| 151. |
- Berndt, Sonja I., et al.
(författare)
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Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:8, s. 868-U202
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have previously identified 13 loci associated with risk of chronic lymphocytic leukemia or small lymphocytic lymphoma (CLL). To identify additional CLL susceptibility loci, we conducted the largest meta-analysis for CLL thus far, including four GWAS with a total of 3,100 individuals with CLL (cases) and 7,667 controls. In the meta-analysis, we identified ten independent associated SNPs in nine new loci at 10q23.31 (ACTA2 or FAS (ACTA2/FAS), P = 1.22 x 10(-14)), 18q21.33 (BCL2, P = 7.76 x 10(-11)), 11p15.5 (C11orf21, P = 2.15 x 10(-10)), 4q25 (LEF1, P = 4.24 x 10(-10)), 2q33.1 (CASP10 or CASP8 (CASP10/CASP8), P = 2.50 x 10(-9)), 9p21.3 (CDKN2B-AS1, P = 1.27 x 10(-8)), 18q21.32 (PMAIP1, P = 2.51 x 10(-8)), 15q15.1 (BMF, P = 2.71 x 10(-10)) and 2p22.2 (QPCT, P = 1.68 x 10(-8)), as well as an independent signal at an established locus (2q13, ACOXL, P = 2.08 x 10(-18)). We also found evidence for two additional promising loci below genome-wide significance at 8q22.3 (ODF1, P = 5.40 x 10(-8)) and 5p15.33 (TERT, P = 1.92 x 10(-7)). Although further studies are required, the proximity of several of these loci to genes involved in apoptosis suggests a plausible underlying biological mechanism.
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| 152. |
- Berndt, Sonja I., et al.
(författare)
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Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia
- 2016
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Chronic lymphocytic leukemia (CLL) is a common lymphoid malignancy with strong heritability. To further understand the genetic susceptibility for CLL and identify common loci associated with risk, we conducted a meta-analysis of four genome-wide association studies (GWAS) composed of 3,100 cases and 7,667 controls with follow-up replication in 1,958 cases and 5,530 controls. Here we report three new loci at 3p24.1 (rs9880772, EOMES, P = 2.55 x 10(-11)), 6p25.2 (rs73718779, SERPINB6, P = 1.97 x 10(-8)) and 3q28 (rs9815073, LPP, P = 3.62 x 10(-8)), as well as a new independent SNP at the known 2q13 locus (rs9308731, BCL2L11, P = 1.00 x 10(-11)) in the combined analysis. We find suggestive evidence (P<5 x 10(-7)) for two additional new loci at 4q24 (rs10028805, BANK1, P = 7.19 x 10(-8)) and 3p22.2 (rs1274963, CSRNP1, P = 2.12 x 10(-7)). Pathway analyses of new and known CLL loci consistently show a strong role for apoptosis, providing further evidence for the importance of this biological pathway in CLL susceptibility.
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| 153. |
- Bhowmick, S., et al.
(författare)
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Arsenic mobilization in the aquifers of three physiographic settings of West Bengal, India : Understanding geogenic and anthropogenic influences
- 2013
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Ingår i: Journal of Hazardous Materials. - : Elsevier BV. - 0304-3894 .- 1873-3336. ; 262, s. 915-923
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Tidskriftsartikel (refereegranskat)abstract
- A comparative hydrogeochemical study was carried out in West Bengal, India covering three physiographic regions, Debagram and Chakdaha located in the Bhagirathi-Hooghly alluvial plain and Baruipur in the delta front, to demonstrate the control of geogenic and anthropogenic influences on groundwater arsenic (As) mobilization. Groundwater samples (n=90) from tube wells were analyzed for different physico-chemical parameters. The low redox potential (Eh=-185 to -86mV) and dominant As(III) and Fe(II) concentrations are indicative of anoxic nature of the aquifer. The shallow (<100m) and deeper (>100m) aquifers of Bhagirathi-Hooghly alluvial plains as well as shallow aquifers of delta front are characterized by Ca2+HCO3 - type water, whereas Na+ and Cl- enrichment is found in the deeper aquifer of delta front. The equilibrium of groundwater with respect to carbonate minerals and their precipitation/dissolution seems to be controlling the overall groundwater chemistry. The low SO4 2- and high DOC, PO4 3- and HCO3 - concentrations in groundwater signify ongoing microbial mediated redox processes favoring As mobilization in the aquifer. The As release is influenced by both geogenic (i.e. geomorphology) and anthropogenic (i.e. unsewered sanitation) processes. Multiple geochemical processes, e.g., Fe-oxyhydroxides reduction and carbonate dissolution, are responsible for high As occurrence in groundwaters.
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| 154. |
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| 155. |
- Broderick, Avery E., et al.
(författare)
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The Photon Ring in M87*
- 2022
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Ingår i: Astrophysical Journal. - : American Astronomical Society. - 1538-4357 .- 0004-637X. ; 935:1
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Tidskriftsartikel (refereegranskat)abstract
- We report measurements of the gravitationally lensed secondary image—the first in an infinite series of so-called “photon rings”—around the supermassive black hole M87* via simultaneous modeling and imaging of the 2017 Event Horizon Telescope (EHT) observations. The inferred ring size remains constant across the seven days of the 2017 EHT observing campaign and is consistent with theoretical expectations, providing clear evidence that such measurements probe spacetime and a striking confirmation of the models underlying the first set of EHT results. The residual diffuse emission evolves on timescales comparable to one week. We are able to detect with high significance a southwestern extension consistent with that expected from the base of a jet that is rapidly rotating in the clockwise direction. This result adds further support to the identification of the jet in M87* with a black hole spin-driven outflow, launched via the Blandford-Znajek process. We present three revised estimates for the mass of M87* based on identifying the modeled thin ring component with the bright ringlike features seen in simulated images, one of which is only weakly sensitive to the astrophysics of the emission region. All three estimates agree with each other and previously reported values. Our strongest mass constraint combines information from both the ring and the diffuse emission region, which together imply a mass-to-distance ratio of 4.20 − 0.06 + 0.12 μ as and a corresponding black hole mass of (7.13 ± 0.39) × 109 M ⊙, where the error on the latter is now dominated by the systematic uncertainty arising from the uncertain distance to M87*.
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| 156. |
- Cantera, JL, et al.
(författare)
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Performance of novel antibodies for lipoarabinomannan to develop diagnostic tests for Mycobacterium tuberculosis
- 2022
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Ingår i: PloS one. - : Public Library of Science (PLoS). - 1932-6203. ; 17:9, s. e0274415-
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Tidskriftsartikel (refereegranskat)abstract
- Lipoarabinomannan (LAM), a component of the Mycobacterium tuberculosis (MTB) cell wall, is detectable in the urine of MTB infected patients with active tuberculosis (TB). LAM-specific antibodies (Igs) have been developed by a variety of traditional and recombinant methods for potential use in a rapid diagnostic test (RDT). We evaluated the analytical performance of the TB LAM Igs to identify pairs that offer superior performance over existing urine LAM tests. We assessed 25 new and 4 existing Igs in a matrixed format using a multiplex electrochemiluminescence-based liquid immunoassay. A total of 841 paired Ig combinations were challenged with in vitro cultured LAM (cLAM) derived from MTB strains representing diverse phylogenetic lineages, alongside urinary LAM (uLAM) from the urine of adults with active pulmonary TB. Analytical sensitivity of down-selected Ig pairs was determined using MTB Aoyama-B cLAM, while diagnostic accuracy was determined using clinical samples. When testing cLAM, the reactivity of Ig pairs was similar across MTB lineages 1–4 but lineage 5:6 had significantly more reactivity among Ig pairs. Overall, 41 Ig pairs had a strong binding affinity to cLAM, as compared to the reference pair of S4-20/A194-01, and 28 Ig pairs therein exhibited a strong affinity for both cLAM and uLAM. Retrospective testing on clinical urine specimens demonstrated varying sensitivities (12–80%) and specificities (14–100%). The five top pairs had a similar analytical limit of detection to the reference pair but in four instances, the sensitivity and specificity with clinical uLAM samples was poor. Overall, epitopes presented by uLAM are different from cLAM, which may affect antibody performance when testing uLAM in patient samples. Several new Ig pairs had similar ranges of high sensitivity to cLAM but overall, there were no new candidate Ig pairs identified in this round of screening with increased performance with uLAM as compared to an existing optimal pair.
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| 157. |
- Casamitjana, Adrià, et al.
(författare)
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Bayesian learning for time-varying linear prediction of speech
- 2015
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Ingår i: 2015 23rd European Signal Processing Conference, EUSIPCO 2015. - : Institute of Electrical and Electronics Engineers (IEEE). - 9780992862633 ; , s. 325-329
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Konferensbidrag (refereegranskat)abstract
- We develop Bayesian learning algorithms for estimation of time-varying linear prediction (TVLP) coefficients of speech. Estimation of TVLP coefficients is a naturally underdeter-mined problem. We consider sparsity and subspace based approaches for dealing with the corresponding underde-termined system. Bayesian learning algorithms are developed to achieve better estimation performance. Expectation-maximization (EM) framework is employed to develop the Bayesian learning algorithms where we use a combined prior to model a driving noise (glottal signal) that has both sparse and dense statistical properties. The efficiency of the Bayesian learning algorithms is shown for synthetic signals using spectral distortion measure and formant tracking of real speech signals.
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| 158. |
- Cerhan, James R., et al.
(författare)
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Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma
- 2014
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:11, s. 1233-1238
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Tidskriftsartikel (refereegranskat)abstract
- Diffuse large B cell lymphoma (DLBCL) is the most common lymphoma subtype and is clinically aggressive. To identify genetic susceptibility loci for DLBCL, we conducted a meta-analysis of 3 new genome-wide association studies (GWAS) and 1 previous scan, totaling 3,857 cases and 7,666 controls of European ancestry, with additional genotyping of 9 promising SNPs in 1,359 cases and 4,557 controls. In our multi-stage analysis, five independent SNPs in four loci achieved genome-wide significance marked by rs116446171 at 6p25.3 (EXOC2; P = 2.33 x 10(-21)), rs2523607 at 6p21.33 (HLA-B; P = 2.40 x 10(-10)), rs79480871 at 2p23.3 (NCOA1; P = 4.23 x 10(-8)) and two independent SNPs, rs13255292 and rs4733601, at 8q24.21 (PVT1; P = 9.98 x 10(-13) and 3.63 x 10(-11), respectively). These data provide substantial new evidence for genetic susceptibility to this B cell malignancy and point to pathways involved in immune recognition and immune function in the pathogenesis of DLBCL.
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| 159. |
- Chatterjee, D., et al.
(författare)
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Groundwater arsenic in the fluvial Bengal plains : geochemistry and mitigation
- 2013
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Ingår i: PROCEEDINGS OF THE FOURTEENTH INTERNATIONAL SYMPOSIUM ON WATER-ROCK INTERACTION, WRI 14. - : ELSEVIER SCIENCE BV. ; , s. 143-146
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Konferensbidrag (refereegranskat)abstract
- The water quality and chemistry of the groundwater of the fluvial Bengal plains have been investigated. It has been found that shallow aquifers (< 50 m bgl) are contaminated in a few pockets, surrounded by areas with low arsenic (As)/As-free groundwater, while the deeper aquifer (> 100 m bgl) is generally free from As (< 10 mu g/L). It also reveals that multiple As mobilization processes are occurring simultaneously, rather than any single geochemical process. An attempt has been made to demonstrate the degree of As heterogeneity with groundwater quality, and this has been followed by a few local conditions. The study further suggests that the As distribution (spatio-vertical) helps to identify safe shallow aquifers, and several signatures (colour of the sediments /land use pattern/ geomorphological features /local recharge events) are apparent that can be useful for formulating long-term mitigation options.
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| 160. |
- Chatterjee, P., et al.
(författare)
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Alpha effect due to buoyancy instability of a magnetic layer
- 2011
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 534, s. A 46-
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Tidskriftsartikel (refereegranskat)abstract
- Context. A strong toroidal field can exist in form of a magnetic layer in the overshoot region below the solar convection zone. This motivates a more detailed study of the magnetic buoyancy instability with rotation. Aims: We calculate the α effect due to helical motions caused by an unstable magnetic layer in a rotating density-stratified system with angular velocity Ω making an angle θ with the vertical. We also study the dependence of the α effect on θ and the strength of the initial magnetic field. Methods: We carry out three-dimensional hydromagnetic simulations in Cartesian geometry. A turbulent electromotive force (EMF) due to the correlations of the small scale velocity and magnetic field is generated. We use the test-field method to calculate the transport coefficients of the inhomogeneous turbulence produced by the layer. Results: We show that the growth rate of the instability and the twist of the magnetic field vary monotonically with the ratio of thermal conductivity to magnetic diffusivity. The resulting α effect is non-uniform and increases with the strength of the initial magnetic field. It is thus an example of an "anti-quenched" α effect. The α effect is also nonlocal, i.e. scale dependent, requiring around 8-16 Fourier modes to reconstruct the actual mean EMF based on the actual mean field.
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