) = 0.002(-0.035)(+0.035) and Delta k(gamma) = 0.024(-0.081)(+0.077). Results are also presented when two or three parameters are allowed to vary. All observations are consistent with the predictions of the Standard Model and supersede the previous results on these gauge coupling parameters published by DELPHI.
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5.
  • Abdallah, J., et al. (författare)
  • Study of the dependence of direct soft photon production on the jet characteristics in hadronic Z (0) decays
  • 2010
  • Ingår i: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 67:3-4, s. 343-366
  • Tidskriftsartikel (refereegranskat)abstract
    • An analysis of the direct soft photon production rate as a function of the parent jet characteristics is presented, based on hadronic events collected by the DELPHI experiment at LEP1. The dependences of the photon rates on the jet kinematic characteristics (momentum, mass, etc.) and on the jet charged, neutral and total hadron multiplicities are reported. Up to a scale factor of about four, which characterizes the overall value of the soft photon excess, a similarity of the observed soft photon behavior to that of the inner hadronic bremsstrahlung predictions is found for the momentum, mass, and jet charged multiplicity dependences. However for the dependence of the soft photon rate on the jet neutral and total hadron multiplicities a prominent difference is found for the observed soft photon signal as compared to the expected bremsstrahlung from final state hadrons. The observed linear increase of the soft photon production rate with the jet total hadron multiplicity and its strong dependence on the jet neutral multiplicity suggest that the rate is proportional to the number of quark pairs produced in the fragmentation process, with the neutral pairs being more effectively radiating than the charged ones.
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6.
  • Abdallah, J., et al. (författare)
  • A study of the b-quark fragmentation function with the DELPHI detector at LEP I and an averaged distribution obtained at the Z Pole
  • 2011
  • Ingår i: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 71:2, s. 1557-
  • Tidskriftsartikel (refereegranskat)abstract
    • The nature of b-quark jet hadronisation has been investigated using data taken at the Z peak by the DELPHI detector at LEP. Two complementary methods are used to reconstruct the energy of weakly decaying b-hadrons, E-B(weak). The average value of x(B)(weak) = E-B(weak)/E-beam is measured to be 0.699 +/- 0.011. The resulting x(B)(weak) distribution is then analysed in the framework of two choices for the perturbative contribution (parton shower and Next to Leading Log QCD calculation) in order to extract measurements of the non-perturbative contribution to be used in studies of b-hadron production in other experimental environments than LEP. In the parton shower framework, data favour the Lund model ansatz and corresponding values of its parameters have been determined within PYTHIA 6.156 from DELPHI data: a = 1.84(-0.21)(+0.23) and b = 0.642(-0.063)(+0.073) GeV-2, with a correlation factor rho = 92.2%. Combining the data on the b-quark fragmentation distributions with those obtained at the Z peak by ALEPH, OPAL and SLD, the average value of x(B)(weak) is found to be 0.7092 +/- 0.0025 and the non-perturbative fragmentation component is extracted. Using the combined distribution, a better determination of the Lund parameters is also obtained: a = 1.48(-0.10)(+0.11) and b = 0.509(-0.023)(+0.024) GeV-2, with a correlation factor rho = 92.6%.
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7.
  • Abdallah, J., et al. (författare)
  • Measurement of the electron structure function F-2(e) at LEP energies
  • 2014
  • Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 737, s. 39-47
  • Tidskriftsartikel (refereegranskat)abstract
    • The hadronic part of the electron structure function F-2(e) has been measured for the first time, using e(+)e(-) data collected by the DELPHI experiment at LEP, at centre-of-mass energies of root s = 91.2-209.5 GeV. The data analysis is simpler than that of the measurement of the photon structure function. The electron structure function F-2(e) data are compared to predictions of phenomenological models based on the photon structure function. It is shown that the contribution of large target photon virtualities is significant. The data presented can serve as a cross-check of the photon structure function F-2(gamma) analyses and help in refining existing parameterisations.
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8.
  • Abdallah, J., et al. (författare)
  • Search for single top quark production via contact interactions at LEP2
  • 2011
  • Ingår i: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 71:2, s. 1555-
  • Tidskriftsartikel (refereegranskat)abstract
    • Single top quark production via four-fermion contact interactions associated to flavour-changing neutral currents was searched for in data taken by the DELPHI detector at LEP2. The data were accumulated at centre-of-mass energies ranging from 189 to 209 GeV, with an integrated luminosity of 598.1 pb(-1). No evidence for a signal was found. Limits on the energy scale Lambda, were set for scalar-, vector- and tensor-like coupling scenarios.
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9.
  • Berndt, Sonja I., et al. (författare)
  • Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
  • 2013
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:5, s. 501-U69
  • Tidskriftsartikel (refereegranskat)abstract
    • Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.
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10.
  • Abelev, Betty, et al. (författare)
  • Long-range angular correlations on the near and away side in p-Pb collisions at root S-NN=5.02 TeV
  • 2013
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 719:1-3, s. 29-41
  • Tidskriftsartikel (refereegranskat)abstract
    • Angular correlations between charged trigger and associated particles are measured by the ALICE detector in p-Pb collisions at a nucleon-nucleon centre-of-mass energy of 5.02 TeV for transverse momentum ranges within 0.5 < P-T,P-assoc < P-T,P-trig < 4 GeV/c. The correlations are measured over two units of pseudorapidity and full azimuthal angle in different intervals of event multiplicity, and expressed as associated yield per trigger particle. Two long-range ridge-like structures, one on the near side and one on the away side, are observed when the per-trigger yield obtained in low-multiplicity events is subtracted from the one in high-multiplicity events. The excess on the near-side is qualitatively similar to that recently reported by the CMS Collaboration, while the excess on the away-side is reported for the first time. The two-ridge structure projected onto azimuthal angle is quantified with the second and third Fourier coefficients as well as by near-side and away-side yields and widths. The yields on the near side and on the away side are equal within the uncertainties for all studied event multiplicity and p(T) bins, and the widths show no significant evolution with event multiplicity or p(T). These findings suggest that the near-side ridge is accompanied by an essentially identical away-side ridge. (c) 2013 CERN. Published by Elsevier B.V. All rights reserved.
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11.
  • Abelev, Betty, et al. (författare)
  • Measurement of prompt J/psi and beauty hadron production cross sections at mid-rapidity in pp collisions at root s=7 TeV
  • 2012
  • Ingår i: Journal of High Energy Physics. - 1029-8479. ; :11
  • Tidskriftsartikel (refereegranskat)abstract
    • The ALICE experiment at the LHC has studied J/psi production at mid-rapidity in pp collisions at root s = 7 TeV through its electron pair decay on a data sample corresponding to an integrated luminosity L-int = 5.6 nb(-1). The fraction of J/psi from the decay of long-lived beauty hadrons was determined for J/psi candidates with transverse momentum p(t) > 1,3 GeV/c and rapidity vertical bar y vertical bar < 0.9. The cross section for prompt J/psi mesons, i.e. directly produced J/psi and prompt decays of heavier charmonium states such as the psi(2S) and chi(c) resonances, is sigma(prompt J/psi) (p(t) > 1.3 GeV/c, vertical bar y vertical bar < 0.9) = 8.3 +/- 0.8(stat.) +/- 1.1 (syst.)(-1.4)(+1.5) (syst. pol.) mu b. The cross section for the production of b-hadrons decaying to J/psi with p(t) > 1.3 GeV/c and vertical bar y vertical bar < 0.9 is a sigma(J/psi <- hB) (p(t) > 1.3 GeV/c, vertical bar y vertical bar < 0.9) = 1.46 +/- 0.38 (stat.)(-0.32)(+0.26) (syst.) mu b. The results are compared to QCD model predictions. The shape of the p(t) and y distributions of b-quarks predicted by perturbative QCD model calculations are used to extrapolate the measured cross section to derive the b (b) over bar pair total cross section and d sigma/dy at mid-rapidity.
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12.
  • Abelev, Betty, et al. (författare)
  • Underlying Event measurements in pp collisions at root s=0.9 and 7 TeV with the ALICE experiment at the LHC
  • 2012
  • Ingår i: Journal of High Energy Physics. - 1029-8479. ; :7
  • Tidskriftsartikel (refereegranskat)abstract
    • We present measurements of Underlying Event observables in pp collisions at root s = 0 : 9 and 7 TeV. The analysis is performed as a function of the highest charged-particle transverse momentum p(T),L-T in the event. Different regions are defined with respect to the azimuthal direction of the leading (highest transverse momentum) track: Toward, Transverse and Away. The Toward and Away regions collect the fragmentation products of the hardest partonic interaction. The Transverse region is expected to be most sensitive to the Underlying Event activity. The study is performed with charged particles above three different p(T) thresholds: 0.15, 0.5 and 1.0 GeV/c. In the Transverse region we observe an increase in the multiplicity of a factor 2-3 between the lower and higher collision energies, depending on the track p(T) threshold considered. Data are compared to PYTHIA 6.4, PYTHIA 8.1 and PHOJET. On average, all models considered underestimate the multiplicity and summed p(T) in the Transverse region by about 10-30%.
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13.
  • Anderson, Cynthia M., et al. (författare)
  • Permanent Genetic Resources added to Molecular Ecology Resources Database 1 December 2009-31 January 2010
  • 2010
  • Ingår i: Molecular Ecology Resources. - : Wiley. - 1755-098X .- 1755-0998. ; 10:3, s. 576-579
  • Tidskriftsartikel (refereegranskat)abstract
    • This article documents the addition of 220 microsatellite marker loci to the Molecular Ecology Resources Database. Loci were developed for the following species: Allanblackia floribunda, Amblyraja radiata, Bactrocera cucurbitae, Brachycaudus helichrysi, Calopogonium mucunoides, Dissodactylus primitivus, Elodea canadensis, Ephydatia fluviatilis, Galapaganus howdenae howdenae, Hoplostethus atlanticus, Ischnura elegans, Larimichthys polyactis, Opheodrys vernalis, Pelteobagrus fulvidraco, Phragmidium violaceum, Pistacia vera, and Thunnus thynnus. These loci were cross-tested on the following species: Allanblackia gabonensis, Allanblackia stanerana, Neoceratitis cyanescens, Dacus ciliatus, Dacus demmerezi, Bactrocera zonata, Ceratitis capitata, Ceratitis rosa, Ceratits catoirii, Dacus punctatifrons, Ephydatia mulleri, Spongilla lacustris, Geodia cydonium, Axinella sp., Ischnura graellsii, Ischnura ramburii, Ischnura pumilio, Pistacia integerrima and Pistacia terebinthus.
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14.
  • Bossini-Castillo, Lara, et al. (författare)
  • A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort
  • 2011
  • Ingår i: Annals of the Rheumatic Diseases. - : BMJ. - 1468-2060 .- 0003-4967. ; 70:4, s. 638-641
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives The aim of this study was to confirm the influence of TNFSF4 polymorphisms on systemic sclerosis (SSc) susceptibility and phenotypic features. Methods A total of 8 European populations of Caucasian ancestry were included, comprising 3014 patients with SSc and 3125 healthy controls. Four genetic variants of TNFSF4 gene promoter (rs1234314, rs844644, rs844648 and rs12039904) were selected as genetic markers. Results A pooled analysis revealed the association of rs1234314 and rs12039904 polymorphisms with SSc (OR 1.15, 95% CI 1.02 to 1.31; OR 1.18, 95% CI 1.08 to 1.29, respectively). Significant association of the four tested variants with patients with limited cutaneous SSc (lcSSc) was revealed (rs1234314 OR 1.22, 95% CI 1.07 to 1.38; rs844644 OR 0.91, 95% CI 0.83 to 0.99; rs844648 OR 1.10, 95% CI 1.01 to 1.20 and rs12039904 OR 1.20, 95% CI 1.09 to 1.33). Association of rs1234314, rs844648 and rs12039904 minor alleles with patients positive for anti-centromere antibodies (ACA) remained significant (OR 1.23, 95% CI 1.10 to 1.37; OR 1.12, 95% CI 1.01 to 1.25; OR 1.22, 95% CI 1.07 to 1.38, respectively). Haplotype analysis confirmed a protective haplotype associated with SSc, lcSSc and ACA positive subgroups (OR 0.88, 95% CI 0.82 to 0.96; OR 0.88, 95% CI 0.80 to 0.96; OR 0.86, 95% CI 0.77 to 0.97, respectively) and revealed a new risk haplotype associated with the same groups of patients (OR 1.14, 95% CI 1.03 to 1.26; OR 1.20, 95% CI 1.08 to 1.35; OR 1.23, 95% CI 1.07 to 1.42, respectively). Conclusions The data confirm the influence of TNFSF4 polymorphisms in SSc genetic susceptibility, especially in subsets of patients positive for lcSSc and ACA.
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15.
  • Sawcer, Stephen, et al. (författare)
  • Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
  • 2011
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 476:7359, s. 214-219
  • Tidskriftsartikel (refereegranskat)abstract
    • Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis.
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16.
  • Antoniou, Antonis C., et al. (författare)
  • A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population
  • 2010
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 42:10, s. 885-892
  • Tidskriftsartikel (refereegranskat)abstract
    • Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 mutations who were diagnosed with invasive breast cancer under age 40 and 1,190 BRCA1 carriers without breast cancer diagnosis over age 35. We took forward 96 SNPs for replication in another 5,986 BRCA1 carriers (2,974 individuals with breast cancer and 3,012 unaffected individuals). Five SNPs on 19p13 were associated with breast cancer risk (P-trend = 2.3 x 10(-9) to Ptrend = 3.9 x 10(-7)), two of which showed independent associations (rs8170, hazard ratio (HR) = 1.26, 95% CI 1.17-1.35; rs2363956 HR = 0.84, 95% CI 0.80-0.89). Genotyping these SNPs in 6,800 population-based breast cancer cases and 6,613 controls identified a similar association with estrogen receptor-negative breast cancer (rs2363956 per-allele odds ratio (OR) = 0.83, 95% CI 0.75-0.92, P-trend = 0.0003) and an association with estrogen receptor-positive disease in the opposite direction (OR = 1.07, 95% CI 1.01-1.14, P-trend = 0.016). The five SNPs were also associated with triple-negative breast cancer in a separate study of 2,301 triple-negative cases and 3,949 controls (Ptrend = 1 x 10(-7) to Ptrend = 8 x 10(-5); rs2363956 per-allele OR = 0.80, 95% CI 0.74-0.87, P-trend = 1.1 x 10(-7)).
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17.
  • Ding, Yuan C, et al. (författare)
  • A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers
  • 2012
  • Ingår i: Cancer Epidemiology, Biomarkers and Prevention. - : American Association for Cancer Research. - 1055-9965 .- 1538-7755. ; 21:8, s. 1362-1370
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: We previously reported significant associations between genetic variants in insulin receptor substrate 1 (IRS1) and breast cancer risk in women carrying BRCA1 mutations. The objectives of this study were to investigate whether the IRS1 variants modified ovarian cancer risk and were associated with breast cancer risk in a larger cohort of BRCA1 and BRCA2 mutation carriers.METHODS: IRS1 rs1801123, rs1330645, and rs1801278 were genotyped in samples from 36 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Data were analyzed by a retrospective cohort approach modeling the associations with breast and ovarian cancer risks simultaneously. Analyses were stratified by BRCA1 and BRCA2 status and mutation class in BRCA1 carriers.RESULTS: Rs1801278 (Gly972Arg) was associated with ovarian cancer risk for both BRCA1 (HR, 1.43; 95% confidence interval (CI), 1.06-1.92; P = 0.019) and BRCA2 mutation carriers (HR, 2.21; 95% CI, 1.39-3.52, P = 0.0008). For BRCA1 mutation carriers, the breast cancer risk was higher in carriers with class II mutations than class I mutations (class II HR, 1.86; 95% CI, 1.28-2.70; class I HR, 0.86; 95%CI, 0.69-1.09; P(difference), 0.0006). Rs13306465 was associated with ovarian cancer risk in BRCA1 class II mutation carriers (HR, 2.42; P = 0.03).CONCLUSION: The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like growth factor and insulin signaling, modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers and breast cancer risk in BRCA1 class II mutation carriers.Impact: These findings may prove useful for risk prediction for breast and ovarian cancers in BRCA1 and BRCA2 mutation carriers.
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18.
  • Martrat, Griselda, et al. (författare)
  • Exploring the link between MORF4L1 and risk of breast cancer
  • 2011
  • Ingår i: Breast Cancer Research. - : Springer Science and Business Media LLC. - 1465-5411 .- 1465-542X. ; 13:2
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. Methods: Protein physical interactions were screened using the yeast two-hybrid system. Co-affinity purifications and endogenous co-immunoprecipitation assays were performed to corroborate interactions. Biochemical and functional assays in human, mouse and Caenorhabditis elegans models were carried out to characterize pathway components. Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in the downstream pathway components and 300 familial BrCa patients negative for BRCA1/2 mutations were analyzed for genetic mutations. Common genetic variants were genotyped in 9,573 BRCA1/2 mutation carriers for associations with BrCa risk. Results: A previously identified co-purifying protein with PALB2 was identified, MRG15 (MORF4L1 gene). Results in human, mouse and C. elegans models delineate molecular and functional relationships with BRCA2, PALB2, RAD51 and RPA1 that suggest a role for MRG15 in the repair of DNA double-strand breaks. Mrg15-deficient murine embryonic fibroblasts showed moderate sensitivity to g-irradiation relative to controls and reduced formation of Rad51 nuclear foci. Examination of mutants of MRG15 and BRCA2 C. elegans orthologs revealed phenocopy by accumulation of RPA-1 (human RPA1) nuclear foci and aberrant chromosomal compactions in meiotic cells. However, no alterations or mutations were identified for MRG15/MORF4L1 in unclassified FA patients and BrCa familial cases. Finally, no significant associations between common MORF4L1 variants and BrCa risk for BRCA1 or BRCA2 mutation carriers were identified: rs7164529, P-trend = 0.45 and 0.05, P-2df = 0.51 and 0.14, respectively; and rs10519219, P-trend = 0.92 and 0.72, P-2df = 0.76 and 0.07, respectively. Conclusions: While the present study expands on the role of MRG15 in the control of genomic stability, weak associations cannot be ruled out for potential low-penetrance variants at MORF4L1 and BrCa risk among BRCA2 mutation carriers.
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19.
  • Antoniou, Antonis C., et al. (författare)
  • Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
  • 2011
  • Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 20:16, s. 3304-3321
  • Tidskriftsartikel (refereegranskat)abstract
    • Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs11249433 at 1p11.2 and rs999737 in RAD51L1 at 14q24.1. Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. In the analysis of 14 123 BRCA1 and 8053 BRCA2 mutation carriers of European ancestry, the 6q25.1 SNPs (r(2) = 0.14) were independently associated with the risk of breast cancer for BRCA1 mutation carriers [ hazard ratio (HR) = 1.17, 95% confidence interval (CI): 1.11-1.23, P-trend = 4.5 x 10(-9) for rs2046210; HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 x 10(-8) for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01-1.28, P-trend = 0.031). SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women.
  •  
20.
  • Ding, Ding, et al. (författare)
  • Perceived neighborhood environment and physical activity in 11 countries : Do associations differ by country?
  • 2013
  • Ingår i: International Journal of Behavioral Nutrition and Physical Activity. - : Springer Science and Business Media LLC. - 1479-5868. ; 10:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Increasing empirical evidence supports associations between neighborhood environments and physical activity. However, since most studies were conducted in a single country, particularly western countries, the generalizability of associations in an international setting is not well understood. The current study examined whether associations between perceived attributes of neighborhood environments and physical activity differed by country. Methods: Population representative samples from 11 countries on five continents were surveyed using comparable methodologies and measurement instruments. Neighborhood environment x country interactions were tested in logistic regression models with meeting physical activity recommendations as the outcome, adjusted for demographic characteristics. Country-specific associations were reported. Results: Significant neighborhood environment attribute x country interactions implied some differences across countries in the association of each neighborhood attribute with meeting physical activity recommendations. Across the 11 countries, land-use mix and sidewalks had the most consistent associations with physical activity. Access to public transit, bicycle facilities, and low-cost recreation facilities had some associations with physical activity, but with less consistency across countries. There was little evidence supporting the associations of residential density and crime-related safety with physical activity in most countries. Conclusion: There is evidence of generalizability for the associations of land use mix, and presence of sidewalks with physical activity. Associations of other neighborhood characteristics with physical activity tended to differ by country. Future studies should include objective measures of neighborhood environments, compare psychometric properties of reports across countries, and use better specified models to further understand the similarities and differences in associations across countries.
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21.
  • Estrada, Karol, et al. (författare)
  • Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
  • 2012
  • Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 44:5, s. 491-501
  • Tidskriftsartikel (refereegranskat)abstract
    • Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for replication in 50,933 independent subjects and for association with risk of low-trauma fracture in 31,016 individuals with a history of fracture (cases) and 102,444 controls. We identified 56 loci (32 new) associated with BMD at genome-wide significance (P < 5 × 10(-8)). Several of these factors cluster within the RANK-RANKL-OPG, mesenchymal stem cell differentiation, endochondral ossification and Wnt signaling pathways. However, we also discovered loci that were localized to genes not known to have a role in bone biology. Fourteen BMD-associated loci were also associated with fracture risk (P < 5 × 10(-4), Bonferroni corrected), of which six reached P < 5 × 10(-8), including at 18p11.21 (FAM210A), 7q21.3 (SLC25A13), 11q13.2 (LRP5), 4q22.1 (MEPE), 2p16.2 (SPTBN1) and 10q21.1 (DKK1). These findings shed light on the genetic architecture and pathophysiological mechanisms underlying BMD variation and fracture susceptibility.
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22.
  • Gómez-Elvira, J., et al. (författare)
  • REMS : The environmental sensor suite for the Mars Science Laboratory rover
  • 2012
  • Ingår i: Space Science Reviews. - : Springer Science and Business Media LLC. - 0038-6308 .- 1572-9672. ; 170:1-4, s. 583-640
  • Tidskriftsartikel (refereegranskat)abstract
    • The Rover Environmental Monitoring Station (REMS) will investigate environmental factors directly tied to current habitability at the Martian surface during the Mars Science Laboratory (MSL) mission. Three major habitability factors are addressed by REMS: the thermal environment, ultraviolet irradiation, and water cycling. The thermal environment is determined by a mixture of processes, chief amongst these being the meteorological. Accordingly, the REMS sensors have been designed to record air and ground temperatures, pressure, relative humidity, wind speed in the horizontal and vertical directions, as well as ultraviolet radiation in different bands. These sensors are distributed over the rover in four places: two booms located on the MSL Remote Sensing Mast, the ultraviolet sensor on the rover deck, and the pressure sensor inside the rover body. Typical daily REMS observations will collect 180 minutes of data from all sensors simultaneously (arranged in 5 minute hourly samples plus 60 additional minutes taken at times to be decided during the course of the mission). REMS will add significantly to the environmental record collected by prior missions through the range of simultaneous observations including water vapor; the ability to take measurements routinely through the night; the intended minimum of one Martian year of observations; and the first measurement of surface UV irradiation. In this paper, we describe the scientific potential of REMS measurements and describe in detail the sensors that constitute REMS and the calibration procedures. © 2012 Springer Science+Business Media B.V.
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23.
  • Osorio, Ana, et al. (författare)
  • DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
  • 2014
  • Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 10:4
  • Tidskriftsartikel (refereegranskat)abstract
    • Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of BRCA1 and BRCA2 mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of BRCA1 and BRCA2). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p<0.05 in the combined analysis. Four of the five genes for which strongest evidence of association was observed were DNA glycosylases. The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7×10-3) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8×10-3). DNA glycosylases involved in the first steps of the BER pathway may be associated with cancer risk in BRCA1/2 mutation carriers and should be more comprehensively studied.
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24.
  • Østerberg, F. W., et al. (författare)
  • Measurements of Brownian relaxation of magnetic nanobeads using planar Hall effect bridge sensors
  • 2012
  • Ingår i: Biosensors & bioelectronics. - : Elsevier BV. - 0956-5663 .- 1873-4235. ; 40:S1, s. 147-152
  • Tidskriftsartikel (refereegranskat)abstract
    • We compare measurements of the Brownian relaxation response of magnetic nanobeads in suspension using planar Hall effect sensors of cross geometry and a newly proposed bridge geometry. We find that the bridge sensor yields six times as large signals as the cross sensor, which results in a more accurate determination of the hydrodynamic size of the magnetic nanobeads. Finally, the bridge sensor has successfully been used to measure the change in dynamic magnetic response when rolling circle amplified DNA molecules are bound to the magnetic nanobeads. The change is validated by measurements performed in a commercial AC susceptometer. The presented bridge sensor is, thus, a promising component in future lab-on-a-chip biosensors for detection of clinically relevant analytes, including bacterial genomic DNA and proteins.
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25.
  • Adams, Marc A., et al. (författare)
  • Patterns of neighborhood environment attributes related to physical activity across 11 countries : a latent class analysis
  • 2013
  • Ingår i: International Journal of Behavioral Nutrition and Physical Activity. - : Springer Science and Business Media LLC. - 1479-5868. ; 10
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Neighborhood environment studies of physical activity (PA) have been mainly single-country focused. The International Prevalence Study (IPS) presented a rare opportunity to examine neighborhood features across countries. The purpose of this analysis was to: 1) detect international neighborhood typologies based on participants' response patterns to an environment survey and 2) to estimate associations between neighborhood environment patterns and PA. Methods: A Latent Class Analysis (LCA) was conducted on pooled IPS adults (N=11,541) aged 18 to 64 years old (mean=37.5 +/- 12.8 yrs; 55.6% women) from 11 countries including Belgium, Brazil, Canada, Colombia, Hong Kong, Japan, Lithuania, New Zealand, Norway, Sweden, and the U. S. This subset used the Physical Activity Neighborhood Environment Survey (PANES) that briefly assessed 7 attributes within 10-15 minutes walk of participants' residences, including residential density, access to shops/services, recreational facilities, public transit facilities, presence of sidewalks and bike paths, and personal safety. LCA derived meaningful subgroups from participants' response patterns to PANES items, and participants were assigned to neighborhood types. The validated short-form International Physical Activity Questionnaire (IPAQ) measured likelihood of meeting the 150 minutes/week PA guideline. To validate derived classes, meeting the guideline either by walking or total PA was regressed on neighborhood types using a weighted generalized linear regression model, adjusting for gender, age and country. Results: A 5-subgroup solution fitted the dataset and was interpretable. Neighborhood types were labeled, "Overall Activity Supportive (52% of sample)", "High Walkable and Unsafe with Few Recreation Facilities (16%)", "Safe with Active Transport Facilities (12%)", "Transit and Shops Dense with Few Amenities (15%)", and "Safe but Activity Unsupportive (5%)". Country representation differed by type (e. g., U. S. disproportionally represented "Safe but Activity Unsupportive"). Compared to the Safe but Activity Unsupportive, two types showed greater odds of meeting PA guideline for walking outcome (High Walkable and Unsafe with Few Recreation Facilities, OR=2.26 (95% CI 1.18-4.31); Overall Activity Supportive, OR=1.90 (95% CI 1.13-3.21). Significant but smaller odds ratios were also found for total PA. Conclusions: Meaningful neighborhood patterns generalized across countries and explained practical differences in PA. These observational results support WHO/UN recommendations for programs and policies targeted to improve features of the neighborhood environment for PA.
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26.
  • Ahlqvist, Emma, et al. (författare)
  • A link between GIP and osteopontin in adipose tissue and insulin resistance.
  • 2013
  • Ingår i: Diabetes. - : American Diabetes Association. - 1939-327X .- 0012-1797. ; 62:6, s. 2088-2094
  • Tidskriftsartikel (refereegranskat)abstract
    • Low grade inflammation in obesity is associated with accumulation of the macrophagederived cytokine osteopontin in adipose tissue and induction of local as well as systemic insulin resistance. Since GIP (glucose-dependent insulinotropic polypeptide) is a strong stimulator of adipogenesis and may play a role in the development of obesity, we explored whether GIP directly would stimulate osteopontin (OPN) expression in adipose tissue and thereby induce insulin resistance. GIP stimulated OPN protein expression in a dose-dependent fashion in rat primary adipocytes. The level of OPN mRNA was higher in adipose tissue of obese individuals (0.13±}0.04 vs 0.04±}0.01, P<0.05) and correlated inversely with measures of insulin sensitivity (r=-0.24, P=0.001). A common variant of the GIP receptor (GIPR) (rs10423928) gene was associated with lower amount of the exon 9 containing isoform required for transmembrane activity. Carriers of the A-allele with a reduced receptor function showed lower adipose tissue OPN mRNA levels and better insulin sensitivity. Together, these data suggest a role for GIP not only as an incretin hormone, but also as a trigger of inflammation and insulin resistance in adipose tissue. Carriers of GIPR rs10423928 A-allele showed protective properties via reduced GIP effects. Identification of this unprecedented link between GIP and OPN in adipose tissue might open new avenues for therapeutic interventions.
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27.
  • García-Gallego, Sandra, et al. (författare)
  • Polyanionic N-donor ligands as chelating agents in transition metal complexes : synthesis, structural characterization and antiviral properties against HIV
  • 2012
  • Ingår i: Dalton Transactions. - : Royal Society of Chemistry. - 1477-9226 .- 1477-9234. ; 41:21, s. 6488-99
  • Tidskriftsartikel (refereegranskat)abstract
    • We describe here the synthesis and characterization of new sulfonated and carboxylated-containing N-donor ligands [Na(4)(edts)]·4H(2)O (2), [Na(2)(dmeddp)]·2H(2)O (3) and [Na(4)(edtp)]·H(2)O (4) (edts = ethylene-diamine- N,N,N',N'-tetraethylenesulfonate ion; dmeddp = dimethyl-ethylene-diamine-N,N,N',N'-tetra-3-propionate ion; edtp = ethylene-diamine-N,N,N',N'-tetra-3-propionate ion) and their corresponding metal (Ni, Co, Cu and Zn) complexes. Mainly, UV-Vis and a computer aided analysis of the EPR spectra provided information on the geometry and structure of the complexes in solution. Some of the metal complexes inhibit HIV replication when treating both pre- and post-infected PBMC cells, and hustle the inhibitory effect compared to the metal salts alone.
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28.
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29.
  • Gómez, Maria F, 1970-, et al. (författare)
  • Delivering off-grid electricity systems in the Brazilian Amazon
  • 2012
  • Ingår i: Energy for Sustainable Development. - : Elsevier BV. - 0973-0826 .- 2352-4669. ; 16:2, s. 155-167
  • Tidskriftsartikel (refereegranskat)abstract
    • In Brazil, more than 14 million people have benefited from the rural electrification program Luz Para Todos (LPT – Light for all), mainly through grid-extension. A new off-grid model is now required if remote areas in the Amazon region are to fully benefit from the program. In this paper, we explore the institutional and financial schemes that support LPT and their suitability for delivering off-grid solutions in the Amazon region. Our conclusions draw attention to the need for more local and site specific solutions, and new regulatory frameworks to allow the participation of new actors. We argue that the uniqueness of the Amazon region justifies renewable technologies focused on local needs and potential, adaptation of the LPT institutional framework and rethinking of funding channels. An off-grid approach will enhance the inclusion of remote areas in universal access goals while adjustments will help guarantee the sustainability of the electrification program.
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30.
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31.
  • Gómez, Maria F, 1970- (författare)
  • Electricity access for human development in the Brazilian Amazon
  • 2012
  • Licentiatavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • Electricity access is widely recognized as a driver of development. The Brazilian government has incorporated this principle into its national rural electrification program, Luz Para Todos (LPT – Light for all), which has already benefited more than 14 million people in the country since its inception in 2003. But a different electrification model is required if remote areas in the Amazon region are to fully benefit from the program.In general, LPT has been implemented through a grid-based technology. However, the program has been less successful in providing electricity access in the Amazon region. In this region, about 24% of the rural population has no access to electricity. Key challenges are related to the exhaustion of the grid-extension model in isolated areas.  Extending the grid in these areas is neither realistic because of the local topography and natural conditions, nor cost-effective because expensive investments would be required to benefit a small number of citizens with low income and consumption rates.This study suggests an adapted LPT model for delivering electricity access in isolated areas of the Amazon region. In particular, the study offers a policy maker perspective and details the specific needs of isolated communities. It was developed in the form of a case study and included a variety of data sources, gathering techniques and analysis approaches, including an extensive literature review, the collection of in-situ evidence through direct observations and semi- structured interviews.Conclusions draw attention to the need for more local and site-specific solutions. Three issues will be decisive in achieving universal, reliable and affordable access to electricity in the Amazon region. Firstly, harmonization with the regional context is essential as the Amazon is a vast and unique environment. Secondly, there is need for adapting the existing institutional structures to appreciate the conditions and specific needs of rural populations in the Amazon region. Thirdly, securing financial resource allocation and distribution will be decisive in a LPT model aimed at universal electrification in the Amazon.
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32.
  • Gómez, Maria F., et al. (författare)
  • Rural electrification of the Brazilian Amazon - Achievements and lessons
  • 2010
  • Ingår i: Energy Policy. - : Elsevier BV. - 0301-4215 .- 1873-6777. ; 38:10, s. 6251-6260
  • Tidskriftsartikel (refereegranskat)abstract
    • The Brazilian government has the ambition to provide complete electricity coverage for all citizens as a means to promote development and reduce inequalities. Full coverage implies the provision of electricity to 15 million people in the country by the end of 2010 through the program Luz para Todos (LPT - light for all) launched in 2003. So far, 11 million people have benefited, 2 million of which live in the Amazon. In this paper, we analyze the linkages between development and rural electrification through the Human Development Index (HDI) and within the context of the Amazon. We examine the suitability of the HDI as a planning and monitoring tool for improving energy access and development. We show that the recognition of electricity access as a driver for development has led to concrete goals for electrification, actual action and welfare improvement. Our study serves to highlight the role of LPT in the development of the Amazon region, and the specific features and achievements of the Brazilian policy for universal electrification. We conclude that some challenges related to the electrification of isolated areas still lie ahead. We finalize with a discussion on the relevance of the Brazilian experience to other developing countries.
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33.
  • Gómez, Maria F, 1970- (författare)
  • Social technology : impacting development through electricity access in the Amazon Region
  • 2013
  • Ingår i: IAMOT 2013 Proceedings. - 0981581765
  • Konferensbidrag (refereegranskat)abstract
    • The actual Brazilian rural electrification program has benefited more than 14 million people since its inception in 2003. However, 900 thousand people are still without electricity services in the isolated areas of the Amazon region. In general, the program has used a grid-based technology to provide electricity to new users in Brazil. In the Amazon, challenges are related to the provision of services in isolated areas where grid extension is not viable. Reaching this population in their local environment and promoting their development is important. Aware of the importance of electricity services to the country’s development, the Brazilian government has recognized the need for implementing different energy technologies to generate power in isolated areas. However, there is an institutional gap that needs to be addressed.This paper explores the Social Technology concept and analyzes how it can support the current Brazilian rural electrification initiative. This concept provides a different view on how the relationships between institutions and technology could evolve in the Amazon region. In this direction, we elaborate on twelve implications of Social Technology implementation and analyze how they can contribute to deliver electricity services and guarantee valuable social impacts for the region. Can Social Technology principles help to identify concrete tasks to overcome the actual institutional shortcoming to achieve universal access in the Amazon? How to effectively incorporate them into the current Brazilian rural electrification initiative, considering local realities of isolated communities?The fact that achieving universal energy access has a significant impact on human development provides a starting point for our analysis. In the first section, we introduce challenges that the Brazilian government are facing in connection to universal access achievements in isolated areas, in the second section, we present the Social Technology concept and discuss its implications using the case of the isolated areas in Brazil to exemplify them. In the third section we analyze interconnections between structural components of Social Technology and the Brazilian rural electrification program and identify key actions to enhance rural electrification in isolated areas. Finally, we conclude with the identification of two concrete actions to achieve universal access in isolated areas and boost national development targets. First, local knowledge needs to be recognized, systematized and included in planning, implementation and monitoring of rural electrification projects. Second, effective communication channels need to be considered in the process. Participatory activities are crucial and transversal to possible solutions and provide the basis for a new and comprehensive institutional framework. We highlight the role of the government at central and local levels for the purpose of setting up the appropriate environment for these changes to happen.
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34.
  • Gómez, Maria F, 1970-, et al. (författare)
  • Technology for social inclusion : the case of electricity access in the Brazilian Amazon
  • 2013
  • Ingår i: Journal of Sustainable Development of Energy, Water and Environment Systems. - : SDEWES Centre. - 1848-9257. ; 1:3, s. 237-259
  • Tidskriftsartikel (refereegranskat)abstract
    • This paper explores the Social Technology concept and analyses how it can support the current Brazilian rural electrification initiative. It addresses the question: ‘can Social Technology principles serve to identify concrete tasks to overcome the challenges of universal access in the Amazon? If so, how can they be effectively incorporated into the current Brazilian rural electrification initiative?’ We conclude with the identification of two concrete actions to achieve universal access in isolated areas. First, the recognition, compilation and systematization of local knowledge are important tasks ahead. Second, effective communication channels and methods are needed to spread local knowledge and support the design, implementation, and operation of innovative solutions. Participatory activities are crucial to enable these concrete actions. We highlight the role of the government at central and local levels for the purpose of setting up the appropriate environment for these changes to happen.
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35.
  • Gómez, Maria F., 1970-, et al. (författare)
  • The Brazilian electrification program LPT (Light for All) – what lessons have been learnt?
  • 2010
  • Ingår i: Renewable Energy for Development. - Stockholm : SEI. - 1101-8267. ; 23:1-2, s. 1-2
  • Tidskriftsartikel (refereegranskat)abstract
    • The Brazilian government aims to provide complete electricity coverage for all citizens as a means to promote development. Between 2003 and 2009, 11 million people have benefited from the electrification program Light for All (LPT). The success of policies for electricity access cannot be measured only in terms of the number of connections. Instead, the impact of electrification on development must be determined as a way to justify resource allocation and confirm welfare improvement. Although two million people have been connected through grid extension, one million inhabitants still lack electricity access in the Amazon. The results of LPT can be considered a great achievement for a nation that has recently been considered as a developing country. However, one million people still lack electricity in the Amazon. Other challenges ahead include concerns on the economic and social sustainability of the electrification system being put in place.
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36.
  • Gómez, Maria F., 1970-, et al. (författare)
  • The institutional dimension for off-grid rural electrification in the Amazon region
  • 2011
  • Ingår i: World Renewable Energy Congress – Sweden, 8–13 May, 2011, Linköping, Sweden. - : Linköping University Electronic Press, Linköpings universitet. - 9789173930703 ; , s. 3444-3451
  • Konferensbidrag (refereegranskat)abstract
    • The Brazilian government aims at providing complete electricity coverage for all citizens as a means to achieve development and reduce poverty. More than 2 million people living in the Amazon have benefited from the rural electrification program Luz Para Todos (LPT – Light for all), mainly through a grid-extension approach. Yet, there is general agreement on the need for an off-grid scheme in order to supply isolated areas. How can the actual institutional framework support the process of supplying electricity to these communities so that the trend of improving electricity access and quality of life continues? We aim at exploring the existing institutional dimension connected to LPT and identifying potential forms of organization for decentralized solutions in the Amazon region. Our analysis is based on current energy policy in Brazil, existing institutional framework, achievements of LPT and potentialities of the isolated areas in terms of resources. Our conclusions draw attention to potential approaches for the next step within LPT context. We argue that the off-grid approach must be based on the uniqueness of the isolated areas in the Amazon. We emphasize the relevance of renewable energy sources in the process of supplying electricity and securing inclusion of isolated areas in universal access.
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37.
  • Gómez, Maria F, 1970- (författare)
  • Universal Electricity Access in Remote Areas : Building a pathway toward universalization in the Brazilian Amazon
  • 2014
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • Worldwide, policymakers face important challenges in relation to the provision of reliable electricity services in remote areas. Brazil is not an exception. The Brazilian rural electrification initiative Luz Para Todos – LPT (Light for All) has attracted attention internationally due to its ambitious targets and significant achievements in a relatively short period. The initiative has proved effective in its first phase, which has been developed through the extension of the grid. However, there are still important challenges in connection with the operationalization of LPT in remote areas.The ultimate objective of this research is to propose a pathway to facilitate the achievement of universal electricity access in remote areas within the context of the Brazilian Amazon. The analysis was developed using a Mixed Methods Research (MMR) involving tools such as Causal Loops Diagrams (Consideo Modeller ®) and the energy modeling software for Hybrid Renewable Energy Systems (HOMER ®).This thesis addresses three key questions. The first question is concerned with the strengths and weaknesses of the national rural electrification initiative. The second question investigates institutional, technology and funding structures that specifically support the Brazilian rural electrification initiative in remote areas. The third question involves the identification of leverage points within these structures.The study concluded that the existing LPT scheme is not capable of achieving full electricity access in remote areas of the Brazilian Amazon. Important challenges remain when it comes to providing the service to inhabitants of these areas. There is a need to i) adapt the existing institutional structures; ii) harmonize technologies within the regional context and, iii) use government funds more effectively. In line with these challenges, identified leverage points indicate that i) rules guiding the relationship among new agents and communities; ii) implementation of small-scale power generation technologies based on local resources; and iii) optimized subsidies are essential to achieve universalization goals in remote areas.The research proposes a new pathway to activate the identified leverage points within the institutional, technology, and funding structures of LPT. The pathway requires well-informed decision making for the implementation and operation of off-grid solutions that can help to cover the last mile. Within this context, results of the study are expected to provide insights for policymakers, technology providers, project developers, researchers, and communities in general as they seek to increase electricity access in remote areas.
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38.
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39.
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40.
  • Jones, Owen R., et al. (författare)
  • Diversity of ageing across the tree of life
  • 2014
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 505:7482, s. 169-
  • Tidskriftsartikel (refereegranskat)abstract
    • Evolution drives, and is driven by, demography. A genotype moulds its phenotype's age patterns of mortality and fertility in an environment; these two patterns in turn determine the genotype's fitness in that environment. Hence, to understand the evolution of ageing, age patterns of mortality and reproduction need to be compared for species across the tree of life. However, few studies have done so and only for a limited range of taxa. Here we contrast standardized patterns over age for 11 mammals, 12 other vertebrates, 10 invertebrates, 12 vascular plants and a green alga. Although it has been predicted that evolution should inevitably lead to increasing mortality and declining fertility with age after maturity, there is great variation among these species, including increasing, constant, decreasing, humped and bowed trajectories for both long-and short-lived species. This diversity challenges theoreticians to develop broader perspectives on the evolution of ageing and empiricists to study the demography of more species.
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41.
  • Kirchhoff, Tomas, et al. (författare)
  • Breast cancer risk and 6q22.33 : combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2
  • 2012
  • Ingår i: PLOS ONE. - : Public library of science. - 1932-6203. ; 7:6
  • Tidskriftsartikel (refereegranskat)abstract
    • Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p = <0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95%CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.
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42.
  • Maxwell, Christopher A., et al. (författare)
  • Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer
  • 2011
  • Ingår i: PLoS Biology. - : Public Library of Science (PLoS). - 1545-7885 .- 1544-9173. ; 9:11
  • Tidskriftsartikel (refereegranskat)abstract
    • Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark of breast carcinogenesis. In BRCA1 mutation carriers, accumulation of stem and progenitor cells in normal breast tissue and increased risk of developing tumors of basal-like type suggest that BRCA1 regulates stem/progenitor cell proliferation and differentiation. However, the function of BRCA1 in this process and its link to carcinogenesis remain unknown. Here we depict a molecular mechanism involving BRCA1 and RHAMM that regulates apicobasal polarity and, when perturbed, may increase risk of breast cancer. Starting from complementary genetic analyses across families and populations, we identified common genetic variation at the low-penetrance susceptibility HMMR locus (encoding for RHAMM) that modifies breast cancer risk among BRCA1, but probably not BRCA2, mutation carriers: n = 7,584, weighted hazard ratio ((w)HR) = 1.09 (95% CI 1.02-1.16), p(trend) = 0.017; and n = 3,965, (w)HR = 1.04 (95% CI 0.94-1.16), p(trend) = 0.43; respectively. Subsequently, studies of MCF10A apicobasal polarization revealed a central role for BRCA1 and RHAMM, together with AURKA and TPX2, in essential reorganization of microtubules. Mechanistically, reorganization is facilitated by BRCA1 and impaired by AURKA, which is regulated by negative feedback involving RHAMM and TPX2. Taken together, our data provide fundamental insight into apicobasal polarization through BRCA1 function, which may explain the expanded cell subsets and characteristic tumor type accompanying BRCA1 mutation, while also linking this process to sporadic breast cancer through perturbation of HMMR/RHAMM.
  •  
43.
  • Nerini, Francesco Fuso, et al. (författare)
  • Rural electrification options in the Brazilian Amazon A multi-criteria analysis
  • 2014
  • Ingår i: Energy for Sustainable Development. - : Elsevier BV. - 0973-0826 .- 2352-4669. ; 20:1, s. 36-48
  • Tidskriftsartikel (refereegranskat)abstract
    • Worldwide, approximately 1.2 billion people still lack access to electricity. Recognized by the Brazilian Government as a citizen's right, access to electricity was extended to almost 15 million people since 2003 as a result of the "Luz Para Todos" (Light for all - LPT) program. However, considerable parts of the Amazon region still lack access to electricity services, largely due to the long distances that need to be covered and to challenging topography. This paper explores electrification using selected renewable sources, both for new installations and for hybridization of existing diesel generators. We present results from a multi-criteria analysis that explores trade-offs associated with electrification options. Techno-economic, environmental, social and institutional criteria and attributes are explored. We find that renewable and hybrid systems present a number of advantages for application in isolated areas of the region.
  •  
44.
  • Salomon, Marianne, et al. (författare)
  • Pelletization : an alternative for polygeneration in the palm oil industry
  • 2013
  • Ingår i: Biomass Conversion and Biorefinery. - : Springer Science and Business Media LLC. - 2190-6815 .- 2190-6823. ; 3:3, s. 213-229
  • Tidskriftsartikel (refereegranskat)abstract
    • Agricultural residues continue to attract interest for energy recovery purposes as a renewable, CO2 neutral and increasingly cost-competitive alternative to traditional fossil fuels. Furthermore, some of these residues, like palm oil residues, represent a disposal problem for the processing industries, or they are not used efficiently. Several palm oil mills (POM) lack efficient energy systems and thus there is a considerable potential for improvement. These factors represent a strong driving force for the development of innovative polygeneration plants with combined electricity, heat and refined fuel production based on conversion of solid residues. This paper aims at analyzing the use of agro-industrial residues as fuel. For that, we propose different technology configurations based on the case of a small-scale palm oil mill in Colombia processing 30 tons of fresh fruit bunch per hour. The technology configurations include steam cycles using backpressure turbines, condensing-extraction turbines and also gasification-gas engine cycles in hybrid configurations. The possibilities to produce pellets from the residues from palm oil were also analyzed. The steam cycle base operational parameters were 20 bar and 350 °C. However, more advanced steam conditions (40 bar) were also considered and evaluated. All the analyses performed included a maximum of 60 % of the empty fruit bunch (EFB) produced in the POM for energy purposes due to its value as natural fertilizer in the palm oil plantations. The results show that the POM under study and other POMs that use electricity from the national grid have the capacity of being self-sufficient to cover of all their energy needs using the solid residues available. This means that POMs that currently only generate the required heat for the process can generate the electricity required and in some cases even an excess of energy that could be sold to other users with an adequate use of the residues available. Furthermore, based on the modeling done in Aspen Utilities Planner® it is shown that it is possible to cover the demand of the POM, the required energy demand for EFB preparation included possible pelletization of these residues and even generate an excess of electricity. In several of the configurations, excess electricity generation could be achieved in the range of 0.5–8 MW.
  •  
45.
  • Sanches Pereira, Alessandro, 1971-, et al. (författare)
  • Towards a cleaner vehicle fleet : The dynamics of the Swedish biofuel system
  • 2013
  • Ingår i: 4th International Workshop Advances in Cleaner Production. - São Paulo : UNIP. ; , s. 1-11
  • Konferensbidrag (refereegranskat)abstract
    • The study’s overall objective is to present how the development of the Swedish biofuels system impacts the achievement of the European Union’s target of 10% of renewable fuels in transport by 2020 and the establishment of a vehicle fleet independent of fossil fuels by 2030 in the country. The methodological approach is based on a combination of forecasting and backcasting scenarios. This cross-analysis is used to relate one set of data with others in order to identify gaps between the potential energy use in the Swedish domestic transport sector with the country’s desired targets. Our analysis shows three gaps related to i) infrastructure and management capabilities for local biofuel production, ii) policy instruments to trigger systemic changes to reduce dependence of imports, and iii) investment decisions. In order to bridge those gaps, policymakers have to decide on how to steer the system’s development not only by combining different pathways between growth patterns of the Swedish biofuel system but also deciding either to apply supply or demand pressures onto the system as driving forces. Despite meeting the desired target of 10% of renewable fuels in transport by 2020, these choices have to be taken in a very short-run in order to shape the development of the Swedish biofuel system away of failing the target of establishing a vehicle fleet independent of fossil fuels by 2030.
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