| 1. |
- Aad, G., et al.
(författare)
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- 2012
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Tidskriftsartikel (refereegranskat)
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| 2. |
- Aad, G., et al.
(författare)
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- 2012
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Tidskriftsartikel (refereegranskat)
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| 3. |
- Aad, G., et al.
(författare)
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- 2012
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swepub:Mat__t (refereegranskat)
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| 4. |
- Aad, G., et al.
(författare)
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- 2012
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swepub:Mat__t (refereegranskat)
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| 5. |
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| 6. |
- Klionsky, Daniel J., et al.
(författare)
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Guidelines for the use and interpretation of assays for monitoring autophagy
- 2012
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Ingår i: Autophagy. - : Informa UK Limited. - 1554-8635 .- 1554-8627. ; 8:4, s. 445-544
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Forskningsöversikt (refereegranskat)abstract
- In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues to be confusion regarding acceptable methods to measure autophagy, especially in multicellular eukaryotes. A key point that needs to be emphasized is that there is a difference between measurements that monitor the numbers or volume of autophagic elements (e.g., autophagosomes or autolysosomes) at any stage of the autophagic process vs. those that measure flux through the autophagy pathway (i.e., the complete process); thus, a block in macroautophagy that results in autophagosome accumulation needs to be differentiated from stimuli that result in increased autophagic activity, defined as increased autophagy induction coupled with increased delivery to, and degradation within, lysosomes (in most higher eukaryotes and some protists such as Dictyostelium) or the vacuole (in plants and fungi). In other words, it is especially important that investigators new to the field understand that the appearance of more autophagosomes does not necessarily equate with more autophagy. In fact, in many cases, autophagosomes accumulate because of a block in trafficking to lysosomes without a concomitant change in autophagosome biogenesis, whereas an increase in autolysosomes may reflect a reduction in degradative activity. Here, we present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes. These guidelines are not meant to be a formulaic set of rules, because the appropriate assays depend in part on the question being asked and the system being used. In addition, we emphasize that no individual assay is guaranteed to be the most appropriate one in every situation, and we strongly recommend the use of multiple assays to monitor autophagy. In these guidelines, we consider these various methods of assessing autophagy and what information can, or cannot, be obtained from them. Finally, by discussing the merits and limits of particular autophagy assays, we hope to encourage technical innovation in the field.
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| 7. |
- Amelino-Camelia, G., et al.
(författare)
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Physics with the KLOE-2 experiment at the upgraded DA Phi NE
- 2010
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Ingår i: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 68:3-4, s. 619-681
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Forskningsöversikt (refereegranskat)abstract
- Investigation at a f-factory can shed light on several debated issues in particle physics. We discuss: (i) recent theoretical development and experimental progress in kaon physics relevant for the Standard Model tests in the flavor sector, (ii) the sensitivity we can reach in probing CPT and Quantum Mechanics from time evolution of entangled-kaon states, (iii) the interest for improving on the present measurements of non-leptonic and radiative decays of kaons and eta/eta' mesons, (iv) the contribution to understand the nature of light scalar mesons, and (v) the opportunity to search for narrow di-lepton resonances suggested by recent models proposing a hidden dark-matter sector. We also report on the e(+)e(-) physics in the continuum with the measurements of (multi) hadronic cross sections and the study of gamma gamma processes.
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| 8. |
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| 9. |
- Babusci, D., et al.
(författare)
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Precision measurement of sigma (e(+)e(-) -> pi(+)pi(-)gamma)/sigma(e(+)e(-) ->mu(+)mu(-)gamma) and determination of the pi(+)pi(-) contribution to the muon anomaly with the KLOE detector
- 2013
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Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 720:4-5, s. 336-343
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Tidskriftsartikel (refereegranskat)abstract
- We have measured the ratio cr (e(+)e(-) -> pi(+)pi(-)gamma)/sigma(e(+)e(-) -> mu(+)mu(-)gamma), with the KLOE detector at DA Phi NE for a total integrated luminosity of similar to 240 pb(-1). From this ratio we obtain the cross section sigma (e(+)e(-) -> pi(+)pi(-)gamma). From the cross section we determine the pion form factor vertical bar F-pi vertical bar(2) and the two-pion contribution to the muon anomaly a(mu) for 0.592< M-pi pi < 0.975 GeV, Delta(pi pi) a(mu) = (385.1 +/- 1.1(stat) +/- 2.7(sys+theo)) x 10(-10). This result confirms the current discrepancy between the Standard Model calculation and the experimental measurement of the muon anomaly. (c) 2013 Elsevier B.V. All rights reserved.
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| 10. |
- Archilli, F., et al.
(författare)
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Search for a vector gauge boson in phi meson decays with the KLOE detector KLOE-2 Collaboration
- 2012
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Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 706:4-5, s. 251-255
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Tidskriftsartikel (refereegranskat)abstract
- The existence of a light dark force mediator has been tested with the KLOE detector at DA Phi NE. This particle, called U. is searched for using the decay chain phi -> eta U, eta -> pi(+)pi(-)pi(0), U -> e(+)e(-). No evidence is found in 1.5 fb(-1) of data. The resulting exclusion plot covers the mass range 5 < M-U < 470 MeV, setting an upper limit on the ratio between the U boson coupling constant and the One structure constant, alpha'/alpha, of <= 2 x 10(-5) at 90% C.L. for 50 < M-U < 420 MeV.
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| 11. |
- Babusci, D., et al.
(författare)
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Search for light vector boson production in e(+)e(-) -> mu(+)mu(-)gamma interactions with the KLOE experiment
- 2014
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Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 736, s. 459-464
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Tidskriftsartikel (refereegranskat)abstract
- We have searched for a light vector boson U, the possible carrier of a "dark force", with the KLOE detector at the DA Phi NE e(+)e(-) collider, motivated by astrophysical evidence for the presence of dark matter in the Universe. Using e(+)e(-) collisions collected with an integrated luminosity of 239.3 pb(-1), we look for a dimuon mass peak in the reaction e(+)e(-) -> mu(+)mu(-)gamma, corresponding to the decay U -> mu(+)mu(-). We find no evidence for a U vector boson signal. We set a 90% CL upper limit for the mixing parameter squared between the photon and the U boson of 1.6 x 10(-5) to 8.6 x 10(-7) for the mass region 520 < m(U) < 980 MeV.
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| 12. |
- Babusci, D., et al.
(författare)
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Test of CPT and Lorentz symmetry in entangled neutral kaons with the KLOE experiment
- 2014
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Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 730, s. 89-94
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Tidskriftsartikel (refereegranskat)abstract
- Neutral kaon pairs produced in phi decays in anti-symmetric entangled state can be exploited to search for violation of CPT symmetry and Lorentz invariance. We present an analysis of the CP-violating process phi -> KSKL -> pi(+)pi(-)pi(+)pi(-) based on 1.7 fb(-1) of data collected by the KLOE experiment at the Frascati phi-factory DA Phi NE. The data are used to perform a Measurement of the CPT-violating parameters Delta a(mu) for neutral kaons in the context of the Standard Model Extension framework. The parameters measured in the reference frame of the fixed stars are: Delta a(0) = (-6.0 +/- 7.7(stat)+/- 3.1(syst)) X 10(-18) GeV, Delta a(x) = (0.9 +/- 1.5(stat)+/- 0.6(syst)) X 10(-18) GeV, Delta a(y) = (-2.0 +/- 1.5(stat)+/- 0.5(syst)) X 10(-18) GeV, Delta a(z) = (3.1 +/- 1.7(stat)+/- 0.5(syst)) X 10(-18) GeV. These are presently the most precise measurements in the quark sector of the Standard Model Extension. (C) 2014 The Authors. Published by Elsevier B.V.
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| 13. |
- Babuscih, D., et al.
(författare)
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Measurement of the absolute branching ratio of the K+ -> pi(+) pi(-) pi(+) (gamma) decay with the KLOE detector
- 2014
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Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 738, s. 128-133
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Tidskriftsartikel (refereegranskat)abstract
- The absolute branching ratio of the K+ -> pi(+) pi(-) pi(+) (gamma) decay, inclusive of final-state radiation, has been measured using similar to 17 million tagged K+ mesons collected with the KLOE detector at DA Phi NE, the Frascati phi-factory. The result is: BR(K+ -> pi(+) pi(-) pi(+) (gamma)) = 0.05565 +/- 0.00031(stat) +/- 0.00025(syst) a factor similar or equal to 5 more precise with respect to the previous result. This work completes the program of precision measurements of the dominant kaon branching ratios at KLOE.
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| 14. |
- Babusci, D., et al.
(författare)
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A new limit on the CP violating decay K-S -> 3 pi(0) with the KLOE experiment
- 2013
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Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 723:1-3, s. 54-60
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Tidskriftsartikel (refereegranskat)abstract
- We have carried out a new direct search for the CP violating decay K-S -> 3 pi(0) with 1.7 fb(-1) of e(+)e(-) collisions collected by the KLOE detector at the Phi-factory DA Phi NE. We have searched for this decay in a sample of about 5.9 x 10(8) KSKL events tagging the K-S by means of the K-L interaction in the calorimeter and requiring six prompt photons. With respect to our previous search, the analysis has been improved by increasing of a factor four the tagged sample and by a more effective background rejection of fake K-S tags and spurious clusters. We find no candidates in data and simulated background samples, while we expect 0.12 standard model events. Normalizing to the number of K-S -> 2 pi(0) events in the same sample, we set the upper limit on BR(K-S -> 3 pi(0)) <= 2.6 x 10(-8) at 90% C.L., five times lower than the previous limit. We also set the upper limit on the eta(000) parameter, vertical bar eta(000)vertical bar <= 0.0088 at 90% C.L., improving by a factor two the latest direct measurement. (c) 2013 Elsevier B.V. All rights reserved.
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| 15. |
- Babusci, D., et al.
(författare)
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Measurement of Γ(η→π+π-γ)/Γ(η→π+π-π0) with the KLOE detector
- 2013
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Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 718:3, s. 910-914
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Tidskriftsartikel (refereegranskat)abstract
- The ratio Rη=Γ(η→π+π-γ)/Γ(η→π+π-π0) has been measured by analysing 22 million φ→ηγ decays collected by the KLOE experiment at DAΦNE, corresponding to an integrated luminosity of 558 pb-1. The η→π+π-γ proceeds both via the ρ resonant contribution, and possibly a non-resonant direct term, connected to the box anomaly. Our result, Rη=0.1856±0.0005stat±0.0028syst, points out a sizable contribution of the direct term to the total width. The di-pion invariant mass for the η→π+π-γ decay could be described in a model-independent approach in terms of a single free parameter, α. The determined value of the parameter α is α=(1.32±0.08stat-0.09syst+0.10±0.02theo) GeV-2.
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| 16. |
- van der Harst, Pim, et al.
(författare)
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Seventy-five genetic loci influencing the human red blood cell
- 2012
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 492:7429, s. 369-375
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Tidskriftsartikel (refereegranskat)abstract
- Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. To understand further the genetic factors influencing red blood cells, we carried out a genome-wide association study of haemoglobin concentration and related parameters in up to 135,367 individuals. Here we identify 75 independent genetic loci associated with one or more red blood cell phenotypes at P < 10(-8), which together explain 4-9% of the phenotypic variance per trait. Using expression quantitative trait loci and bioinformatic strategies, we identify 121 candidate genes enriched in functions relevant to red blood cell biology. The candidate genes are expressed preferentially in red blood cell precursors, and 43 have haematopoietic phenotypes in Mus musculus or Drosophila melanogaster. Through open-chromatin and coding-variant analyses we identify potential causal genetic variants at 41 loci. Our findings provide extensive new insights into genetic mechanisms and biological pathways controlling red blood cell formation and function.
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| 17. |
- Babusci, D., et al.
(författare)
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Limit on the production of a light vector gauge boson in phi meson decays with the KLOE detector
- 2013
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Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 720:1-3, s. 111-115
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Tidskriftsartikel (refereegranskat)abstract
- We present a new limit on the production of a light dark-force mediator with the KLOE detector at DA Phi NE. This boson, called U, has been searched for in the decay phi -> eta U, U -> e(+)e(-), analyzing the. decay eta -> pi(0)pi(0)pi(0) in a data sample of 1.7 fb(-1). No structures are observed in the e(+)e(-) invariant mass distribution over the background. This search is combined with a previous result obtained from the decay eta -> pi(+)pi(-)pi(0), increasing the sensitivity. We set an upper limit at 90% C.L. on the ratio between the U boson coupling constant and the fine structure constant of alpha'/alpha < 1.7 x 10(-5) for 30 < M-U < 400 MeV and alpha'/alpha <= 8 x 10(-6) for the sub-region 50 < M-U <210 MeV. This result assumes the Vector Meson Dominance expectations for the phi eta gamma* transition form factor. The dependence of this limit on the transition form factor has also been studied.
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| 18. |
- Babusci, D., et al.
(författare)
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Measurement of eta meson production in gamma gamma interactions and Gamma(eta -> gamma gamma) with the KLOE detector
- 2013
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Ingår i: Journal of High Energy Physics (JHEP). - 1126-6708 .- 1029-8479. ; :1, s. 119-
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Tidskriftsartikel (refereegranskat)abstract
- We present a measurement of eta meson production in photon-photon interactions produced by electron-positron beams colliding with root s = 1 GeV. The measurement is done with the KLOE detector at the phi-factory DA Phi NE with an integrated luminosity of 0.24 fb(-1). The e(+)e(-) -> e(+)e(-)eta cross section is measured without detecting the outgoing electron and positron, selecting the decays eta -> pi(+)pi(-)pi(0) and eta -> pi(0)pi(0)pi(0). The most relevant background is due to e(+)e(-) -> eta gamma when the monochromatic photon escapes detection. The cross section for this process is measured as sigma(e(+)e(-) -> eta gamma) = (856 +/- 8(stat) +/- 16(syst)) pb. The combined result for the e(+)e(-) -> e(+)e(-)eta cross section is sigma(e(+)e(-) -> e(+)e(-)eta) = (32.72 +/- 1.27(stat) +/- 0.70(syst)) pb. From this we derive the partial width Gamma(eta -> gamma gamma) = (520 +/- 20(stat) +/- 13(syst)) eV. This is in agreement with the world average and is the most precise measurement to date.
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| 19. |
- 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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| 20. |
- 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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| 21. |
- Skibola, Christine F, et al.
(författare)
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Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.
- 2014
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 95:4, s. 462-471
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWASs) of follicular lymphoma (FL) have previously identified human leukocyte antigen (HLA) gene variants. To identify additional FL susceptibility loci, we conducted a large-scale two-stage GWAS in 4,523 case subjects and 13,344 control subjects of European ancestry. Five non-HLA loci were associated with FL risk: 11q23.3 (rs4938573, p = 5.79 × 10(-20)) near CXCR5; 11q24.3 (rs4937362, p = 6.76 × 10(-11)) near ETS1; 3q28 (rs6444305, p = 1.10 × 10(-10)) in LPP; 18q21.33 (rs17749561, p = 8.28 × 10(-10)) near BCL2; and 8q24.21 (rs13254990, p = 1.06 × 10(-8)) near PVT1. In an analysis of the HLA region, we identified four linked HLA-DRβ1 multiallelic amino acids at positions 11, 13, 28, and 30 that were associated with FL risk (pomnibus = 4.20 × 10(-67) to 2.67 × 10(-70)). Additional independent signals included rs17203612 in HLA class II (odds ratio [ORper-allele] = 1.44; p = 4.59 × 10(-16)) and rs3130437 in HLA class I (ORper-allele = 1.23; p = 8.23 × 10(-9)). Our findings further expand the number of loci associated with FL and provide evidence that multiple common variants outside the HLA region make a significant contribution to FL risk.
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| 22. |
- Conde, Lucia, et al.
(författare)
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Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:8, s. 661-664
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Tidskriftsartikel (refereegranskat)abstract
- To identify susceptibility loci for non-Hodgkin lymphoma subtypes, we conducted a three-stage genome-wide association study. We identified two variants associated with follicular lymphoma at 6p21.32 (rs10484561, combined P = 1.12 x 10(-29) and rs7755224, combined P = 2.00 x 10(-19); r(2) = 1.0), supporting the idea that major histocompatibility complex genetic variation influences follicular lymphoma susceptibility. We also found confirmatory evidence of a previously reported association between chronic lymphocytic leukemia/small lymphocytic lymphoma and rs735665 (combined P = 4.24 x 10(-9)).
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| 23. |
- Beecham, Ashley H, et al.
(författare)
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Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
- 2013
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:11, s. 1353-60
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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.
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| 24. |
- Antoniou, Antonis C., et al.
(författare)
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A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 42:10, s. 885-892
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Tidskriftsartikel (refereegranskat)abstract
- Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 mutations who were diagnosed with invasive breast cancer under age 40 and 1,190 BRCA1 carriers without breast cancer diagnosis over age 35. We took forward 96 SNPs for replication in another 5,986 BRCA1 carriers (2,974 individuals with breast cancer and 3,012 unaffected individuals). Five SNPs on 19p13 were associated with breast cancer risk (P-trend = 2.3 x 10(-9) to Ptrend = 3.9 x 10(-7)), two of which showed independent associations (rs8170, hazard ratio (HR) = 1.26, 95% CI 1.17-1.35; rs2363956 HR = 0.84, 95% CI 0.80-0.89). Genotyping these SNPs in 6,800 population-based breast cancer cases and 6,613 controls identified a similar association with estrogen receptor-negative breast cancer (rs2363956 per-allele odds ratio (OR) = 0.83, 95% CI 0.75-0.92, P-trend = 0.0003) and an association with estrogen receptor-positive disease in the opposite direction (OR = 1.07, 95% CI 1.01-1.14, P-trend = 0.016). The five SNPs were also associated with triple-negative breast cancer in a separate study of 2,301 triple-negative cases and 3,949 controls (Ptrend = 1 x 10(-7) to Ptrend = 8 x 10(-5); rs2363956 per-allele OR = 0.80, 95% CI 0.74-0.87, P-trend = 1.1 x 10(-7)).
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| 25. |
- Osorio, Ana, et al.
(författare)
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DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
- 2014
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Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 10:4
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Tidskriftsartikel (refereegranskat)abstract
- Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of BRCA1 and BRCA2 mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of BRCA1 and BRCA2). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p<0.05 in the combined analysis. Four of the five genes for which strongest evidence of association was observed were DNA glycosylases. The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7×10-3) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8×10-3). DNA glycosylases involved in the first steps of the BER pathway may be associated with cancer risk in BRCA1/2 mutation carriers and should be more comprehensively studied.
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| 26. |
- Aloisio, A, et al.
(författare)
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An FPGA Based General Purpose DAQ Module for the KLOE-2 Experiment
- 2011
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Ingår i: Journal of Physics: Conference Series. ; 331
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Tidskriftsartikel (refereegranskat)abstract
- A general purpose FPGA based DAQ module has been developed based on a Virtex-4 FPGA. It is able to acquire up to 1024 different channels distributed over 10 slave cards. The module has an optical interface a RS-232 a USB and a Gigabit Interface. The KLOE-2 experiment is going to use it to collect data from the Inner tracker and the QCALT. An embedded processor (power pc 604) is present on the FPGA and a telnet server has been developed and installed. A new general purpose data taking system has been based on this module to acquire the Inner Tracker. The system is at the moment working at LNF (Laboratori Nazionali di Frascati).
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| 27. |
- Auner, H W., et al.
(författare)
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Reduced intensity-conditioned allogeneic stem cell transplantation for multiple myeloma relapsing or progressing after autologous transplantation: a study by the European Group for Blood and Marrow Transplantation
- 2013
-
Ingår i: Bone Marrow Transplantation. - : Nature Publishing Group: Open Access Hybrid Model Option B. - 0268-3369 .- 1476-5365. ; 48:11, s. 1395-1400
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Tidskriftsartikel (refereegranskat)abstract
- Outcomes and prognostic factors of reduced intensity-conditioned allo-SCT (RIC allo-SCT) for multiple myeloma (MM) relapsing or progressing after prior autologous (auto)-SCT are not well defined. We performed an analysis of 413 MM patients who received a related or unrelated RIC allo-SCT for the treatment of relapse/progression after prior auto-SCT. Median age at RIC allo-SCT was 54.1 years, and 44.6% of patients had undergone two or more prior auto-SCTs. Median OS and PFS from the time of RIC allo-SCT for the entire population were 24.7 and 9.6 months, respectively. Cumulative non-relapse mortality (NRM) at 1 year was 21.5%. In multivariate analysis, CMV seronegativity of both patient and donor was associated with significantly better PFS, OS and NRM. Patient-donor gender mismatch was associated with better PFS, fewer than two prior auto-SCT was associated with better OS, and shorter time from the first auto-SCT to the RIC allo-SCT was associated with lower NRM. The results of this study identify patient and donor CMV seronegativity as the key prognostic factor for outcome after RIC allo-SCT for MM relapsing or progressing after prior auto-SCT.
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| 28. |
- Branchini, P., et al.
(författare)
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Front-end DAQ strategy and implementation for the KLOE-2 experiment
- 2013
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Ingår i: Journal of Instrumentation. - 1748-0221. ; 8, s. T04004-
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Tidskriftsartikel (refereegranskat)abstract
- A new front-end data acquisition (DAQ) system has been conceived for the data collection of the new detectors which will be installed by the KLOE2 collaboration. This system consists of a general purpose FPGA based DAQ module and a VME board hosting up to 16 optical links. The DAQ module has been built around a Virtex-4 FPGA and it is able to acquire up to 1024 different channels distributed over 16 front-end slave cards. Each module is a general interface board (GIB) which performs also first level data concentration tasks. The GIB has an optical interface, a RS-232, an USB and a Gigabit Ethernet Interface. The optical interface will be used for DAQ purposes while the Gigabit Ethernet interface for monitoring tasks and debug. Two new detectors exploit this strategy to collect data. Optical links are used to deliver data to the VME board which performs data concentration tasks. The return optical link from the board to the GIB is used to initialize the front-end cards. The VME interface of the module implements the VME 2eSST protocol in order to sustain a peak data rate of up to 320 MB/s. At the moment the system is working at the Frascati National Laboratory (LNF).
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| 29. |
- Foo, Jia Nee, et al.
(författare)
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Coding Variants at Hexa-allelic Amino Acid 13 of HLA-DRB1 Explain Independent SNP Associations with Follicular Lymphoma Risk
- 2013
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 93:1, s. 167-172
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Tidskriftsartikel (refereegranskat)abstract
- Non-Hodgkin lymphoma represents a diverse group of blood malignancies, of which follicular lymphoma (FL) is a common subtype. Previous genome-wide association studies (GWASs) have identified in the human leukocyte antigen (HLA) class II region multiple independent SNPs that are significantly associated with FL risk. To dissect these signals and determine whether coding variants in HLA genes are responsible for the associations, we conducted imputation, HLA typing, and sequencing in three independent populations for a total of 689 cases and 2,446 controls. We identified a hexa-allelic amino acid polymorphism at position 13 of the HLA-DR beta chain that showed the strongest association with FL within the major histocompatibility complex (MHC) region (multiallelic p = 2.3 x 10(-15)). Out of six possible amino acids that occurred at that position within the population, we classified two as high risk (Tyr and Phe), two as low risk (Ser and Arg), and two as moderate risk (His and Gly). There was a 4.2-fold difference in risk (95% confidence interval = 2.9-6.1) between subjects carrying two alleles encoding high-risk amino acids and those carrying two alleles encoding low-risk amino acids (p = 1.01 x 10(-14)). This coding variant might explain the complex SNP associations identified by GWASs and suggests a common HLA-DR antigen-driven mechanism for the pathogenesis of FL and rheumatoid arthritis.
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| 30. |
- Leandro-Garcia, Luis J., et al.
(författare)
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Regulatory Polymorphisms in beta-Tubulin IIa Are Associated with Paclitaxel-Induced Peripheral Neuropathy
- 2012
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Ingår i: Clinical Cancer Research. - : American Association for Cancer Research. - 1078-0432 .- 1557-3265. ; 18:16, s. 4441-4448
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: Peripheral neuropathy is the dose-limiting toxicity of paclitaxel, a chemotherapeutic drug widely used to treat several solid tumors such as breast, lung, and ovary. The cytotoxic effect of paclitaxel is mediated through beta-tubulin binding in the cellular microtubules. In this study, we investigated the association between paclitaxel neurotoxicity risk and regulatory genetic variants in beta-tubulin genes. Experimental Design: We measured variation in gene expression of three beta-tubulin isotypes (I, IVb, and IIa) in lymphocytes from 100 healthy volunteers, sequenced the promoter region to identify polymorphisms putatively influencing gene expression and assessed the transcription rate of the identified variants using luciferase assays. To determine whether the identified regulatory polymorphisms were associated with paclitaxel neurotoxicity, we genotyped them in 214 patients treated with paclitaxel. In addition, paclitaxel-induced cytotoxicity in lymphoblastoid cell lines was compared with beta-tubulin expression as measured by Affymetrix exon array. Results: We found a 63-fold variation in beta-tubulin IIa gene (TUBB2A) mRNA content and three polymorphisms located at -101, -112, and -157 in TUBB2A promoter correlated with increased mRNA levels. The -101 and -112 variants, in total linkage disequilibrium, conferred TUBB2A increased transcription rate. Furthermore, these variants protected from paclitaxel-induced peripheral neuropathy [HR, 0.62; 95% confidence interval (CI), 0.42-0.93; P = 0.021, multivariable analysis]. In addition, an inverse correlation between TUBB2A and paclitaxel-induced apoptosis (P = 0.001) in lymphoblastoid cell lines further supported that higher TUBB2A gene expression conferred lower paclitaxel sensitivity. Conclusions: This is the first study showing that paclitaxel neuropathy risk is influenced by polymorphisms regulating the expression of a beta-tubulin gene.
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