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| 7. |
- Allaria, E., et al.
(författare)
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Highly coherent and stable pulses from the FERMI seeded free-electron laser in the extreme ultraviolet
- 2012
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Ingår i: Nature Photonics. - 1749-4885. ; 6:10, s. 699-704
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Tidskriftsartikel (refereegranskat)abstract
- Free-electron lasers (FELs) are promising devices for generating light with laser-like properties in the extreme ultraviolet and X-ray spectral regions. Recently, FELs based on the self-amplified spontaneous emission (SASE) mechanism have allowed major breakthroughs in diffraction and spectroscopy applications, despite the relatively large shot-to-shot intensity and photon-energy fluctuations and the limited longitudinal coherence inherent in the SASE mechanism. Here, we report results on the initial performance of the FERMI seeded FEL, based on the high-gain harmonic generation configuration, in which an external laser is used to initiate the emission process. Emission from the FERMI FEL-1 source occurs in the form of pulses carrying energy of several tens of microjoules per pulse and tunable throughout the 65 to 20 nm wavelength range, with unprecedented shot-to-shot wavelength stability, low-intensity fluctuations, close to transform-limited bandwidth, transverse and longitudinal coherence and full control of polarization.
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| 11. |
- Cozen, W., et al.
(författare)
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A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus
- 2014
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 5, s. 3856-
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Tidskriftsartikel (refereegranskat)abstract
- Recent genome-wide association studies (GWAS) of Hodgkin lymphoma (HL) have identified associations with genetic variation at both HLA and non-HLA loci; however, much of heritable HL susceptibility remains unexplained. Here we perform a meta-analysis of three HL GWAS totaling 1,816 cases and 7,877 controls followed by replication in an independent set of 1,281 cases and 3,218 controls to find novel risk loci. We identify a novel variant at 19p13.3 associated with HL (rs1860661; odds ratio (OR) = 0.81, 95% confidence interval (95% CI) = 0.76-0.86, P-combined 3.5 x 10(-10)), located in intron 2 of TCF3 (also known as E2A), a regulator of B-and T-cell lineage commitment known to be involved in HL pathogenesis. This meta-analysis also notes associations between previously published loci at 2p16, 5q31, 6p31, 8q24 and 10p14 and HL subtypes. We conclude that our data suggest a link between the 19p13.3 locus, including TCF3, and HL risk.
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| 12. |
- Dragani, B, et al.
(författare)
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Role of conserved local motifs in folding and stability of hGSTP1-1
- 2001
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Ingår i: CHEMICO-BIOLOGICAL INTERACTIONS. - : ELSEVIER SCI IRELAND LTD. - 0009-2797. ; 133:1-3, s. 17-18
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Tidskriftsartikel (refereegranskat)abstract
- We investigated, by site directed mutagenesis, the role played by a conserved N-capping box and hydrophobic staple motif in the folding and stability of human GSTPl-1. The corresponding mutants, I149A, S150A, D153A and Y154A, in which these motifs have be
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- Feroci, M., et al.
(författare)
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Monitoring the hard X-ray sky with SuperAGILE
- 2010
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 510, s. A9-
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Tidskriftsartikel (refereegranskat)abstract
- Context SuperAGILE is the hard X-ray monitor of the AGILE gamma ray mission, in orbit since 23 April 2007. It is an imaging experiment based on a set of four independent silicon strip detectors, equipped with one-dimensional coded masks, operating in the nominal energy range 18-60 keV. Aims. The main goal of SuperAGILE is the observation of cosmic sources simultaneously with the main gamma-ray AGILE experiment, the Gamma Ray Imaging Detector (GRID). Given its similar to steradian-wide field of view and its similar to 15 mCrab day-sensitivity, SuperAGILE is also well suited to the long-term monitoring of Galactic compact objects and the detection of bright transients. Methods. The SuperAGILE detector properties and design allow for a 6 arcmin angular resolution in each of the two independent orthogonal projections of the celestial coordinates. Photon by photon data are continuously available by means of experiment telemetry, and are used to derive images and fluxes of individual sources, with integration times depending on the source intensity and position in the field of view. Results. We report on the main scientific results achieved by SuperAGILE over its first two years in orbit, until April 2009. The scientific observations started in mid-July 2007, with the science verification phase, continuing during the complete AGILE Cycle 1 and the first similar to half of Cycle 2. Despite the largely non-uniform sky coverage, due to the pointing strategy of the AGILE mission, a few tens of Galactic sources were monitored, sometimes for unprecedently long continuous periods, leading to the detection also of several bursts and outbursts. Approximately one gamma ray burst per month was detected and localized, allowing for prompt multi-wavelength observations. A few extragalactic sources in bright states were occasionally detected as well. The light curves of sources measured by SuperAGILE are made publicly available on the web in almost real-time. To enable a proper scientific use of these, we provide the reader with the relevant scientific and technical background.
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| 14. |
- Marisaldi, M., et al.
(författare)
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Detection of terrestrial gamma ray flashes up to 40 MeV by the AGILE satellite
- 2010
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Ingår i: Journal of Geophysical Research. - 0148-0227 .- 2156-2202. ; 115:3, s. A00E13-
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Tidskriftsartikel (refereegranskat)abstract
- We report the detection by the Astrorivelatore Gamma a Immagini Leggero (AGILE) satellite of terrestrial gamma ray flashes (TGFs) obtained with the minicalorimeter (MCAL) detector operating in the energy range 0.3-100 MeV. We select events typically lasting a few milliseconds with spectral and directional selections consistent with the TGF characteristics previously reported by other space missions. During the period 1 June 2008 to 31 March 2009 we detect 34 high-confidence events showing millisecond durations and a geographical distribution peaked over continental Africa and Southeast Asia. For the first time, AGILE-MCAL detects photons associated with TGF events up to 40 MeV. We determine the cumulative spectral properties of the spectrum in the range 0.5-40 MeV, which can be effectively described by a Bremsstrahlung spectrum. We find that both the TGF cumulative spectral properties and their geographical distribution are in good agreement with the Reuven Ramaty High Energy Solar Spectroscopic Imager (RHESSI) results.
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| 15. |
- Pittori, C., et al.
(författare)
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First AGILE catalog of high-confidence gamma-ray sources
- 2009
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 506:3, s. 1563-1574
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Tidskriftsartikel (refereegranskat)abstract
- We present the first catalog of high-confidence gamma-ray sources detected by the AGILE satellite during observations performed from July 9, 2007 to June 30, 2008. Cataloged sources were detected by merging all the available data over the entire time period. AGILE, launched in April 2007, is an ASI mission devoted to gamma-ray observations in the 30 MeV-50 GeV energy range, with simultaneous X-ray imaging capability in the 18-60 keV band. This catalog is based on Gamma-Ray Imaging Detector (GRID) data for energies greater than 100 MeV. For the first AGILE catalog, we adopted a conservative analysis, with a high-quality event filter optimized to select gamma-ray events within the central zone of the instrument field of view (radius of 40 degrees). This is a significance-limited (4 sigma) catalog, and it is not a complete flux-limited sample due to the non-uniform first-year AGILE sky coverage. The catalog includes 47 sources, 21 of which are associated with confirmed or candidate pulsars, 13 with blazars (7 FSRQ, 4 BL Lacs, 2 unknown type), 2 with HMXRBs, 2 with SNRs, 1 with a colliding-wind binary system, and 8 with unidentified sources.
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- Rubbia, C, et al.
(författare)
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Underground operation of the ICARUS T600 LAr-TPC : first results
- 2011
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Ingår i: Journal of Instrumentation. ; 6:07
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Tidskriftsartikel (refereegranskat)abstract
- Important open questions are still present in fundamental Physics and Cosmology, like the nature of Dark Matter, the matter-antimatter asymmetry and the validity of the Standard Model of particle interactions. Addressing these questions requires a new generation of massive particle detectors to explore the subatomic and astrophysical worlds. ICARUS T600 is the first large mass (760 tons) example of a new generation of detectors able to combine the imaging capabilities of the old famous “bubble chamber” with the excellent energy measurement of huge electronic detectors. ICARUS T600 now operates at the Gran Sasso underground laboratory and is used to study cosmic rays, neutrino oscillations and the proton decay. The potential for doing physics of this novel telescope is presented through a few examples of neutrino interactions reconstructed with unprecedented detail. Detector design and early operation are also reported.
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- Ankowski, A., et al.
(författare)
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Energy reconstruction of electromagnetic showers from Ν0 decays with the ICARUS T600 liquid argon TPC
- 2010
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Ingår i: Acta Physica Polonica, Series B.. - 1509-5770 .- 0587-4254. ; 41:1, s. 103-125
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Tidskriftsartikel (refereegranskat)abstract
- We discuss the ICARUS T600 detector capabilities in electromagnetic shower reconstruction through the analysis of a sample of 212 events, coming from the 2001 Pavia surface test run, of hadronic interactions leading to the production of π 0 mesons. Methods of shower energy and shower direction measurements were developed and the invariant mass of the photon pairs was reconstructed. The (γγ) invariant mass was found to be consistent with the value of the π 0 mass. The resolution of the reconstructed π 0 mass was found to be equal to 27.3%. An improved analysis, carried out in order to clean the full event sample from the events measured in the crowded environment, mostly due to the trigger conditions, gave a π 0 mass resolution of 16.1%, significantly better than the one evaluated for the full event sample. The trigger requirement of the coincidence of at least four photo-multiplier signals favored the selection of events with a strong pile up of cosmic ray tracks and interactions. Hence a number of candidate π 0 events were heavily contaminated by other tracks and had to be rejected. Monte Carlo simulations of events with π 0 production in hadronic and neutrino interactions confirmed the validity of the shower energy and shower direction reconstruction methods applied to the real data.
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| 21. |
- Ankowski, A, et al.
(författare)
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Energy reconstruction of electromagnetic showers from π0 decays with the ICARUS T600 liquid argon TPC
- 2010
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Ingår i: Acta Physica Polonica B. - : Jagellonian University. - 0587-4254 .- 1509-5770. ; 41:1, s. 103-125
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Tidskriftsartikel (refereegranskat)abstract
- We discuss the ICARUS T600 detector capabilities in electromagnetic shower reconstruction through the analysis of a sample of 212 events, coming from the 2001 Pavia surface test run, of hadronic interactions leading to the production of π0 mesons. Methods of shower energy and shower direction measurements were developed and the invariant mass of the photon pairs was reconstructed. The (γ,γ) invariant mass was found to be consistent with the value of the π0 mass. The resolution of the reconstructed π0 mass was found to be equal to 27.3%. An improved analysis, carried out in order to clean the full event sample from the events measured in the crowded environment, mostly due to the trigger conditions, gave a π0 mass resolution of 16.1%, significantly better than the one evaluated for the full event sample. The trigger requirement of the coincidence of at least four photo-multiplier signals favored the selection of events with a strong pile up of cosmic ray tracks and interactions. Hence a number of candidate π0 events were heavily contaminated by other tracks and had to be rejected. Monte Carlo simulations of events with π0 production in hadronic and neutrino interactions confirmed the validity of the shower energy and shower direction reconstruction methods applied to the real data.
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| 23. |
- 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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- Hensiek, A E, et al.
(författare)
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Familial effects on the clinical course of multiple sclerosis.
- 2007
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Ingår i: Neurology. - : Ovid Technologies (Wolters Kluwer Health). - 1526-632X .- 0028-3878. ; 68:5, s. 376-83
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Familial factors influence susceptibility to multiple sclerosis (MS) but it is unknown whether there are additional effects on the natural history of the disease. METHOD: We evaluated 1,083 families with > or =2 first-degree relatives with MS for concordance of age at onset, clinical course, and disease severity and investigated transmission patterns of these clinical features in affected parent-child pairs. RESULTS: There is concordance for age at onset for all families (correlation coefficient 0.14; p < 0.001), as well as for affected siblings (correlation coefficient 0.15; p < 0.001), and affected parent-child pairs (correlation coefficient 0.12; p = 0.03) when each is evaluated separately. Concordance for year of onset is present among affected siblings (correlation coefficient 0.18; p < 0.001) but not the parent-child group (correlation coefficient 0.08; p = 0.15). The clinical course is similar between siblings (kappa 0.12; p < 0.001) but not affected parents and their children (kappa -0.04; p = 0.09). This influence on the natural history is present in all clinical subgroups of relapsing-remitting, and primary and secondary progressive MS, reflecting a familial effect on episodic and progressive phases of the disease. There is no concordance for disease severity within any of the considered family groups (correlation coefficients: all families analyzed together, 0.02, p = 0.53; affected sibling group, 0.02, p = 0.61; affected parent-child group, 0.02, p = 0.69). Furthermore, there are no apparent transmission patterns of any of the investigated clinical features in affected parent-child pairs and no evidence for anticipation or effects of genetic loading. CONCLUSION: Familial factors do not significantly affect eventual disease severity. However, they increase the probability of a progressive clinical course, either from onset or after a phase of relapsing remitting disease. The familial effect is more likely to reflect genetic than environmental conditions. The results are relevant for counseling patients and have implications for the design of studies seeking to identify factors that influence the natural history of the disease.
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- Pearce, Neil E, et al.
(författare)
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IARC Monographs : 40 Years of Evaluating Carcinogenic Hazards to Humans
- 2015
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Ingår i: Journal of Environmental Health Perspectives. - : Environmental Health Perspectives. - 0091-6765 .- 1552-9924. ; 123:6, s. 507-514
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Recently the International Agency for Research on Cancer (IARC) Programme for the Evaluation of Carcinogenic Risks to Humans has been criticized for several of its evaluations, and also the approach used to perform these evaluations. Some critics have claimed that IARC Working Groups' failures to recognize study weaknesses and biases of Working Group members have led to inappropriate classification of a number of agents as carcinogenic to humans.OBJECTIVES: The authors of this paper are scientists from various disciplines relevant to the identification and hazard evaluation of human carcinogens. We have examined here criticisms of the IARC classification process to determine the validity of these concerns. We review the history of IARC evaluations and describe how the IARC evaluations are performed.DISCUSSION: We conclude that these recent criticisms are unconvincing. The procedures employed by IARC to assemble Working Groups of scientists from the various discipline and the techniques followed to review the literature and perform hazard assessment of various agents provide a balanced evaluation and an appropriate indication of the weight of the evidence. Some disagreement by individual scientists to some evaluations is not evidence of process failure. The review process has been modified over time and will undoubtedly be altered in the future to improve the process. Any process can in theory be improved, and we would support continued review and improvement of the IARC processes. This does not mean, however, that the current procedures are flawed.CONCLUSIONS: The IARC Monographs have made, and continue to make, major contributions to the scientific underpinning for societal actions to improve the public's health.
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| 33. |
- Percetti, M., et al.
(författare)
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TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study
- 2022
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Ingår i: Movement Disorders. - : Wiley. - 0885-3185 .- 1531-8257. ; 37:9, s. 1938-1943
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Tidskriftsartikel (refereegranskat)abstract
- Background Parkinsonian features have been described in patients harboring variants in nuclear genes encoding for proteins involved in mitochondrial DNA maintenance, such as TWNK. Objectives The aim was to screen for TWNK variants in an Italian cohort of Parkinson's disease (PD) patients and to assess the occurrence of parkinsonism in patients presenting with TWNK-related autosomal dominant progressive external ophthalmoplegia (TWNK-adPEO). Methods Genomic DNA of 263 consecutively collected PD patients who underwent diagnostic genetic testing was analyzed with a targeted custom gene panel including TWNK, as well as genes causative of monogenic PD. Genetic and clinical data of 18 TWNK-adPEO patients with parkinsonism were retrospectively analyzed. Results Six of 263 PD patients (2%), presenting either with isolated PD (n = 4) or in combination with bilateral ptosis (n = 2), carried TWNK likely pathogenic variants. Among 18 TWNK-adPEO patients, 5 (28%) had parkinsonism. Conclusions We show candidate TWNK variants occurring in PD without PEO. This finding will require further confirmatory studies. (c) 2022 Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society.
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