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| 2. |
- Campbell, PJ, et al.
(författare)
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Pan-cancer analysis of whole genomes
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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Tidskriftsartikel (refereegranskat)abstract
- Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10–18.
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| 3. |
- Pham, M. K., et al.
(författare)
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Certified reference material for radionuclides in fish flesh sample IAEA-414 (mixed fish from the Irish Sea and North Sea)
- 2006
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Ingår i: Proceedings of the 15th International Conference on Radionuclide Metrology and its Applications (Applied Radiation and Isotopes). - Amsterdam : Elsevier BV. - 1872-9800 .- 0969-8043. ; 64:10-11, s. 1253-1259
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Konferensbidrag (refereegranskat)abstract
- A certified reference material (CRM) for radionuclides in fish sample IAEA-414 (mixed fish from the Irish Sea and North Seas) is described and the results of the certification process are presented. Nine radionuclides (K-40, Cs-137, Th-232, U-234, U-235, U-238, Pu-238, Pu239+240 and Am-241) were certified for this material. Information on massic activities with 95% confidence intervals is given for six other radionuclides (Sr-90, Pb-210(Po-210), Ra-226, Pu-239, Pu-240 Pu-241). Less frequently reported radionuclides (Tc-99, I-129, Th-228, Th-230 and Np-217) and information on some activity and mass ratios are also included. The CRM can be used for quality assurance/quality control of the analysis of radionuclides in fish sample, for the development and validation of analytical methods and for training purposes. The material is available from IAEA, Vienna, in 100 g units.
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| 4. |
- Berger, Ashton C, et al.
(författare)
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A Comprehensive Pan-Cancer Molecular Study of Gynecologic and Breast Cancers.
- 2018
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Ingår i: Cancer Cell. - : Elsevier BV. - 1535-6108 .- 1878-3686. ; 33:4, s. 690-705.e9
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Tidskriftsartikel (refereegranskat)abstract
- We analyzed molecular data on 2,579 tumors from The Cancer Genome Atlas (TCGA) of four gynecological types plus breast. Our aims were to identify shared and unique molecular features, clinically significant subtypes, and potential therapeutic targets. We found 61 somatic copy-number alterations (SCNAs) and 46 significantly mutated genes (SMGs). Eleven SCNAs and 11 SMGs had not been identified in previous TCGA studies of the individual tumor types. We found functionally significant estrogen receptor-regulated long non-coding RNAs (lncRNAs) and gene/lncRNA interaction networks. Pathway analysis identified subtypes with high leukocyte infiltration, raising potential implications for immunotherapy. Using 16 key molecular features, we identified five prognostic subtypes and developed a decision tree that classified patients into the subtypes based on just six features that are assessable in clinical laboratories.
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| 5. |
- Caretta, Martina Angela, et al.
(författare)
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Water
- 2022
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Ingår i: Climate Change 2022: Impacts, Adaptation and Vulnerability : Contribution of Working Group II to the Sixth Assessment Report of the Intergovernmental Panel on Climate Change - Contribution of Working Group II to the Sixth Assessment Report of the Intergovernmental Panel on Climate Change.
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 6. |
- Chaudhuri, K. Ray, et al.
(författare)
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Effects of Levodopa-Carbidopa Intestinal Gel on Dyskinesia and Non-Motor Symptoms Including Sleep : Results from a Meta-Analysis with 24-Month Follow-Up
- 2022
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Ingår i: Journal of Parkinson's Disease. - 1877-7171. ; 12:7, s. 2071-2083
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Forskningsöversikt (refereegranskat)abstract
- Background: In advanced Parkinson's disease (PD), dyskinesias and non-motor symptoms such as sleep dysfunction can significantly impair quality of life, and high-quality management is an unmet need. Objective: To analyze changes in dyskinesia and non-motor symptoms (including sleep) among studies with levodopa-carbidopa intestinal gel (LCIG) in patients with advanced PD. Methods: A comprehensive literature review identified relevant studies examining LCIG efficacy. Outcomes of interest were dyskinesia (UDysRS, UPDRS IV item 32), overall non-motor symptoms (NMSS), mentation/behavior/mood (UPDRS I), and sleep/daytime sleepiness (PDSS-2, ESS). The pooled mean (95% confidence interval) change from baseline per outcome was estimated for each 3-month interval with sufficient data (i.e., reported by≥3 studies) up to 24 months using a random-effects model. Results: Seventeen open-label studies evaluating 1243 patients with advanced PD were included. All outcomes of interest with sufficient data for meta-analysis showed statistically significant improvement within 6 months of starting LCIG. There were statistically significant improvements in dyskinesia duration as measured by UPDRS IV item 32 at 6 months (-1.10 [-1.69, -0.51] h/day) and 12 months (-1.35 [-2.07, -0.62] h/day). There were statistically and clinically significant improvements in non-motor symptoms as measured by NMSS scores at 3 months (-28.71 [-40.26, -17.15] points). Significant reduction of NMSS burden was maintained through 24 months (-17.61 [-21.52, -13.70] points). UPDRS I scores significantly improved at 3 months (-0.39 [-0.55, -0.22] points). Clinically significant improvements in PDSS-2 and ESS scores were observed at 6 and 12 months in individual studies. Conclusion: Patients with advanced PD receiving LCIG showed significant sustained improvements in the burden of dyskinesia and non-motor symptoms up to 24 months after initiation.
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| 7. |
- Elamain, Omaima Abubakr, et al.
(författare)
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Alignment and alignment transition of bent core nematics
- 2013
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Ingår i: Applied Physics Letters. - : AIP Publishing. - 0003-6951 .- 1077-3118. ; 103:2
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Tidskriftsartikel (refereegranskat)abstract
- We report on the alignment of nematics consisting of bimesogen bent core molecules of chlorine substituent of benzene derivative and their binary mixture with rod like nematics. It was found that the alignment layer made from polyimide material, which is usually used for promoting vertical (homeotropic) alignment of rod like nematics, promotes instead a planar alignment of the bent core nematic and its nematic mixtures. At higher concentration of the rod like nematic component in these mixtures, a temperature driven transition from vertical to planar alignment was found near the transition to isotropic phase. (C) 2013 AIP Publishing LLC.
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| 8. |
- Elamain, Omaima Abubakr, et al.
(författare)
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Optically isotropic state in bent core nematic mixtures with rod like molecules induced by direct current electric field
- 2013
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Ingår i: Applied Physics Letters. - : AIP Publishing. - 0003-6951 .- 1077-3118. ; 103:16
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Tidskriftsartikel (refereegranskat)abstract
- One of the most important characteristic of the liquid crystal displays is the contrast of the generated images. The dark state of the display is a prerequisite for a high image contrast. Optically isotropic state was observed in bent core nematic mixtures containing rod like molecules induced by low applied dc electric field. It is found that the switching properties of these nematic mixtures depend on the concentration of the rod like molecules. Comparatively high concentrations of rod like molecules in the mixtures resulted in an improvement of the contrast and switching properties of the bent core nematic mixtures, thus demonstrating their potential for display applications.
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| 9. |
- Elamain, Omaima Abubakr, et al.
(författare)
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Periodic pattern formation in an achiral bent core nematic
- 2018
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Ingår i: Aip Advances. - : AIP Publishing. - 2158-3226. ; 8:9
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Tidskriftsartikel (refereegranskat)abstract
- We investigated a periodic flexoelectric domain pattern, which appeared as regular parallel stripes in an achiral bent core nematic liquid crystal when dc electric field was applied. We found that such a pattern was first formed at the substrate surface and took place in sandwich cells with a gap larger than 2 mu m. The field-induced periodic pattern was preserved in the field-off state by a polymer network formed in the cell and was found to exhibit a polar as well as a linear electro-optic response due to in-plane switching of the sample optic axis. A comparison between this response and the one obtained in short cholesteric liquid crystals, aligned in ULH (uniform lying helix) texture, and short pitch ferroelectric liquid crystals, respectively, suggested that a heliconical molecular order is most probably formed in the field-induced periodic stripe pattern, with the helix axis orthogonal to the stripes. To our knowledge, this is the first experimental evidence of field-induced chiral-symmetry breaking in the flexoelectric periodic stripe pattern in achiral bent core nematic, resulting in heliconical molecular order, resembling the one of twist-bend (TB) nematic phase in this kind of nematics. (C) 2018 Author(s).
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| 10. |
- Elamain, Omaima Abubakr, et al.
(författare)
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Polar flexoelectric in-plane and out-of-plane switching in bent core nematic mixtures
- 2016
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Ingår i: Japanese Journal of Applied Physics. - : IOP Publishing. - 0021-4922 .- 1347-4065. ; 55:7
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Tidskriftsartikel (refereegranskat)abstract
- Polar electro-optic response, arising from the coupling between an applied in-plane and out-of-plane dc electric field, respectively, and the flexoelectric polarization of bent core nematic liquid crystal mixtures with hybrid alignment is studied in conventional sandwich cells with homeotropic anchoring at one of the cell substrates and planar at the other. Such a hybrid alignment, however, results in a splay/bend elastic deformation of the nematic giving rise of a flexoelectric polarization. It was found that a pronounced polar electro-optic response, both in-plane and out of plane, took place in the bent core nematic mixtures at very low voltages due to the high flexoelectric polarization in these mixtures, compared with the one observed in calamitic liquid crystals.
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