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Sökning: WFRF:(Kaminska D) > (2020-2022) > (2020)

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1.
  • 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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2.
  • 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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3.
  • 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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4.
  • 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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