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51.	Chirapatpimol, K, et al. (författare) Precision Measurement of the p(e,e′p)π0 Reaction at Threshold 2015 Ingår i: Physical Review Letters. - 1079-7114. ; 114:19 Tidskriftsartikel (refereegranskat)abstract New results are reported from a measurement of π^{0} electroproduction near threshold using the p(e,e^{'}p)π^{0} reaction. The experiment was designed to determine precisely the energy dependence of s- and p-wave electromagnetic multipoles as a stringent test of the predictions of chiral perturbation theory (ChPT). The data were taken with an electron beam energy of 1192 MeV using a two-spectrometer setup in Hall A at Jefferson Lab. For the first time, complete coverage of the ϕ_{π}^{} and θ_{π}^{} angles in the pπ^{0} center of mass was obtained for invariant energies above threshold from 0.5 up to 15 MeV. The 4-momentum transfer Q^{2} coverage ranges from 0.05 to 0.155 (GeV/c)^{2} in fine steps. A simple phenomenological analysis of our data shows strong disagreement with p-wave predictions from ChPT for Q^{2}>0.07 (GeV/c)^{2}, while the s-wave predictions are in reasonable agreement.
52.	Rvachev, MM, et al. (författare) Quasielastic He-3(e,e(')p)H-2 reaction at Q(2)=1.5 GeV2 for recoil momenta up to 1 GeV/c 2005 Ingår i: Physical Review Letters. - 1079-7114. ; 94:19 Tidskriftsartikel (refereegranskat)abstract We have studied the quasielastic He-3(e,e(')p)H-2 reaction in perpendicular coplanar kinematics, with the energy and the momentum transferred by the electron fixed at 840 MeV and 1502 MeV/c, respectively. The He-3(e,e(')p)H-2 cross section was measured for missing momenta up to 1000 MeV/c, while the A(TL) asymmetry was extracted for missing momenta up to 660 MeV/c. For missing momenta up to 150 MeV/c, the cross section is described by variational calculations using modern He-3 wave functions. For missing momenta from 150 to 750 MeV/c, strong final-state interaction effects are observed. Near 1000 MeV/c, the experimental cross section is more than an order of magnitude larger than predicted by available theories. The A(TL) asymmetry displays characteristic features of broken factorization with a structure that is similar to that generated by available models.
53.	Wang, HD, et al. (författare) Global, regional, national, and selected subnational levels of stillbirths, neonatal, infant, and under-5 mortality, 1980-2015: a systematic analysis for the Global Burden of Disease Study 2015 2016 Ingår i: Lancet (London, England). - : Elsevier. - 1474-547X .- 0140-6736. ; 388:10053, s. 1725-1774 Tidskriftsartikel (refereegranskat)
54.	Aharonian, F., et al. (författare) Constraints on the multi-TeV particle population in the Coma galaxy cluster with HESS observations 2009 Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 502:2, s. 437-443 Tidskriftsartikel (refereegranskat)abstract Aims. Galaxy clusters are key targets in the search for ultra high energy particle accelerators. The Coma cluster represents one of the best candidates for such a search owing to its high mass, proximity, and the established non-thermal radio emission centred on the cluster core. Methods. The HESS (High Energy Stereoscopic System) telescopes observed Coma for similar to 8 h in a search for gamma-ray emission at energies > 1 TeV. The large 3.5 degrees FWHM field of view of HESS is ideal for viewing a range of targets at various sizes including the Coma cluster core, the radio-relic (1253+275) and merger/infall (NGC 4839) regions to the southwest, and features greater than 1 degrees away. Results. No evidence for point-like nor extended TeV gamma-ray emission was found and upper limits to the TeV flux F(E) for E > 1, > 5, and > 10 TeV were set for the Coma core and other regions. Converting these limits to an energy flux E(2)F(E) the lowest or most constraining is the E > 5 TeV upper limit for the Coma core (0.2 degrees radius) at similar to 8% Crab flux units or similar to 10(-13) ph cm(-2) s(-1). Conclusions. The upper limits for the Coma core were compared with a prediction for the gamma-ray emission from proton-proton interactions, the level of which ultimately scales with the mass of the Coma cluster. A direct constraint using our most stringent limit for E > 5 TeV, on the total energy content in non-thermal protons with injection energy spectrum alpha E(-2.1) and spatial distribution following the thermal gas in the cluster, is found to be similar to 0.2 times the thermal energy, or similar to 10(62) erg. The E > 5 TeV gamma-ray threshold in this case corresponds to cosmic-ray proton energies greater than or similar to 50 TeV. Our upper limits rule out the most optimistic theoretical models for gamma ray emission from clusters and complement radio observations which constrain the cosmic ray content in clusters at significantly lower proton energies, subject to assumptions on the magnetic field strength.
55.	Aharonian, F., et al. (författare) Detection of very high energy radiation from HESS J1908+063 confirms the Milagro unidentified source MGRO J1908+06 2009 Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 499:3, s. 723-728 Tidskriftsartikel (refereegranskat)abstract Aims. Detection of gamma-ray source above 300 GeV is reported, confirming the unidentified source MGRO J1908+06, discovered by the Milagro collaboration at a median energy of 20 TeV. Methods. The source was observed during 27 h as part of the extension of the HESS Galactic plane survey to longitudes > 30 degrees. Results. HESS J1908+063 is detected at a significance level of 10.9 sigma with an integral flux above 1 TeV of (3.76 +/- 0.29 (stat) +/- 0.75(sys)) x 10(-12) ph cm(-2) s(-1), and a spectral photon index Gamma = 2.10 +/- 0.07 (stat) +/- 0.2(sys). The positions and fluxes of HESS J1908+063 and MGRO J1908+06 are in good agreement. Possible counterparts at other wavelengths and the origin of the gamma-ray emission are discussed. The nearby unidentified GeV source, GRO J1908+0556 (GeV) which also remains unidentified and the new Fermi pulsar 0FGL J1907.5+0617, may be connected to the TeV source.
56.	Aharonian, F., et al. (författare) Discovery of very high energy γ-ray emission from centaurus a with H.E.S.S. 2009 Ingår i: Astrophysical Journal Letters. - : Institute of Physics (IOP). - 2041-8205. ; 695:1, s. L40-L44 Tidskriftsartikel (refereegranskat)abstract We report the discovery of faint very high energy (VHE; E > 100 GeV) gamma-ray emission from the radio galaxy Centaurus A in observations performed with the High Energy Stereoscopic System (H.E.S.S.) experiment, an imaging atmospheric Cherenkov telescope array consisting of four telescopes located in Namibia. Centaurus A has been observed for more than 120 hr. A signal with a statistical significance of 5.0 sigma is detected from the region including the radio core and the inner kpc jets. The integral flux above an energy threshold of similar to 250 GeV is measured to be 0.8% of the flux of the Crab Nebula (apparent luminosity: L(> 250 GeV) approximate to 2.6 x 1039 erg s(-1), adopting a distance of 3.8 Mpc). The spectrum can be described by a power law with a photon index of 2.7 +/- 0.5(stat) +/- 0.2(sys). No significant flux variability is detected in the data set. However, the low flux only allows detection of variability on the timescale of days to flux increments above a factor of similar to 15-20 (3 sigma and 4 sigma, respectively). The discovery of VHE gamma-ray emission from Centaurus A reveals particle acceleration in the source to > TeV energies and, together with M 87, establishes radio galaxies as a class of VHE emitters.
57.	Aharonian, F., et al. (författare) Energy Spectrum of Cosmic-Ray Electrons at TeV Energies 2008 Ingår i: Physical Review Letters. - : APS Physics. - 0031-9007 .- 1079-7114. ; 101:26 Tidskriftsartikel (refereegranskat)abstract The very large collection area of ground-based gamma-ray telescopes gives them a substantial advantage over balloon or satellite based instruments in the detection of very-high-energy (> 600 GeV) cosmic-ray electrons. Here we present the electron spectrum derived from data taken with the High Energy Stereoscopic System (H.E.S.S.) of imaging atmospheric Cherenkov telescopes. In this measurement, the first of this type, we are able to extend the measurement of the electron spectrum beyond the range accessible to direct measurements. We find evidence for a substantial steepening in the energy spectrum above 600 GeV compared to lower energies.
58.	Aharonian, F., et al. (författare) HESS upper limit on the very high energy gamma-ray emission from the globular cluster 47 Tucanae 2009 Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 499:1, s. 273-277 Tidskriftsartikel (refereegranskat)abstract Observations of the globular cluster 47 Tucanae (NGC 104), which contains at least 23 ms pulsars, were performed with the HESS telescope system. The observations lead to an upper limit of F(E > 800 GeV) < 6.7 x 10(-13) cm(-2) s(-1) on the integral gamma-ray photon flux from 47 Tucanae. Considering millisecond pulsars as the unique potential source of gamma-rays in the globular cluster, constraints based on emission models are derived: on the magnetic field in the average pulsar nebula and on the conversion efficiency of spin-down power to gamma-ray photons or to relativistic leptons.
59.	Aharonian, F., et al. (författare) Limits on an Energy Dependence of the Speed of Light from a Flare of the Active Galaxy PKS 2155-304 2008 Ingår i: Physical Review Letters. - : APS Physics. - 0031-9007 .- 1079-7114. ; 101:17 Tidskriftsartikel (refereegranskat)abstract In the past few decades, several models have predicted an energy dependence of the speed of light in the context of quantum gravity. For cosmological sources such as active galaxies, this minuscule effect can add up to measurable photon-energy dependent time lags. In this Letter a search for such time lags during the High Energy Stereoscopic System observations of the exceptional very high energy flare of the active galaxy PKS 2155-304 on 28 July 2006 is presented. Since no significant time lag is found, lower limits on the energy scale of speed of light modifications are derived.
60.	Aharonian, F., et al. (författare) Simultaneous HESS and Chandra observations of Sagitarius A(star) during an X-ray flare 2008 Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 492:1, s. L25-L28 Tidskriftsartikel (refereegranskat)abstract The rapidly varying (similar to 10 min timescale) non-thermal X-ray emission observed from Sgr A(star) implies that particle acceleration is occuring close to the event horizon of the supermassive black hole. The TeV gamma-ray source HESS J1745-290 is coincident with Sgr A(star) and may be closely related to its X-ray emission. Simultaneous X-ray and TeV observations are required to elucidate the relationship between these objects. We report on joint HESS/Chandra observations performed in July 2005, during which an X-ray flare was detected. Despite a factor of approximate to 9 increase in the X-ray flux of Sgr A(star), no evidence is found for an increase in the TeV gamma-ray flux from this region. We find that an increase in the gamma-ray flux of a factor of 2 or greater can be excluded at a confidence level of 99%. This finding disfavours scenarios in which the keV and TeV emission are associated with the same population of accelerated particles and in which the bulk of the gamma-ray emission is produced within similar to 1014 cm (similar to 100 RS) of the supermassive black hole.
61.	Aharonian, F., et al. (författare) Simultaneous multiwavelength observations of the second exceptional gamma-ray flare of PKS2155-304 in July 2006 2009 Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 502:3, s. 749-770 Forskningsöversikt (refereegranskat)abstract Aims. The X-ray-TeV connection and the evolution of the emitting particle population is studied in high-energy peaked BL Lac objects, by obtaining spectral information in both bands on sub-hour timescales. Methods. Simultaneous observations with HESS, Chandra and the Bronberg optical observatory were performed on the BL Lac object PKS 2155-304 in the night of July 29-30 2006, when the source underwent a major gamma-ray outburst during its high-activity state of Summer 2006. This event took place about 44 h after the other major outburst of the night of July 27-28, which is known for its ultrafast variability. An unprecedented 6 to 8 h of simultaneous, uninterrupted coverage was achieved, with spectra and light curves measured down to 7 and 2 min timescales, respectively. Results. The source exhibited one major flare along the night, at high energies. The gamma-ray flux reached a maximum of similar to 11 times the Crab flux (>400 GeV), with rise/decay timescales of similar to 1 h, plus a few smaller-amplitude flares superimposed on the decaying phase. The emission in the X-ray and VHE gamma-ray bands is strongly correlated, with no evidence of lags. The spectra also evolve with similar patterns, and are always soft ( photon index G > 2), indicating no strong shift of the peaks in the spectral energy distribution towards higher energies. Only at the flare maximum is there evidence that the gamma-ray peak is inside the observed passband, at similar to 400-600 GeV. The VHE spectrum shows a curvature that is variable with time and stronger at higher fluxes. The huge VHE variations (similar to 22x) are only accompanied by small-amplitude X-ray and optical variations (factor 2 and 15% respectively). The source has shown for the first time in a high-energy peaked BL Lac object a large Compton dominance (L(C)/L(S) similar to 10) - rapidly evolving - and a cubic relation between VHE and X-ray flux variations, during a decaying phase. These results challenge the common scenarios for the TeV-blazar emission.
62.	Aharonian, F., et al. (författare) Spectrum and variability of the Galactic center VHE gamma-ray source HESS J1745-290 2009 Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 503:3, s. 817-825 Tidskriftsartikel (refereegranskat)abstract Aims. A detailed study of the spectrum and variability of the source HESS J1745-290 in the Galactic Center (GC) region using new data from the H. E. S. S. array of Cherenkov telescopes is presented. Flaring activity and quasi periodic oscillations (QPO) of HESS J1745-290 are investigated. Methods. The image analysis is performed with a combination of a semi-analytical shower model and the statistical moment-based Hillas technique. The spectrum and lightcurves of HESS J1745-290 are derived with a likelihood method based on a spectral shape hypothesis. Rayleigh tests and Fourier analysis of the H. E. S. S. GC signal are used to study the periodicity of the source. Results. With a three-fold increase in statistics compared to previous work, a deviation from a simple power law spectrum is detected for the first time. The measured energy spectrum over the three years 2004, 2005 and 2006 of data taking is compatible with both a power law spectrum with an exponential cut-off and a broken power law spectrum. The curvature of the energy spectrum is likely to be intrinsic to the photon source, as opposed to effects of interstellar absorption. The power law spectrum with an exponential cut-off is characterized by a photon index of 2.10 +/- 0.04(stat) +/- 0.10(syst) and a cut-off energy at 15.7 +/- 3.4(stat) +/- 2.5(syst) TeV. The broken power law spectrum exhibits spectral indices of 2.02 +/- 0.08(stat) +/- 0.10(syst) and 2.63 +/- 0.14(stat) +/- 0.10(syst) with a break energy at 2.57 +/- 0.19(stat) +/- 0.44(syst) TeV. No significant flux variation is found. Increases in the gamma-ray flux of HESS J1745-290 by at least a factor of two would be required for a 3 sigma detection of a flare with time scales of an hour. Investigation of possible QPO activity at periods claimed to be detected in X-rays does not show any periodicities in the H. E. S. S. signal.
63.	Aharonian, F., et al. (författare) Very high energy gamma-ray observations of the galaxy clusters Abell 496 and Abell 85 with HESS 2009 Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 495:1, s. 27-35 Tidskriftsartikel (refereegranskat)abstract Aims. The nearby galaxy clusters Abell 496 and Abell 85 are studied in the very high-energy (VHE, E > 100 GeV) band to investigate VHE cosmic rays (CRs) in this class of objects which are the largest gravitationally bound systems in the Universe. Methods. HESS, an array of four imaging atmospheric cherenkov telescopes (IACT), was used to observe the targets in the range of VHE gamma rays. Results. No significant gamma-ray signal is found at the respective position of the two clusters with several different source size assumptions for each target. In particular, emission regions corresponding to the high-density core, to the extension of the entire X-ray emission in these clusters, and to the very extended region where the accretion shock is expected are investigated. Upper limits are derived for the gamma-ray flux at energies E > 570 GeV for Abell 496 and E > 460 GeV for Abell 85. Conclusions. From the non-detection in VHE gamma rays, upper limits on the total energy of hadronic CRs in the clusters are calculated. If the cosmic-ray energy density follows the large-scale gas density profile, the limit on the fraction of energy in these non-thermal particles with respect to the total thermal energy of the intra-cluster medium (ICM) is 51% for Abell 496 and only 8% for Abell 85 due to its higher mass and higher gas density. These upper limits are compared with theoretical estimates. They predict about similar to 10% of the thermal energy of the ICM in non-thermal particles. The observations presented here can constrain these predictions especially for the case of the Abell 85 cluster.
64.	Best, Myron G., et al. (författare) Swarm Intelligence-Enhanced Detection of Non-Small-Cell Lung Cancer Using Tumor-Educated Platelets 2017 Ingår i: Cancer Cell. - : Elsevier. - 1535-6108 .- 1878-3686. ; 32:2, s. 238-252 Tidskriftsartikel (refereegranskat)abstract Blood-based liquid biopsies, including tumor-educated blood platelets (TEPs), have emerged as promising biomarker sources for non-invasive detection of cancer. Here we demonstrate that particle-swarm optimization (PSO)-enhanced algorithms enable efficient selection of RNA biomarker panels from platelet RNA sequencing libraries (n = 779). This resulted in accurate TEP-based detection of early- and late-stage non-small-cell lung cancer (n = 518 late-stage validation cohort, accuracy, 88%; AUC, 0.94; 95% CI, 0.92-0.96; p < 0.001; n = 106 early-stage validation cohort, accuracy, 81%; AUC, 0.89; 95% CI, 0.83-0.95; p < 0.001), independent of age of the individuals, smoking habits, whole-blood storage time, and various inflammatory conditions. PSO enabled selection of gene panels to diagnose cancer from TEPs, suggesting that swarm intelligence may also benefit the optimization of diagnostics readout of other liquid biopsy biosources.
65.	Blein, S, et al. (författare) An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers 2015 Ingår i: Breast cancer research : BCR. - : Springer Science and Business Media LLC. - 1465-542X .- 1465-5411. ; 17, s. 61- Tidskriftsartikel (refereegranskat)
66.	Coignard, J, et al. (författare) A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers 2021 Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1, s. 1078- Tidskriftsartikel (refereegranskat)abstract Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers.
67.	Coignard, J, et al. (författare) Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers 2021 Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1, s. 2986- Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-23162-4
68.	Frazier-Wood, Alexis C., et al. (författare) Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses 2016 Ingår i: Nature Genetics. - : Nature Research (part of Springer Nature). - 1061-4036 .- 1546-1718. ; 48, s. 624- Tidskriftsartikel (refereegranskat)abstract Very few genetic variants have been associated with depression and neuroticism, likely because of limitations on sample size in previous studies. Subjective well-being, a phenotype that is genetically correlated with both of these traits, has not yet been studied with genome-wide data. We conducted genome-wide association studies of three phenotypes: subjective well-being (n = 298,420), depressive symptoms (n = 161,460), and neuroticism (n = 170,911). We identify 3 variants associated with subjective well-being, 2 variants associated with depressive symptoms, and 11 variants associated with neuroticism, including 2 inversion polymorphisms. The two loci associated with depressive symptoms replicate in an independent depression sample. Joint analyses that exploit the high genetic correlations between the phenotypes (vertical bar(p) over cap vertical bar approximate to 0.8) strengthen the overall credibility of the findings and allow us to identify additional variants. Across our phenotypes, loci regulating expression in central nervous system and adrenal or pancreas tissues are strongly enriched for association.
69.	Jones, G., et al. (författare) Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women 2021 Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1 Tidskriftsartikel (refereegranskat)abstract Low muscle strength is an important heritable indicator of poor health linked to morbidity and mortality in older people. In a genome-wide association study meta-analysis of 256,523 Europeans aged 60 years and over from 22 cohorts we identify 15 loci associated with muscle weakness (European Working Group on Sarcopenia in Older People definition: n=48,596 cases, 18.9% of total), including 12 loci not implicated in previous analyses of continuous measures of grip strength. Loci include genes reportedly involved in autoimmune disease (HLA-DQA1p=4x10(-17)), arthritis (GDF5p=4x10(-13)), cell cycle control and cancer protection, regulation of transcription, and others involved in the development and maintenance of the musculoskeletal system. Using Mendelian randomization we report possible overlapping causal pathways, including diabetes susceptibility, haematological parameters, and the immune system. We conclude that muscle weakness in older adults has distinct mechanisms from continuous strength, including several pathways considered to be hallmarks of ageing. Muscle weakness has been associated with morbidity and mortality in older people. Here, the authors have investigated this trait further by performing a genome-wide meta-analysis of grip strength and Mendelian randomization to discover causal relationships between muscle weakness and other diseases.
70.	Meron, E, et al. (författare) Meeting Report: Aging Research and Drug Discovery 2022 Ingår i: AGING-US. - 1945-4589. ; 14:2, s. 530-543 Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
71.	Okbay, A, et al. (författare) Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses 2016 Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 48:8, s. 970-970 Tidskriftsartikel (refereegranskat)
72.	Okbay, A, et al. (författare) Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses 2016 Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 48:12, s. 1591-1591 Tidskriftsartikel (refereegranskat)
73.	Schild, R., et al. (författare) Disparities in treatment and outcome of kidney replacement therapy in children with comorbidities: an ESPN/ERA Registry study 2023 Ingår i: Clinical Kidney Journal. - : Oxford University Press (OUP). - 2048-8505 .- 2048-8513. ; 16:4, s. 745-755 Tidskriftsartikel (refereegranskat)abstract Background Data on comorbidities in children on kidney replacement therapy (KRT) are scarce. Considering their high relevance for prognosis and treatment, this study aims to analyse the prevalence and implications of comorbidities in European children on KRT. Methods We included data from patients <20 years of age when commencing KRT from 2007 to 2017 from 22 European countries within the European Society of Paediatric Nephrology/European Renal Association Registry. Differences between patients with and without comorbidities in access to kidney transplantation (KT) and patient and graft survival were estimated using Cox regression. Results Comorbidities were present in 33% of the 4127 children commencing KRT and the prevalence has steadily increased by 5% annually since 2007. Comorbidities were most frequent in high-income countries (43% versus 24% in low-income countries and 33% in middle-income countries). Patients with comorbidities had a lower access to transplantation {adjusted hazard ratio [aHR] 0.67 [95% confidence interval (CI) 0.61-0.74]} and a higher risk of death [aHR 1.79 (95% CI 1.38-2.32)]. The increased mortality was only seen in dialysis patients [aHR 1.60 (95% CI 1.21-2.13)], and not after KT. For both outcomes, the impact of comorbidities was stronger in low-income countries. Graft survival was not affected by the presence of comorbidities [aHR for 5-year graft failure 1.18 (95% CI 0.84-1.65)]. Conclusions Comorbidities have become more frequent in children on KRT and reduce their access to transplantation and survival, especially when remaining on dialysis. KT should be considered as an option in all paediatric KRT patients and efforts should be made to identify modifiable barriers to KT for children with comorbidities. Lay Summary Kidney transplantation (KT) is considered the optimal treatment for children who suffer from permanent kidney failure, because it leads to a lower mortality and higher quality of life compared with dialysis. Children on dialysis frequently suffer from diseases of other organs (comorbidities) that can directly lower their life expectancy and could potentially represent a barrier for transplantation, posing an additional disease burden for these children. In this study we looked at data from a large multinational registry for children with kidney failure who require kidney replacement. Using these data, we studied whether these children suffered from comorbidities and whether these impact their life expectancy or their access to KT. We found that more and more children with kidney failure suffer from comorbidities when starting kidney replacement therapy. We also found that these children have a lower access to KT and a higher mortality on dialysis compared with children without comorbidities, especially in low-income countries. After KT, children with comorbidities have a similar mortality and graft survival compared with children without comorbidities. We concluded that reduced access to a kidney transplant might represent a modifiable barrier to KT in children with comorbidities, especially in low-resource countries. We suggest that children with comorbidities in need for kidney replacement therapy should be rapidly evaluated for eligibility for KT.
74.	Schulte, EC, et al. (författare) High energy angular distribution measurements of the exclusive deuteron photodisintegration reaction 2002 Ingår i: Physical Review C (Nuclear Physics). - : American Physical Society. - 0556-2813 .- 1089-490X. ; 66:4 Tidskriftsartikel (refereegranskat)abstract The first complete measurements of the angular distributions of the two-body deuteron photodisintegration differential cross section at photon energies above 1.6 GeV were performed at the Thomas Jefferson National Accelerator Facility. The results show a persistent forward-backward asymmetry up to E-gamma=2.4 GeV, the highest-energy measured in this experiment. The Hard Rescattering and the Quark-Gluon string models are in fair agreement with the results.
75.	Wells, M., et al. (författare) The Mid-Infrared Instrument for the James Webb Space Telescope, VI: The Medium Resolution Spectrometer 2015 Ingår i: Publications of the Astronomical Society of the Pacific. - : IOP Publishing. - 0004-6280 .- 1538-3873. ; 127:953, s. 646-664 Tidskriftsartikel (refereegranskat)abstract We describe the design and performance of the Medium Resolution Spectrometer (MRS) for the JWST-MIRI instrument. The MRS incorporates four coaxial spectral channels in a compact opto-mechanical layout that generates spectral images over fields of view up to 7.7 x 7.7 '' in extent and at spectral resolving powers ranging from 1300 to 3700. Each channel includes an all-reflective integral field unit (IFU): an "image slicer" that reformats the input field for presentation to a grating spectrometer. Two 1024 x 1024 focal plane detector arrays record the output spectral images with an instantaneous spectral coverage of approximately one third of the full wavelength range of each channel. The full 5-28.5 mu m spectrum is then obtained by making three exposures using gratings and pass-band-determining filters that are selected using just two three-position mechanisms. The expected on-orbit optical performance is presented, based on testing of the MIRI Flight Model and including spectral and spatial coverage and resolution. The point spread function of the reconstructed images is shown to be diffraction limited and the optical transmission is shown to be consistent with the design expectations.
76.	Abramowski, A., et al. (författare) Detection of very-high-energy gamma-ray emission from the vicinity of PSR B1706-44 and G 343.1-2.3 with HESS 2011 Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 528, s. A143- Tidskriftsartikel (refereegranskat)abstract The gamma-ray pulsar PSR B1706-44 and the adjacent supernova remnant (SNR) candidate G 343.1-2.3 were observed by H. E. S. S. during a dedicated observation campaign in 2007. As a result of this observation campaign, a new source of very-high-energy (VHE; E > 100 GeV) gamma-ray emission, H.E.S.S. J1708-443, was detected with a statistical significance of 7 sigma, although no significant point-like emission was detected at the position of the energetic pulsar itself. In this paper, the morphological and spectral analyses of the newly-discovered TeV source are presented. The centroid of H. E. S. S. J1708-443 is considerably offset from the pulsar and located near the apparent center of the SNR, at alpha(J2000) = 17(h)08(m)11(s) +/- 17(s) and delta(J2000) = -44 degrees 20' +/- 4'. The source is found to be significantly more extended than the H. E. S. S. point spread function (similar to 0.1 degrees), with an intrinsic Gaussian width of 0.29 degrees +/- 0.04 degrees. Its integral flux between 1 and 10 TeV is similar to 3.8 x 10(-1)2 ph cm(-2) s(-1), equivalent to 17% of the Crab Nebula flux in the same energy range. The measured energy spectrum is well-fit by a power law with a relatively hard photon index Gamma = 2.0 +/- 0.1(stat) +/-0.2(sys). Additional multi-wavelength data, including 330 MHz VLA observations, were used to investigate the VHE gamma-ray source's possible associations with the pulsar wind nebula of PSR B1706-44 and/or with the complex radio structure of the partial shell-type SNR G 343.1-2.3.
77.	Abramowski, A., et al. (författare) Discovery of extended VHE gamma-ray emission from the vicinity of the young massive stellar cluster Westerlund 1 2012 Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 537, s. A114- Tidskriftsartikel (refereegranskat)abstract Aims. Results obtained in very-high-energy (VHE; E >= 100 GeV) gamma-ray observations performed with the H.E.S.S. telescope array are used to investigate particle acceleration processes in the vicinity of the young massive stellar cluster Westerlund 1 (Wd 1). Methods. Imaging of Cherenkov light from gamma-ray induced particle cascades in the Earth's atmosphere is used to search for VHE gamma rays from the region around Wd 1. Possible catalogued counterparts are searched for and discussed in terms of morphology and energetics of the H.E.S.S. source. Results. The detection of the degree-scale extended VHE gamma-ray source HESS J1646-458 is reported based on 45 h of H.E.S.S. observations performed between 2004 and 2008. The VHE gamma-ray source is centred on the nominal position of Wd 1 and detected with a total statistical significance of similar to 20 sigma. The emission region clearly extends beyond the H.E.S.S. point-spread function (PSF). The differential energy spectrum follows a power law in energy with an index of Gamma = 2.19 +/- 0.08(stat) +/- 0.20(sys) and a flux normalisation at 1 TeV of Phi(0) = (9.0 +/- 1.4(stat) +/- 1.8(sys)) x 10(-12) TeV-1 cm(-2) s(-1). The integral flux above 0.2 TeV amounts to (5.2 +/- 0.9) x 10(-11) cm(-2) s(-1). Conclusions. Four objects coincident with HESS J1646-458 are discussed in the search of a counterpart, namely the magnetar CXOU J164710.2-455216, the X-ray binary 4U 1642-45, the pulsar PSR J1648-4611 and the massive stellar cluster Wd 1. In a single-source scenario, Wd 1 is favoured as site of VHE particle acceleration. Here, a hadronic parent population would be accelerated within the stellar cluster. Beside this, there is evidence for a multi-source origin, where a scenario involving PSR J1648-4611 could be viable to explain parts of the VHE gamma-ray emission of HESS J1646-458.
78.	Abramowski, A., et al. (författare) Discovery of gamma-ray emission from the extragalactic pulsar wind nebula N 157B with HESS 2012 Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 545, s. Article ID: L2- Tidskriftsartikel (refereegranskat)abstract We present the significant detection of the first extragalactic pulsar wind nebula (PWN) detected in gamma rays, N 157B, located in the large Magellanic Cloud (LMC). Pulsars with high spin-down luminosity are found to power energised nebulae that emit gamma rays up to energies of several tens of TeV. N 157B is associated with PSR J0537-6910, which is the pulsar with the highest known spin-down luminosity. The High Energy Stereoscopic System telescope array observed this nebula on a yearly basis from 2004 to 2009 with a dead-time corrected exposure of 46 h. The gamma-ray spectrum between 600 GeV and 12 TeV is well-described by a pure power-law with a photon index of 2.8 +/- 0.2(stat) +/- 0.3(syst) and a normalisation at 1 TeV of (8.2 +/- 0.8(stat) +/- 2.5(syst)) x 10(-13) cm(-2) s(-1) TeV-1. A leptonic multi-wavelength model shows that an energy of about 4 x 10(49) erg is stored in electrons and positrons. The apparent efficiency, which is the ratio of the TeV gamma-ray luminosity to the pulsar's spin-down luminosity, 0.08% +/- 0.01%, is comparable to those of PWNe found in the Milky Way. The detection of a PWN at such a large distance is possible due to the pulsar's favourable spin-down luminosity and a bright infrared photon-field serving as an inverse-Compton-scattering target for accelerated leptons. By applying a calorimetric technique to these observations, the pulsar's birth period is estimated to be shorter than 10 ms.
79.	Abramowski, A., et al. (författare) Discovery of hard-spectrum gamma- ray emission from the BL Lacertae object 1ES 0414+009 2012 Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 538, s. A103- Tidskriftsartikel (refereegranskat)abstract Context. 1ES 0414+009 (z = 0.287) is a distant high-frequency- peaked BL Lac object, and has long been considered a likely emitter of very-highenergy (VHE, E > 100 GeV) gamma-rays due to its high X-ray and radio flux. Aims. Observations in the VHE gamma-ray band and across the electromagnetic spectrum can provide insights into the origin of highly energetic particles present in the source and the radiation processes at work. Because of the distance of the source, the gamma-ray spectrum might provide further limits on the level of the extragalactic background light (EBL). Methods. We report observations made between October 2005 and December 2009 with H. E. S. S., an array of four imaging atmospheric Cherenkov telescopes. Observations at high energies (HE, 100 MeV-100 GeV) with the Fermi-LAT instrument in the first 20 months of its operation are also reported. To complete the multi-wavelength picture, archival UV and X-ray observations with the Swift satellite and optical observations with the ATOM telescope are also used. Results. Based on the observations with H.E.S.S., 1ES 0414+009 is detected for the first time in the VHE band. An excess of 224 events is measured, corresponding to a significance of 7.8 sigma. The photon spectrum of the source is well described by a power law, with photon index of Gamma(VHE) = 3.45 +/- 0.25(stat) +/- 0.20(syst). The integral flux above 200 GeV is (1.88 +/- 0.20(stat) +/- 0.38(syst)) x10(-12) cm(-2) s(-1). Observations with the Fermi-LAT in the first 20 months of operation show a flux between 200 MeV and 100 GeV of (2.3 +/- 0.2(stat)) x 10(-9) erg cm(-2) s(-1), and a spectrum well described by a power-law function with a photon index Gamma(HE) = 1.85 +/- 0.18. Swift/XRT observations show an X-ray flux between 2 and 10 keV of (0.8-1) x 10(-11) erg cm(-2) s(-1), and a steep spectrum Gamma(X) = (2.2-2.3). Combining X-ray with optical-UV data, a fit with a log-parabolic function locates the synchrotron peak around 0.1 keV. Conclusions. Although the GeV-TeV observations do not provide better constraints on the EBL than previously obtained, they confirm a low density of the EBL, close to the lower limits from galaxy counts. The absorption-corrected HE and VHE gamma-ray spectra are both hard and have similar spectral indices (approximate to 1.86), indicating no significant change of slope between the HE and VHE gamma-ray bands, and locating the gamma-ray peak in the SED above 1-2 TeV. As for other TeV BL Lac objects with the gamma-ray peak at such high energies and a large separation between the two SED humps, this average broad-band SED represents a challenge for simple one-zone synchrotron self-Compton models, requiring a high Doppler factor and very low B-field.
80.	Abramowski, A., et al. (författare) Discovery of VHE emission towards the Carina arm region with the HESS telescope array : HESSJ1018-589 2012 Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 541, s. A5- Tidskriftsartikel (refereegranskat)abstract The Carina arm region, containing the supernova remnant SNRG284.3-1.8, the high-energy (HE; E > 100 MeV) binary 1FGL J1018.6-5856 and the energetic pulsar PSRJ1016-5857 and its nebula, has been observed with the H. E. S. S. telescope array. The observational coverage of the region in very-high-energy (VHE; E > 0.1TeV) gamma-rays benefits from deep exposure (40 h) of the neighboring open cluster Westerlund 2. The observations have revealed a new extended region of VHE gamma-ray emission. The new VHE source HESS J1018-589 shows a bright, point-like emission region positionally coincident with SNRG284.3-1.8 and 1FGL J1018.6-5856 and a diffuse extension towards the direction of PSRJ1016-5857. A soft (Gamma = 2.7 +/- 0.5(stat)) photon index, with a differential flux at 1 TeV of N-0 = (4.2 +/- 1.1) x 10(-13) TeV-1 cm(-2) s(-1) is found for the point-like source, whereas the total emission region including the diffuse emission region is well fit by a power-law function with spectral index Gamma = 2.9 +/- 0.4(stat) and differential flux at 1 TeV of N-0 = (6.8 +/- 1.6) x 10(-1)3 TeV-1 cm(-2) s(-1). This H. E. S. S. detection motivated follow-up X-ray observations with the XMM-Newton satellite to investigate the origin of the VHE emission. The analysis of the XMM-Newton data resulted in the discovery of a bright, non-thermal point-like source (XMMU J101855.4-58564) with a photon index of Gamma = 1.65 +/- 0.08 in the center of SNRG284.3-1.8, and a thermal, extended emission region coincident with its bright northern filament. The characteristics of this thermal emission are used to estimate the plasma density in the region as n approximate to 0.5 cm(-3) (2.9 kpc/d)(2). The position of XMMUJ101855.4-58564 is compatible with the position reported by the Fermi-LAT collaboration for the binary system 1FGL J1018.6-5856 and the variable Swift XRT source identified with it. The new X-ray data are used alongside archival multi-wavelength data to investigate the relationship between the VHE gamma-ray emission from HESS J1018-589 and the various potential counterparts in the Carina arm region.
81.	Abramowski, A., et al. (författare) Discovery of VHE gamma-ray emission and multi-wavelength observations of the BL Lacertae object 1RXSJ101015.9-311909 2012 Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 542, s. A94- Tidskriftsartikel (refereegranskat)abstract 1RXS J101015.9-311909 is a galaxy located at a redshift of z = 0.14 hosting an active nucleus (called AGN) belonging to the class of bright BL Lac objects. Observations at high (HE, E > 100 MeV) and very high (VHE, E > 100 GeV) energies provide insights into the origin of very energetic particles present in such sources and the radiation processes at work. We report on results from VHE observations performed between 2006 and 2010 with the H. E. S. S. instrument, an array of four imaging atmospheric Cherenkov telescopes. H. E. S. S. data have been analysed with enhanced analysis methods, making the detection of faint sources more significant. VHE emission at a position coincident with 1RXS J101015.9-311909 is detected with H. E. S. S. for the first time. In a total good-quality livetime of about 49 h, we measure 263 excess counts, corresponding to a significance of 7.1 standard deviations. The photon spectrum above 0.2 TeV can be described by a power-law with a photon index of Gamma = 3.08 +/- 0.42(stat) +/- 0.20(sys). The integral flux above 0.2 TeV is about 0.8% of the flux of the Crab nebula and shows no significant variability over the time reported. In addition, public Fermi/LAT data are analysed to search for high energy emission from the source. The Fermi/LAT HE emission in the 100 MeV to 200 GeV energy range is significant at 8.3 standard deviations in the chosen 25-month dataset. UV and X-ray contemporaneous observations with the Swift satellite in May 2007 are also reported, together with optical observations performed with the atom telescope located at the H. E. S. S. site. Swift observations reveal an absorbed X-ray flux of F(0.3-7) keV = 1.04(-0.05)(+0.04) x 10(-11) erg cm(-2) s(-1) in the 0.3-7 keV range. Finally, all the available data are used to study the multi-wavelength properties of the source. The spectral energy distribution (SED) can be reproduced using a simple one-zone Synchrotron Self Compton (SSC) model with emission from a region with a Doppler factor of 30 and a magnetic field between 0.025 and 0.16 G. These parameters are similar to those obtained for other sources of this type.
82.	Abramowski, A., et al. (författare) Search for dark matter annihilation signals from the Fornax galaxy cluster with H.E.S.S. 2012 Ingår i: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 750:2 Tidskriftsartikel (refereegranskat)abstract The Fornax galaxy cluster was observed with the High Energy Stereoscopic System for a total live time of 14.5 hr, searching for very high energy (VHE; E > 100GeV) gamma-rays from dark matter (DM) annihilation. No significant signal was found in searches for point-like and extended emissions. Using several models of the DM density distribution, upper limits on the DM velocity-weighted annihilation cross-section as a function of the DM particle mass are derived. Constraints are derived for different DM particle models, such as those arising from Kaluza-Klein and supersymmetric models. Various annihilation final states are considered. Possible enhancements of the DM annihilation gamma-ray flux, due to DM substructures of the DM host halo, or from the Sommerfeld effect, are studied. Additional gamma-ray contributions from internal bremsstrahlung and inverse Compton radiation are also discussed. For a DM particle mass of 1 TeV, the exclusion limits at 95% of confidence level reach values of (95% C.L.) similar to 10(-23) cm(3) s(-1), depending on the DM particle model and halo properties. Additional contribution from DM substructures can improve the upper limits on by more than two orders of magnitude. At masses around 4.5 TeV, the enhancement by substructures and the Sommerfeld resonance effect results in a velocity-weighted annihilation cross-section upper limit at the level of (95% C.L.) similar to 10(-26) cm(3) s(-1).
83.	Aharonian, F., et al. (författare) Discovery of VHE gamma-rays from the BL Lacertae object PKS 0548-322 2010 Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 521, s. A69- Tidskriftsartikel (refereegranskat)abstract Aims. PKS 0548-322 (z = 0.069) is a "high-frequency-peaked" BL Lac object and a candidate very high energy (VHE, E > 100 GeV) gamma-ray emitter, due to its high X-ray and radio flux. Observations at the VHE band provide insights into the origin of very energetic particles present in this source and the radiation processes at work. Methods. We report observations made between October 2004 and January 2008 with the HESS array, a four imaging atmospheric-Cherenkov telescopes. Contemporaneous UV and X-ray observations with the Swift satellite in November 2006 are also reported. Results. PKS 0548-322 is detected for the first time in the VHE band with HESS We measure an excess of 216 gamma-rays corresponding to a significance of 5.6 standard deviations. The photon spectrum of the source is described by a power-law, with a photon index of Gamma = 2.86 +/- 0.34(stat) +/- 0.10(sys). The integral flux above 200 GeV is similar to 1.3% of the flux of the Crab Nebula, and is consistent with being constant in time. Contemporaneous Swift/XRT observations reveal an X-ray flux between 2 and 10 keV of F2-10 keV = (2.3 +/- 0.2) x 10(-11) erg cm(-2) s(-1), an intermediate intensity state with respect to previous observations. The spectral energy distribution can be reproduced using a simple one-zone synchrotron self Compton model, with parameters similar those observed for other sources of this type.
84.	Aharonian, F., et al. (författare) Probing the ATIC peak in the cosmic-ray electron spectrum with HESS 2009 Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 508:2, s. 561-564 Tidskriftsartikel (refereegranskat)abstract The measurement of an excess in the cosmic-ray electron spectrum between 300 and 800 GeV by the ATIC experiment has - together with the PAMELA detection of a rise in the positron fraction up to approximate to 100 GeV - motivated many interpretations in terms of dark matter scenarios; alternative explanations assume a nearby electron source like a pulsar or supernova remnant. Here we present a measurement of the cosmic-ray electron spectrum with H. E. S. S. starting at 340 GeV. While the overall electron flux measured by H. E. S. S. is consistent with the ATIC data within statistical and systematic errors, the H. E. S. S. data exclude a pronounced peak in the electron spectrum as suggested for interpretation by ATIC. The H. E. S. S. data follow a power-law spectrum with spectral index of 3.0 +/- 0.1(stat.) +/- 0.3(syst.), which steepens at about 1 TeV.
85.	Al-Jamal, RT, et al. (författare) The Pediatric Choroidal and Ciliary Body Melanoma Study: A Survey by the European Ophthalmic Oncology Group 2016 Ingår i: Ophthalmology. - : Elsevier BV. - 1549-4713 .- 0161-6420. ; 123:4, s. 898-907 Tidskriftsartikel (refereegranskat)
86.	Azzimato, V, et al. (författare) Hepatic miR-144 Drives Fumarase Activity Preventing NRF2 Activation During Obesity 2021 Ingår i: Gastroenterology. - : Elsevier BV. - 1528-0012 .- 0016-5085. ; 161:6, s. 1982- Tidskriftsartikel (refereegranskat)
87.	Azzimato, V, et al. (författare) Hepatic miR-144 drives fumarase activity preventing NRF2 activation during obesity 2022 Ingår i: JOURNAL OF HEPATOLOGY. - 0168-8278. ; 77, s. S665-S666 Konferensbidrag (övrigt vetenskapligt/konstnärligt)
88.	Azzimato, V, et al. (författare) Liver macrophages inhibit the endogenous antioxidant response in obesity-associated insulin resistance 2020 Ingår i: Science translational medicine. - : American Association for the Advancement of Science (AAAS). - 1946-6242 .- 1946-6234. ; 12:532 Tidskriftsartikel (refereegranskat)abstract Liver macrophages exacerbate oxidative stress in obesity-induced hepatic steatosis by blocking the endogenous antioxidant response.
89.	Baxter, JS, et al. (författare) Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element 2021 Ingår i: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 108:7, s. 1190-1203 Tidskriftsartikel (refereegranskat)
90.	Beecham, Ashley H, et al. (författare) Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. 2013 Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:11, s. 1353-60 Tidskriftsartikel (refereegranskat)abstract Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10(-4)). In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls. In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 5.0 × 10(-8)), 3 of which we found after conditioning on previously identified variants. Thus, there are now 110 established multiple sclerosis risk variants at 103 discrete loci outside of the major histocompatibility complex. With high-resolution Bayesian fine mapping, we identified five regions where one variant accounted for more than 50% of the posterior probability of association. This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals.
91.	Dennis, J, et al. (författare) Rare germline copy number variants (CNVs) and breast cancer risk 2022 Ingår i: Communications biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 5:1, s. 65- Tidskriftsartikel (refereegranskat)abstract Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes and non-coding regions for 86,788 breast cancer cases and 76,122 controls of European ancestry with genome-wide array data. Gene burden tests detected the strongest association for deletions in BRCA1 (P = 3.7E−18). Nine other genes were associated with a p-value < 0.01 including known susceptibility genes CHEK2 (P = 0.0008), ATM (P = 0.002) and BRCA2 (P = 0.008). Outside the known genes we detected associations with p-values < 0.001 for either overall or subtype-specific breast cancer at nine deletion regions and four duplication regions. Three of the deletion regions were in established common susceptibility loci. To the best of our knowledge, this is the first genome-wide analysis of rare CNVs in a large breast cancer case-control dataset. We detected associations with exonic deletions in established breast cancer susceptibility genes. We also detected suggestive associations with non-coding CNVs in known and novel loci with large effects sizes. Larger sample sizes will be required to reach robust levels of statistical significance.
92.	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.
93.	Direk, N, et al. (författare) An Analysis of Two Genome-wide Association Meta-analyses Identifies a New Locus for Broad Depression Phenotype 2017 Ingår i: Biological psychiatry. - : Elsevier BV. - 1873-2402 .- 0006-3223. ; 82:5, s. 322-329 Tidskriftsartikel (refereegranskat)
94.	Dumitrescu, L., et al. (författare) Sex differences in the genetic predictors of Alzheimer's pathology 2019 Ingår i: Brain. - : Oxford University Press (OUP). - 0006-8950 .- 1460-2156. ; 142, s. 2581-2589 Tidskriftsartikel (refereegranskat)abstract Autopsy measures of Alzheimer's disease neuropathology have been leveraged as endophenotypes in previous genome-wide association studies (GWAS). However, despite evidence of sex differences in Alzheimer's disease risk, sex-stratified models have not been incorporated into previous GWAS analyses. We looked for sex-specific genetic associations with Alzheimer's disease endophenotypes from six brain bank data repositories. The pooled dataset included 2701 males and 3275 females, the majority of whom were diagnosed with Alzheimer's disease at autopsy (70%). Sex-stratified GWAS were performed within each dataset and then meta-analysed. Loci that reached genome-wide significance (P < 5 x 10(-8)) in stratified models were further assessed for sex interactions. Additional analyses were performed in independent datasets leveraging cognitive, neuroimaging and CSF endophenotypes, along with age-at-onset data. Outside of the APOE region, one locus on chromosome 7 (rs34331204) showed a sex-specific association with neurofibrillary tangles among males (P = 2.5 x 10(-8)) but not females (P = 0.85, sex-interaction P = 2.9 x 10(-4)). In follow-up analyses, rs34331204 was also associated with hippocampal volume, executive function, and age-at-onset only among males. These results implicate a novel locus that confers male-specific protection from tau pathology and highlight the value of assessing genetic associations in a sex-specific manner.
95.	Dutta, D, et al. (författare) Nuclear transparency with the gamma n ->pi(-)p process in He-4 2003 Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 68:2: 021001 Tidskriftsartikel (refereegranskat)abstract We have measured the nuclear transparency of the fundamental process gamman-->pi(-)p in He-4. These measurements were performed at Jefferson Lab in the photon energy range of 1.6-4.5 GeV and at theta(cm)(pi)=70degrees and 90degrees. These measurements are the first of their kind in the study of nuclear transparency in photoreactions. They also provide a benchmark test of Glauber calculations based on traditional models of nuclear physics. The transparency results suggest deviations from the traditional nuclear physics picture. The momentum transfer dependence of the measured nuclear transparency is consistent with Glauber calculations that include the quantum chromodynamics phenomenon of color transparency.
96.	Geyer, CE, et al. (författare) Overall survival in the OlympiA phase III trial of adjuvant olaparib in patients with germline pathogenic variants in BRCA1/2 and high-risk, early breast cancer 2022 Ingår i: Annals of oncology : official journal of the European Society for Medical Oncology. - 1569-8041. ; 33:12, s. 1250-1268 Tidskriftsartikel (refereegranskat)
97.	Karbach, J, et al. (författare) Phase I clinical trial of mixed bacterial vaccine (Coley's toxins) in patients with NY-ESO-1 expressing cancers: immunological effects and clinical activity 2012 Ingår i: Clinical cancer research : an official journal of the American Association for Cancer Research. - 1557-3265. ; 18:19, s. 5449-5459 Tidskriftsartikel (refereegranskat)
98.	Kowalec, K., et al. (författare) Genome-wide scan identifies association between an interferon regulatory factor-related variant and interferon-beta induced liver injury in multiple sclerosis patients 2016 Ingår i: Multiple Sclerosis Journal. - : SAGE PUBLICATIONS LTD. - 1352-4585 .- 1477-0970. ; 22:3, s. 834-836 Tidskriftsartikel (refereegranskat)
99.	Lambert, JC, et al. (författare) Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease 2013 Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:12, s. 1452-U206 Tidskriftsartikel (refereegranskat)
100.	Meng, QD, et al. (författare) Neoepitope targets of tumour-infiltrating lymphocytes from patients with pancreatic cancer 2019 Ingår i: British journal of cancer. - : Springer Science and Business Media LLC. - 1532-1827 .- 0007-0920. ; 120:1, s. 97-108 Tidskriftsartikel (refereegranskat)

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