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Sökning: WFRF:(Kaminska A)

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  • 2017
  • swepub:Mat__t
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  • Munn-Chernoff, M. A., et al. (författare)
  • Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies
  • 2021
  • Ingår i: Addiction Biology. - : Wiley. - 1355-6215 .- 1369-1600. ; 26:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Eating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa and problem alcohol use (genetic correlation [r(g)], twin-based = 0.23-0.53). We estimated the genetic correlation between eating disorder and substance use and disorder phenotypes using data from genome-wide association studies (GWAS). Four eating disorder phenotypes (anorexia nervosa [AN], AN with binge eating, AN without binge eating, and a bulimia nervosa factor score), and eight substance-use-related phenotypes (drinks per week, alcohol use disorder [AUD], smoking initiation, current smoking, cigarettes per day, nicotine dependence, cannabis initiation, and cannabis use disorder) from eight studies were included. Significant genetic correlations were adjusted for variants associated with major depressive disorder and schizophrenia. Total study sample sizes per phenotype ranged from similar to 2400 to similar to 537 000 individuals. We used linkage disequilibrium score regression to calculate single nucleotide polymorphism-based genetic correlations between eating disorder- and substance-use-related phenotypes. Significant positive genetic associations emerged between AUD and AN (r(g) = 0.18; false discovery rate q = 0.0006), cannabis initiation and AN (r(g) = 0.23; q < 0.0001), and cannabis initiation and AN with binge eating (r(g) = 0.27; q = 0.0016). Conversely, significant negative genetic correlations were observed between three nondiagnostic smoking phenotypes (smoking initiation, current smoking, and cigarettes per day) and AN without binge eating (r(gs) = -0.19 to -0.23; qs < 0.04). The genetic correlation between AUD and AN was no longer significant after co-varying for major depressive disorder loci. The patterns of association between eating disorder- and substance-use-related phenotypes highlights the potentially complex and substance-specific relationships among these behaviors.
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  • Bryois, J., et al. (författare)
  • Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease
  • 2020
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 52:5, s. 482-493
  • Tidskriftsartikel (refereegranskat)abstract
    • Genome-wide association studies have discovered hundreds of loci associated with complex brain disorders, but it remains unclear in which cell types these loci are active. Here we integrate genome-wide association study results with single-cell transcriptomic data from the entire mouse nervous system to systematically identify cell types underlying brain complex traits. We show that psychiatric disorders are predominantly associated with projecting excitatory and inhibitory neurons. Neurological diseases were associated with different cell types, which is consistent with other lines of evidence. Notably, Parkinson’s disease was genetically associated not only with cholinergic and monoaminergic neurons (which include dopaminergic neurons) but also with enteric neurons and oligodendrocytes. Using post-mortem brain transcriptomic data, we confirmed alterations in these cells, even at the earliest stages of disease progression. Our study provides an important framework for understanding the cellular basis of complex brain maladies, and reveals an unexpected role of oligodendrocytes in Parkinson’s disease. © 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.
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  • Watson, H. J., et al. (författare)
  • Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
  • 2019
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 51:8
  • Tidskriftsartikel (refereegranskat)abstract
    • Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness(1), affecting 0.9-4% of women and 0.3% of men(2-4), with twin-based heritability estimates of 50-60%(5). Mortality rates are higher than those in other psychiatric disorders(6), and outcomes are unacceptably poor(7). Here we combine data from the Anorexia Nervosa Genetics Initiative (ANGI)(8,9) and the Eating Disorders Working Group of the Psychiatric Genomics Consortium (PGC-ED) and conduct a genome-wide association study of 16,992 cases of anorexia nervosa and 55,525 controls, identifying eight significant loci. The genetic architecture of anorexia nervosa mirrors its clinical presentation, showing significant genetic correlations with psychiatric disorders, physical activity, and metabolic (including glycemic), lipid and anthropometric traits, independent of the effects of common variants associated with body-mass index. These results further encourage a reconceptualization of anorexia nervosa as a metabo-psychiatric disorder. Elucidating the metabolic component is a critical direction for future research, and paying attention to both psychiatric and metabolic components may be key to improving outcomes.
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  • Anastasi, A., et al. (författare)
  • Combination of KLOE sigma (e(+) e(-) -> pi(+)pi(-) gamma(gamma)) measurements and determination of a(mu)(pi+pi-) in the energy range 0.10 < s < 0.95 GeV2
  • 2018
  • Ingår i: Journal of High Energy Physics (JHEP). - : Springer. - 1126-6708 .- 1029-8479. ; :3
  • Tidskriftsartikel (refereegranskat)abstract
    • The three precision measurements of the cross section sigma (e(+)e(-) -> pi(+)pi(-)gamma(gamma)) using initial state radiation by the KLOE collaboration provide an important input for the prediction of the hadronic contribution to the anomalous magnetic moment of the muon. These measurements are correlated for both statistical and systematic uncertainties and, therefore, the simultaneous use of these measurements requires covariance matrices that fully describe the correlations. We present the construction of these covariance matrices and use them to determine a combined KLOE measurement for sigma (e(+)e(-) -> pi(+)pi(-)gamma(gamma)). We find, from this combination, a two-pion contribution to the muon magnetic anomaly in the energy range 0.10 < s < 0.95 GeV2 of a(mu)(pi+pi-) (489.8 +/- 1.7(stat) +/- 4.8(sys)) x 10(-10).
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17.
  • Anastasi, A., et al. (författare)
  • Combined limit on the production of a light gauge boson decaying into mu(+) mu(-) and pi(+) pi(-)
  • 2018
  • Ingår i: Physics Letters B. - : ELSEVIER SCIENCE BV. - 0370-2693 .- 1873-2445. ; 784, s. 336-341
  • Tidskriftsartikel (refereegranskat)abstract
    • We searched for the mu(+) mu(-) decay of a light vector gauge boson, also known as dark photon, in the e(+) e(-) -> mu(+) mu(-) gamma(ISR) process by means of the Initial State Radiation (ISR) method. We used 1.93fb(-1) of data collected by the KLOE experiment at the DA Phi NE phi-factory. No structures have been observed over the irreducible mu(+) mu(-) background. A 90% CL limit on the ratio epsilon(2)= alpha'/alpha between the dark coupling constant and the fine structure constant of 3 x 10(-6)-2 x 10(-7) has been set in the dark photon mass region between 519 MeV and 973 MeV. This new limit has been combined with the published result obtained investigating the hypothesis of the dark photon decaying into hadrons in e(+) e(-) -> pi(+) pi(-) gamma(ISR) events. The combined 90% CL limit increases the sensitivity especially in the rho-omega interference region and excludes epsilon(2) greater than (13 - 2) x 10(-7). For dark photon masses greater than 600 MeV the combined limit is lower than 8 x 10(-7) resulting more stringent than present constraints from other experiments.
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18.
  • Anastasi, A., et al. (författare)
  • Limit on the production of a new vector boson in e+e− → Uγ, U → π+π− with the KLOE experiment
  • 2016
  • Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 757, s. 356-361
  • Tidskriftsartikel (refereegranskat)abstract
    • Abstract The recent interest in a light gauge boson in the framework of an extra U(1) symmetry motivates searches in the mass range below 1 GeV. We present a search for such a particle, the dark photon, in e + e − → U γ , U → π + π − based on 28 million e + e − → π + π − γ events collected at DAΦNE by the KLOE experiment. The π + π − production by initial-state radiation compensates for a loss of sensitivity of previous KLOE U → e + e − , μ + μ − searches due to the small branching ratios in the ρ – ω resonance region. We found no evidence for a signal and set a limit at 90% CL on the mixing strength between the photon and the dark photon, ε 2 , in the U mass range between 527 and 987 MeV . Above 700 MeV this new limit is more stringent than previous ones.
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19.
  • Anastasi, A., et al. (författare)
  • Measurement of the charge asymmetry for the K-S -> pi e nu decay and test of CPT symmetry with the KLOE detector
  • 2018
  • Ingår i: Journal of High Energy Physics (JHEP). - : SPRINGER. - 1126-6708 .- 1029-8479. ; :9
  • Tidskriftsartikel (refereegranskat)abstract
    • Using 1.63 fb(-1) of integrated luminosity collected by the KLOE experiment about 7 x 10(4) K-S -> pi(+/-)e(-/+)nu decays have been reconstructed. The measured value of the charge asymmetry for this decay is A(S) = (-4.9 +/- 5.7(stat) +/- 2.6(syst)) x 10(-3) which is almost twice more precise than the previous KLOE result. The combination of these two measurements gives A(S) = (3.8 +/- 5.0(stat) +/- 2.6(syst)) x 10(-3) and, together with the asymmetry of the K-L semileptonic decay, provides significant tests of the CPT symmetry. The obtained results are in agreement with CPT invariance.
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20.
  • Anastasi, A., et al. (författare)
  • Measurement of the running of the fine structure constant below 1 GeV with the KLOE detector
  • 2017
  • Ingår i: Physics Letters B. - : ELSEVIER SCIENCE BV. - 0370-2693 .- 1873-2445. ; 767, s. 485-492
  • Tidskriftsartikel (refereegranskat)abstract
    • We have measured the running of the effective QED coupling constant alpha(s) in the time-like region 0.6 < root s < 0.975 GeV with the KLOE detector at DA Phi NE using the Initial-State Radiation process e(+) e(-) -> mu(+) mu(-)gamma. It represents the first measurement of the running of alpha(s) in this energy region. Our results show a more than 5 sigma significance of the hadronic contribution to the running of alpha(s), which is the strongest direct evidence both in time- and space-like regions achieved in a single measurement. By using the e(+) e(-) -> pi(+) pi(-) cross section measured by KLOE, the real and imaginary parts of the shift Delta alpha(s) have been extracted. From a fit of the real part of Delta alpha(s) and assuming the lepton universality the branching ratio BR(omega -> mu(+) mu(-)) = (6.6 +/- 1.4(stat) +/- 1.7(syst)) (.) 10 (5)has been determined.
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21.
  • Anastasi, A., et al. (författare)
  • Limit on the production of a low-mass vector boson in e(+)e(-) -> U gamma, U -> e(+)e(-) with the KLOE experiment
  • 2015
  • Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 750, s. 633-637
  • Tidskriftsartikel (refereegranskat)abstract
    • The existence of a new force beyond the Standard Model is compelling because it could explain several striking astrophysical observations which fail standard interpretations. We searched for the light vector mediator of this dark force, the U boson, with the KLOE detector at the DA Phi NE e(+)e(-) collider. Using an integrated luminosity of 1.54 fb(-1), we studied the process e(+)e(-) -> U gamma, with U -> e(+)e(-), using radiative return to search for a resonant peak in the dielectron invariant-mass distribution. We did not find evidence for a signal, and set a 90% CL upper limit on the mixing strength between the Standard Model photon and the dark photon, epsilon(2), at 10(-6)-10(-4) in the 5-520 MeV/c(2) mass range.
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22.
  • Anastasi, A., et al. (författare)
  • Search for dark Higgsstrahlung in e(+0)e(-) -> mu(+)mu(-) and missing energy events with the KLOE experiment
  • 2015
  • Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 747, s. 365-372
  • Tidskriftsartikel (refereegranskat)abstract
    • We searched for evidence of a Higgsstrahlung process in a secluded sector, leading to a final state with a dark photon U and a dark Higgs boson h', with the KLOE detector at DA Phi NE. We investigated the case of h' lighter than U, with U decaying into a muon pair and h' producing a missing energy signature. We found no evidence of the process and set upper limits to its parameters in the range 2m(mu) < m(U) < 1000 MeV, m(h') < m(U). (C) 2015 The Authors. Published by Elsevier B.V.
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23.
  • Babusci, D., et al. (författare)
  • Measurement of the branching fraction for the decay K-S -> pi mu nu with the KLOE detector
  • 2020
  • Ingår i: Physics Letters B. - : ELSEVIER. - 0370-2693 .- 1873-2445. ; 804
  • Tidskriftsartikel (refereegranskat)abstract
    • Based on a sample of 300 million K-S mesons produced in phi -> KLKS decays recorded by the KLOE experiment at the DA Phi NE e(+)e(-) collider we have measured the branching fraction for the decay K-S -> pi mu nu. The K-S mesons are identified by the interaction of K-L mesons in the detector. The K-S -> pi mu nu decays are selected by a boosted decision tree built with kinematic variables and by a time-of-flight measurement. Signal efficiencies are evaluated with data control samples of K-L -> pi mu nu decays. A fit to the reconstructed muon mass distribution finds 7223 +/- 180 signal events. Normalising to the K-S -> pi(+)pi(-) decay events the result for the branching fraction is B(K-S -> pi mu nu) = (4.56 +/- 0.11(stat) +/- 0.17(syst)) x 10(-4). It is the first measurement of this decay mode and the result allows an independent determination of vertical bar V-us vertical bar and a test of the lepton-flavour universality. (c) 2020 The Author. Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
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24.
  • Babusci, D., et al. (författare)
  • Precision tests of quantum mechanics and CPT symmetry with entangled neutral kaons at KLOE
  • 2022
  • Ingår i: Journal of High Energy Physics (JHEP). - : Springer Nature. - 1126-6708 .- 1029-8479.
  • Tidskriftsartikel (refereegranskat)abstract
    • The quantum interference between the decays of entangled neutral kaons is studied in the process phi -> KSKL -> pi(+)pi(-)pi(+)pi(-), which exhibits the characteristic Einstein-Podolsky-Rosen correlations that prevent both kaons to decay into pi(+)pi(-) at the same time. This constitutes a very powerful tool for testing at the utmost precision the quantum coherence of the entangled kaon pair state, and to search for tiny decoherence and CPT violation effects, which may be justified in a quantum gravity framework. The analysed data sample was collected with the KLOE detector at DA Phi NE, the Frascati phi-factory, and corresponds to an integrated luminosity of about 1.7 fb(-1), i.e. to about 1.7 x 10(9) phi -> KSKL decays produced. From the fit of the observed Delta t distribution, being Delta t the difference of the kaon decay times, the decoherence and CPT violation parameters of various phenomenological models are measured with a largely improved accuracy with respect to previous analyses. The results are consistent with no deviation from quantum mechanics and CPT symmetry, while for some parameters the precision reaches the interesting level at which - in the most optimistic scenarios - quantum gravity effects might show up. They provide the most stringent limits up to date on the considered models.
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25.
  • Babusci, D., et al. (författare)
  • Upper limit on the eta -> pi(+)pi(-) branching fraction with the KLOE experiment
  • 2020
  • Ingår i: Journal of High Energy Physics (JHEP). - : SPRINGER. - 1126-6708 .- 1029-8479. ; :10
  • Tidskriftsartikel (refereegranskat)abstract
    • Based on an integrated luminosity of 1.61 fb(-1)e(+)e(-) collision data collected with the KLOE detector at DA Phi NE, the Frascati phi -factory, a search for the P- and CP-violating decay eta -> pi (+)pi (-) has been performed. Radiative phi -> eta gamma decay is exploited to access the eta mesons. No signal is observed in the pi (+)pi (-) invariant mass spectrum, and the upper limit on the branching fraction at 90% confidence level is determined to be B(eta -> pi (+)pi (-)) < 4.9 x 10(-6), which is approximately three times smaller than the previous KLOE result. From the combination of these two measurements we get B( -> pi (+)pi (-)) < 4.4 x 10(-6) at 90% confidence level.
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26.
  • Anastasi, A., et al. (författare)
  • Precision measurement of the η → π + π − π 0 Dalitz plot distribution with the KLOE detector
  • 2016
  • Ingår i: Journal of High Energy Physics (JHEP). - 1126-6708 .- 1029-8479. ; :5
  • Tidskriftsartikel (refereegranskat)abstract
    • Using 1.6 fb−1 of e + e − → ϕ → ηγ data collected with the KLOE detector at DAΦNE, the Dalitz plot distribution for the η → π + π − π 0 decay is studied with the world’s largest sample of ∼ 4.7 · 106 events. The Dalitz plot density is parametrized as a polynomial expansion up to cubic terms in the normalized dimensionless variables X and Y . The experiment is sensitive to all charge conjugation conserving terms of the expansion, including a gX 2 Y term. The statistical uncertainty of all parameters is improved by a factor two with respect to earlier measurements.
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27.
  • Sgouros, D., et al. (författare)
  • Dermatoscopic features of thin (<= 2 mm Breslow thickness) vs. thick (>2 mm Breslow thickness) nodular melanoma and predictors of nodular melanoma versus nodular non-melanoma tumours: a multicentric collaborative study by the International Dermoscopy Society
  • 2020
  • Ingår i: Journal of the European Academy of Dermatology and Venereology. - : Wiley. - 0926-9959 .- 1468-3083. ; 34:11, s. 2541-2547
  • Tidskriftsartikel (refereegranskat)abstract
    • Background Thin nodular melanoma (NM) often lacks conspicuous melanoma-specific dermatoscopic criteria and escapes clinical detection until it progresses to a thicker and more advanced tumour. Objective To investigate the dermatoscopic morphology of thin (<= 2 mm Breslow thickness) vs. thick (>2 mm) NM and to identify dermatoscopic predictors of its differential diagnosis from other nodular tumours. Methods Retrospective, morphological case-control study, conducted on behalf of the International Dermoscopy Society. Dermatoscopic images of NM and other nodular tumours from 19 skin cancer centres worldwide were collected and analysed. Results Overall, 254 tumours were collected (69 NM of Breslow thickness <= 2 mm, 96 NM >2 mm and 89 non-melanoma nodular lesions). Light brown coloration (50.7%) and irregular brown dots/globules (42.0%) were most frequently observed in <= 2 mm NMs. Multivariate analysis revealed that dotted vessels (3.4-fold), white shiny streaks (2.9-fold) and irregular blue structureless area (2.4-fold) were predictors for thinner NM compared to non-melanoma nodular tumours. Overall, irregular blue structureless area (3.4-fold), dotted vessels (4.6-fold) and serpentine vessels (1.9-fold) were predictors of all NM compared to non-melanoma nodular lesions. Limitations Absence of a centralized, consensus pathology review and cases selected form tertiary centres maybe not reflecting the broader community. Conclusions Our study sheds light into the dermatoscopic morphology of thin NM in comparison to thicker NM and could provide useful clues for its differential diagnosis from other non-melanoma nodular tumours.
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28.
  • Babusci, D., et al. (författare)
  • Search for light vector boson production in e(+)e(-) -> mu(+)mu(-)gamma interactions with the KLOE experiment
  • 2014
  • Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 736, s. 459-464
  • 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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29.
  • Babusci, D., et al. (författare)
  • Study of the Dalitz decay phi -> eta e(+)e(-) with the KLOE detector
  • 2015
  • Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 742, s. 1-6
  • Tidskriftsartikel (refereegranskat)abstract
    • We have studied the vector to pseudoscalar conversion decay phi -> eta e(+)e(-), with.. eta -> pi(0)pi(0)pi(0), with the KLOE detector at DA phi NE. The data set of 1.7 fb(-1) of e(+)e(-) collisions at root s similar to M-phi contains a clear conversion decay signal of similar to 31,000 events from which we measured a value of BR(phi -> eta e(+)e-) = (1.075 +/- 0.007 +/- 0.038) x 10(-4). The same sample is used to determine the transition form factor by a fit to the e(+)e(-) invariant mass spectrum, obtaining b(phi eta)=( 1.28 +/- 0.10(-0.08)(+0.09)) GeV-2, that improves by a factor of five the precision of the previous measurement and is in good agreement with VMD expectations.
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30.
  • Babusci, D., et al. (författare)
  • Test of CPT and Lorentz symmetry in entangled neutral kaons with the KLOE experiment
  • 2014
  • Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 730, s. 89-94
  • 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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31.
  • Babuscih, D., et al. (författare)
  • Measurement of the absolute branching ratio of the K+ -> pi(+) pi(-) pi(+) (gamma) decay with the KLOE detector
  • 2014
  • Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 738, s. 128-133
  • 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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32.
  • Fattibene, P, et al. (författare)
  • The 4th international comparison on EPR dosimetry with tooth enamel Part 1: Report on the results
  • 2011
  • Ingår i: Radiation Measurements. - : Elsevier. - 1350-4487 .- 1879-0925. ; 46:9, s. 765-771
  • Tidskriftsartikel (refereegranskat)abstract
    • This paper presents the results of the 4th International Comparison of in vitro electron paramagnetic resonance dosimetry with tooth enamel, where the performance parameters of tooth enamel dosimetry methods were compared among sixteen laboratories from all over the world. The participating laboratories were asked to determine a calibration curve with a set of tooth enamel powder samples provided by the organizers. Nine molar teeth extracted following medical indication from German donors and collected between 1997 and 2007 were prepared and irradiated at the Helmholtz Zentrum Munchen. Five out of six samples were irradiated at 0.1, 0.2, 0.5, 1.0 and 1.5 Gy air kerma; and one unirradiated sample was kept as control. The doses delivered to the individual samples were unknown to the participants, who were asked to measure each sample nine times, and to report the EPR signal response, the mass of aliquots measured, and the parameters of EPR signal acquisition and signal evaluation. Critical dose and detection limit were calculated by the organizers on the basis of the calibration-curve parameters obtained at every laboratory. For calibration curves obtained by measuring every calibration sample three times, the mean value of the detection limit was 205 mGy, ranging from 56 to 649 mGy. The participants were also invited to provide the signal response and the nominal dose of their current dose calibration curve (wherever available), the critical dose and detection limit of which were also calculated by the organizers.
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33.
  • Ehlerding, A., et al. (författare)
  • The dissociative recombination of fluorocarbon ions III : CF2+ and CF3
  • 2006
  • Ingår i: Journal of Physics B. - : IOP Publishing. - 0953-4075 .- 1361-6455. ; 39:4, s. 805-812
  • Tidskriftsartikel (refereegranskat)abstract
    • Cross sections and branching ratios are presented for the dissociative recombination of the CF2+ and C-3(+) ions with electrons. It is found that the channel producing CF + F is dominant for the reaction with CF2+ and the production of CF2 + F is dominant for the reaction with CF3+. The cross sections for these two ions are very similar.
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38.
  • Novotny, O, et al. (författare)
  • The dissociative recombination of fluorocarbon ions : II. CF
  • 2005
  • Ingår i: Journal of Physics B. - : IOP Publishing. - 0953-4075 .- 1361-6455. ; 38:10, s. 1471-1482
  • Tidskriftsartikel (refereegranskat)abstract
    • The dissociative recombination and excitation of CF+ have been measured at the ASTRID and CRYRING storage rings. Though examination of the available potential energy curves would suggest that the recombination rate would be large for this ion, in fact a rate constant of 5.2 +/- 1.0 x 10(-8) (T-e/300)(-0.8) cm(3) s(-1) was found. The recombination cross section at low energies falls off to a minimum at 0.5 eV centre-of-mass collision energy but exhibits resonances at energies above this. The dissociative excitation cross section leading to C+ + F was also measured and this displays an onset beginning at about 7 eV.
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39.
  • Al-Khalili, A, et al. (författare)
  • Dissociative recombination cross section and branching ratios of protonated dimethyl disulfide and N-methylacetamide
  • 2004
  • Ingår i: Journal of Chemical Physics. - : AIP Publishing. - 0021-9606 .- 1089-7690. ; 121:12, s. 5700-5708
  • Tidskriftsartikel (refereegranskat)abstract
    • Dimethyl disulfide (DMDS) and N-methylacetamide are two first choice model systems that represent the disulfide bridge bonding and the peptide bonding in proteins. These molecules are therefore suitable for investigation of the mechanisms involved when proteins fragment under electron capture dissociation (ECD). The dissociative recombination cross sections for both protonated DMDS and protonated N-methylacetamide were determined at electron energies ranging from 0.001 to 0.3 eV. Also, the branching ratios at 0 eV center-of-mass collision energy were determined. The present results give support for the indirect mechanism of ECD, where free hydrogen atoms produced in the initial fragmentation step induce further decomposition. We suggest that both indirect and direct dissociations play a role in ECD.
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40.
  • Watson, Hunna J., et al. (författare)
  • Common Genetic Variation and Age of Onset of Anorexia Nervosa
  • 2022
  • Ingår i: BIOLOGICAL PSYCHIATRY: GLOBAL OPEN SCIENCE. - : Elsevier BV. - 2667-1743. ; 2:4, s. 368-378
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Genetics and biology may influence the age of onset of anorexia nervosa (AN). The aims of this study were to determine whether common genetic variation contributes to age of onset of AN and to investigate the genetic associations between age of onset of AN and age at menarche.METHODS: A secondary analysis of the Psychiatric Genomics Consortium genome-wide association study (GWAS) of AN was performed, which included 9335 cases and 31,981 screened controls, all from European ancestries. We conducted GWASs of age of onset, early-onset AN (,13 years), and typical-onset AN, and genetic correlation, genetic risk score, and Mendelian randomization analyses.RESULTS: Two loci were genome-wide significant in the typical-onset AN GWAS. Heritability estimates (single nucleotide polymorphism-h2) were 0.01-0.04 for age of onset, 0.16-0.25 for early-onset AN, and 0.17-0.25 for typical-onset AN. Early-and typical-onset AN showed distinct genetic correlation patterns with putative risk factors for AN. Specifically, early-onset AN was significantly genetically correlated with younger age at menarche, and typical-onset AN was significantly negatively genetically correlated with anthropometric traits. Genetic risk scores for age of onset and early-onset AN estimated from independent GWASs significantly predicted age of onset. Mendelian randomization analysis suggested a causal link between younger age at menarche and early -onset AN.CONCLUSIONS: Our results provide evidence consistent with a common variant genetic basis for age of onset and implicate biological pathways regulating menarche and reproduction.
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41.
  • Geppert, W D, et al. (författare)
  • Dissociative recombination of nitrile ions : DCCCN+ and DCCCND
  • 2004
  • Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 613:2, s. 1302-1309
  • Tidskriftsartikel (refereegranskat)abstract
    • Branching ratios and absolute cross sections have been measured for the dissociative recombination of DCCCN+ and DCCCND+ using the CRYRING ion storage ring. In the case of DCCCN+ the dissociation yielding D + C3N and those leading to two fragments containing a pair of heavy atoms dominate, whereas pathways producing a fragment with three heavy atoms play only a minor role. Conversely, for DCCCND+, only those channels preserving the carbon chain or producing two fragments with a pair of heavy atoms each are detected. The cross sections of the reactions are very similar and can be fitted to the expressions sigma = (2.9 +/- 0.5) x 10(-15)E(eV)(-1.05 +/- 0.02) cm(2) and sigma = (2.3 +/- 0.4) x 10(-15)E(eV)(-1.10 +/- 0.02) cm(2) for DCCCN+ and DCCCND+, respectively. From these data, thermal reaction rates of k(T) = (1.5 +/- 0.3) x 10(-6)(T/300 K)(-0.60 +/- 0.02) cm(3) s(-1) and k(T) = (1.5 +/- 0.3) x 10(-6)(T/300 K)(-0.58 +/- 0.02) cm(3) s(-1) were calculated for DCCCN+ and DCCCND+, respectively. These rates and branching ratios are compared with those hitherto used in astrophysical models.
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42.
  • Meijnikman, A. S., et al. (författare)
  • Hyperinsulinemia Is Highly Associated With Markers of Hepatocytic Senescence in Two Independent Cohorts
  • 2022
  • Ingår i: Diabetes. - : American Diabetes Association. - 0012-1797 .- 1939-327X. ; 71:9, s. 1929-1936
  • Tidskriftsartikel (refereegranskat)abstract
    • Cellular senescence is an essentially irreversible growth arrest that occurs in response to various cellular stressors and may contribute to development of type 2 diabetes mellitus and nonalcoholic fatty liver disease (NAFLD). In this article, we investigated whether chronically elevated insulin levels are associated with cellular senescence in the human liver. In 107 individuals undergoing bariatric surgery, hepatic senescence markers were assessed by immunohistochemistry as well as transcriptomics. A subset of 180 participants from the ongoing Finnish Kuopio OBesity Surgery (KOBS) study was used as validation cohort. We found plasma insulin to be highly associated with various markers of cellular senescence in liver tissue. The liver transcriptome of individuals with high insulin revealed significant upregulation of several genes associated with senescence: p21, TGFβ, PI3K, HLA-G, IL8, p38, Ras, and E2F. Insulin associated with hepatic senescence independently of NAFLD and plasma glucose. By using transcriptomic data from the KOBS study, we could validate the association of insulin with p21 in the liver. Our results support a potential role for hyperinsulinemia in induction of cellular senescence in the liver. These findings suggest possible benefits of lowering insulin levels in obese individuals with insulin resistance.
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43.
  • Meyer, Esther, et al. (författare)
  • Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
  • 2017
  • Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 49, s. 223-237
  • Tidskriftsartikel (refereegranskat)abstract
    • Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essential for normal development, little is known about the specific functions of the different MLL lysine methyltransferases. Here we report heterozygous variants in the gene KMT2B (also known as MLL4) in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance and characteristic brain magnetic resonance imaging findings. Over time, the majority of affected individuals developed prominent cervical, cranial and laryngeal dystonia. Marked clinical benefit, including the restoration of independent ambulation in some cases, was observed following deep brain stimulation (DBS). These findings highlight a clinically recognizable and potentially treatable form of genetic dystonia, demonstrating the crucial role of KMT2B in the physiological control of voluntary movement.
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44.
  • Dongiovanni, P., et al. (författare)
  • Transmembrane 6 Superfamily Member 2 Gene Variant Disentangles Nonalcoholic Steatohepatitis From Cardiovascular Disease
  • 2015
  • Ingår i: Hepatology. - : Ovid Technologies (Wolters Kluwer Health). - 0270-9139 .- 1527-3350. ; 61:2, s. 506-514
  • Tidskriftsartikel (refereegranskat)abstract
    • Excess hepatic storage of triglycerides is considered a benign condition, but nonalcoholic steatohepatitis (NASH) may progress to fibrosis and promote atherosclerosis. Carriers of the TM6SF2 E167K variant have fatty liver as a result of reduced secretion of very-low-density lipoproteins (VLDLs). As a result, they have lower circulating lipids and reduced risk of myocardial infarction. In this study, we aimed to assess whether TM6SF2 E167K affects liver damage and cardiovascular outcomes in subjects at risk of NASH. Liver damage was evaluated in 1,201 patients who underwent liver biopsy for suspected NASH; 427 were evaluated for carotid atherosclerosis. Cardiovascular outcomes were assessed in 1,819 controls from the Swedish Obese Subjects (SOS) cohort. Presence of the inherited TM6SF2 E167K variant was determined by TaqMan assays. In the liver biopsy cohort, 188 subjects (13%) were carriers of the E167K variant. They had lower serum lipid levels than noncarriers (P<0.05), had more-severe steatosis, necroinflammation, ballooning, and fibrosis (P<0.05), and were more likely to have NASH (odds ratio [OR]: 1.84; 95% confidence interval [CI]: 1.23-2.79) and advanced fibrosis (OR, 2.08; 95% CI: 1.20-3.55), after adjustment for age, sex, body mass index, fasting hyperglycemia, and the I148M PNPLA3 risk variant. However, E167K carriers had lower risk of developing carotid plaques (OR, 0.49; 95% CI: 0.25-0.94). In the SOS cohort, E167K carriers had higher alanine aminotransferase ALT and lower lipid levels (P<0.05), as well as a lower incidence of cardiovascular events (hazard ratio: 0.61; 95% CI: 0.39-0.95). Conclusions: Carriers of the TM6SF2 E167K variant are more susceptible to progressive NASH, but are protected against cardiovascular disease. Our findings suggest that reduced ability to export VLDLs is deleterious for the liver. (Hepatology 2015;61:506-514)
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45.
  • Geppert, W D, et al. (författare)
  • Dissociative recombination of (SO2+)-O-18 : Evidence for three-body breakup
  • 2004
  • Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 610:2, s. 1228-1233
  • Tidskriftsartikel (refereegranskat)abstract
    • Branching ratios and absolute cross sections have been measured for the dissociative recombination of (SO2+)-O-18 using the CRYRING ion storage ring. The branching ratio of the (SO2+)-O-18 + e(-)-->(SO)-O-18+O-18 channel amounts to 61%, while the three-body breakup (SO2+)-O-18 + e(-)-->S+2(18)O accounts for the remaining 39% of the total reaction. The cross section of the reaction could be fitted by the expression sigma=(1.2+/-0.4)x10(-15) E-0.96+/-0.02 cm(2), which leads to a thermal reaction rate of k(T)=(4.6+/-0.2)x10(-7)(T/300 K)(-0.52+/-0.02) cm(3) mol(-1) s(-1).
  •  
46.
  • Markiewicz-Kijewska, M, et al. (författare)
  • ABO Incompatible Liver Transplantation in Children: A 20 Year Experience from Centres in the TransplantChild European Reference Network
  • 2021
  • Ingår i: Children (Basel, Switzerland). - : MDPI AG. - 2227-9067. ; 8:9
  • Tidskriftsartikel (refereegranskat)abstract
    • An increasing number of AB0-incompatible (AB0i) liver transplantations (LT) are being undertaken internationally in recent years due to organ shortages and the need for urgent transplantation. The aim of our study was establish the value of ABOi LT from available retrospective results of AB0i pediatric liver transplantations performed in European reference centers now belonging to the TransplantChild, European Reference Network (ERN). Data from medical records were analyzed, including demographic data, diagnosis, urgency of transplantation, time on the waiting list, PELD/MELD score, desensitization procedures, immunosuppression, selected post-transplant complications, and patient and graft survival. A total of 142 patients (pts) with transplants between 1986 and 2018 in 8 European transplant centers were included in the study. The indications for liver transplantation were: cholestatic diseases in 62 pts, acute liver failure in 42 pts, and other conditions in the remaining 38 pts. Sixty-six patients received grafts from living donors, and seventy-six received grafts from deceased donors. Both patient and graft survival were significantly affected by deceased donor type, urgent transplantation, and the development of vascular complications. In the multivariate analysis, vascular complications had a negative impact on patient and graft survival, while a longer time from the first AB0i LT in the study showed better results, suggesting an international learning experience. In conclusion, we believe that AB0i LT in children is now a safe procedure that may be adopted more readily in children.
  •  
47.
  • Viggiano, A. A., et al. (författare)
  • Rate constants and branching ratios for the dissociative recombination of CO2
  • 2005
  • Ingår i: Journal of Chemical Physics. - : AIP Publishing. - 0021-9606 .- 1089-7690. ; 122:22, s. 226101-
  • Tidskriftsartikel (refereegranskat)abstract
    • The calculation of rate constants and branching ratios was carried out to study the dissociative recombination of CO2+. The recombination of CO2+ is significant in the atmospheres of Venus and Mars. Rate constants and cross sections were studied by ramping the electron beam around a center-of-mass energy of 0 eV. The results of the study confirms that all the recombination of CO2+ results in a simple bondbreaking to form CO plus O. The rate constants show good agreement with measurements at 300 K and the electron energy dependence is identical to storage ring results.
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48.
  •  
49.
  • Alim, MA, et al. (författare)
  • Pleckstrin Levels Are Increased in Patients with Chronic Periodontitis and Regulated via the MAP Kinase-p38α Signaling Pathway in Gingival Fibroblasts
  • 2022
  • Ingår i: Frontiers in immunology. - : Frontiers Media SA. - 1664-3224. ; 12, s. 801096-
  • Tidskriftsartikel (refereegranskat)abstract
    • Chronic periodontitis (CP) is a bacteria-driven inflammatory disease characterized by the breakdown of gingival tissue, the periodontal ligament, and alveolar bone, leading ultimately to tooth loss. We previously reported the pleckstrin gene (PLEK) to be highly upregulated in gingival tissue of patients with CP and the only gene concurrently upregulated in other inflammatory diseases including rheumatoid arthritis and cardiovascular diseases. Using saliva from 169 individuals diagnosed with CP and healthy controls, we investigated whether pleckstrin could serve as a novel biomarker of periodontitis. Additionally, we explored signal pathways involved in the regulation of PLEK using human gingival fibroblasts (HGFs). Pleckstrin levels were significantly higher (p &lt; 0.001) in the saliva samples of patients with CP compared to controls and closely associated with CP severity. Immunohistochemical analysis revealed the expression of pleckstrin in inflammatory cells and gingival fibroblasts of CP patients. To explore the signal pathways involved in pleckstrin regulation, we stimulated HGFs with either interleukin-1β (IL-1β) or lipopolysaccharides (LPS) alone, or in combination with inhibitors targeting c-Jun N-terminal kinase, tyrosine kinase, protein kinase C, or p38 MAP kinase. Results showed that IL-1β and LPS significantly increased PLEK mRNA and pleckstrin protein levels. VX-745, the p38 MAP kinase inhibitor significantly decreased IL-1β- and LPS-induced pleckstrin levels at both the mRNA and the protein level. Together, these findings show that pleckstrin could serve as a salivary biomarker for the chronic inflammatory disease periodontitis and a regulator of inflammation via the p38 MAP kinase pathway.
  •  
50.
  • Chartkunchand, K. C., et al. (författare)
  • Lifetimes of bound excited states of Pt-
  • 2017
  • Ingår i: Journal of Physics: Conference Series, Vol. 875, no. 022051. - : IOP Publishing. - 1742-6588.
  • Konferensbidrag (refereegranskat)abstract
    • Measurements of the radiative lifetimes of the two excited states of the platinum anion Pt- are presented. Pt- ions stored in the cryogenic ion storage ring DESIREE were photodetached at different photon wavelengths and the resulting yield of neutral Pt measured as a function of time was recorded. Analysis of the neutral decay curves show a 2.54 +/- 0.10 s lifetime for the higher-lying 5d(10)6(s) S-2(1/2) excited state and a lifetime in the range of 50-200 ms for the lower- lying 5d(9)6(s)(2) D-2(3/2) excited state. This is the first study to report the lifetime of a bound anion excited state with an electron configuration different from that of the anion ground state.
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