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- 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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| 4. |
- Schael, S, et al.
(författare)
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Precision electroweak measurements on the Z resonance
- 2006
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Ingår i: Physics Reports. - : Elsevier BV. - 0370-1573 .- 1873-6270. ; 427:5-6, s. 257-454
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Forskningsöversikt (refereegranskat)abstract
- We report on the final electroweak measurements performed with data taken at the Z resonance by the experiments operating at the electron-positron colliders SLC and LEP. The data consist of 17 million Z decays accumulated by the ALEPH, DELPHI, L3 and OPAL experiments at LEP, and 600 thousand Z decays by the SLID experiment using a polarised beam at SLC. The measurements include cross-sections, forward-backward asymmetries and polarised asymmetries. The mass and width of the Z boson, m(Z) and Gamma(Z), and its couplings to fermions, for example the p parameter and the effective electroweak mixing angle for leptons, are precisely measured: m(Z) = 91.1875 +/- 0.0021 GeV, Gamma(Z) = 2.4952 +/- 0.0023 GeV, rho(l) = 1.0050 +/- 0.0010, sin(2)theta(eff)(lept) = 0.23153 +/- 0.00016. The number of light neutrino species is determined to be 2.9840 +/- 0.0082, in agreement with the three observed generations of fundamental fermions. The results are compared to the predictions of the Standard Model (SM). At the Z-pole, electroweak radiative corrections beyond the running of the QED and QCD coupling constants are observed with a significance of five standard deviations, and in agreement with the Standard Model. Of the many Z-pole measurements, the forward-backward asymmetry in b-quark production shows the largest difference with respect to its SM expectation, at the level of 2.8 standard deviations. Through radiative corrections evaluated in the framework of the Standard Model, the Z-pole data are also used to predict the mass of the top quark, m(t) = 173(+10)(+13) GeV, and the mass of the W boson, m(W) = 80.363 +/- 0.032 GeV. These indirect constraints are compared to the direct measurements, providing a stringent test of the SM. Using in addition the direct measurements of m(t) and m(W), the mass of the as yet unobserved SM Higgs boson is predicted with a relative uncertainty of about 50% and found to be less than 285 GeV at 95% confidence level. (c) 2006 Elsevier B.V. All rights reserved.
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- Niemi, MEK, et al.
(författare)
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- 2021
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swepub:Mat__t
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- Scherer, SW, et al.
(författare)
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Human chromosome 7: DNA sequence and biology
- 2003
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Ingår i: Science (New York, N.Y.). - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 300:5620, s. 767-772
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Tidskriftsartikel (refereegranskat)abstract
- DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate genes for developmental diseases including autism.
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- Abudurexiti, A, et al.
(författare)
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Taxonomy of the order Bunyavirales: update 2019
- 2019
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Ingår i: Archives of virology. - : Springer Science and Business Media LLC. - 1432-8798 .- 0304-8608. ; 164:7, s. 1949-1965
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Tidskriftsartikel (refereegranskat)
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| 36. |
- Bentham, James, et al.
(författare)
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A century of trends in adult human height
- 2016
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Ingår i: eLIFE. - 2050-084X. ; 5
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Tidskriftsartikel (refereegranskat)abstract
- Being taller is associated with enhanced longevity, and higher education and earnings. We reanalysed 1472 population-based studies, with measurement of height on more than 18.6 million participants to estimate mean height for people born between 1896 and 1996 in 200 countries. The largest gain in adult height over the past century has occurred in South Korean women and Iranian men, who became 20.2 cm (95% credible interval 17.522.7) and 16.5 cm (13.319.7) taller, respectively. In contrast, there was little change in adult height in some sub-Saharan African countries and in South Asia over the century of analysis. The tallest people over these 100 years are men born in the Netherlands in the last quarter of 20th century, whose average heights surpassed 182.5 cm, and the shortest were women born in Guatemala in 1896 (140.3 cm; 135.8144.8). The height differential between the tallest and shortest populations was 19-20 cm a century ago, and has remained the same for women and increased for men a century later despite substantial changes in the ranking of countries.
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| 37. |
- Bentham, James, et al.
(författare)
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A century of trends in adult human height
- 2016
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Ingår i: eLIFE. - : eLife Sciences Publications Ltd. - 2050-084X. ; 5
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Tidskriftsartikel (refereegranskat)abstract
- Being taller is associated with enhanced longevity, and higher education and earnings. We reanalysed 1472 population-based studies, with measurement of height on more than 18.6 million participants to estimate mean height for people born between 1896 and 1996 in 200 countries. The largest gain in adult height over the past century has occurred in South Korean women and Iranian men, who became 20.2 cm (95% credible interval 17.5–22.7) and 16.5 cm (13.3– 19.7) taller, respectively. In contrast, there was little change in adult height in some sub-Saharan African countries and in South Asia over the century of analysis. The tallest people over these 100 years are men born in the Netherlands in the last quarter of 20th century, whose average heights surpassed 182.5 cm, and the shortest were women born in Guatemala in 1896 (140.3 cm; 135.8– 144.8). The height differential between the tallest and shortest populations was 19-20 cm a century ago, and has remained the same for women and increased for men a century later despite substantial changes in the ranking of countries.
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| 38. |
- Bhattacharya, Romit, et al.
(författare)
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Risk factors for clonal hematopoiesis of indeterminate potential in people with HIV : a report from the REPRIEVE trial
- 2024
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Ingår i: Blood Advances. - 2473-9529. ; 8:4, s. 959-967
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Tidskriftsartikel (refereegranskat)abstract
- Clonal hematopoiesis of indeterminate potential (CHIP), the clonal expansion of myeloid cells with leukemogenic mutations, results in increased coronary artery disease (CAD) risk. CHIP is more prevalent among people with HIV (PWH), but the risk factors are unknown. CHIP was identified among PWH in REPRIEVE (Randomized Trial to Prevent Vascular Events in HIV) using whole-exome sequencing. Logistic regression was used to associate sociodemographic factors and HIV-specific factors with CHIP adjusting for age, sex, and smoking status. In the studied global cohort of 4486 PWH, mean age was 49.9 (standard deviation [SD], 6.4) years; 1650 (36.8%) were female; and 3418 (76.2%) were non-White. CHIP was identified in 223 of 4486 (4.97%) and in 38 of 373 (10.2%) among those aged ≥60 years. Age (odds ratio [OR], 1.07; 95% confidence interval [CI], 1.05-1.09; P < .0001) and smoking (OR, 1.37; 95% CI, 1.14-1.66; P < .001) associated with increased odds of CHIP. Globally, participants outside of North America had lower odds of CHIP including sub- Saharan Africa (OR, 0.57; 95% CI, 0.4-0.81; P = .0019), South Asia (OR, 0.45; 95% CI, 0.23-0.80; P = .01), and Latin America/Caribbean (OR, 0.56; 95% CI, 0.34-0.87; P = .014). Hispanic/Latino ethnicity (OR, 0.38; 95% CI, 0.23-0.54; P = .002) associated with significantly lower odds of CHIP. Among HIV-specific factors, CD4 nadir <50 cells/mm3 associated with a 1.9-fold (95% CI, 1.21-3.05; P = .006) increased odds of CHIP, with the effect being significantly stronger among individuals with short duration of antiretroviral therapy (ART; OR, 4.15; 95% CI, 1.51-11.1; P = .005) (Pinteraction= .0492). Among PWH at low-to-moderate CAD risk on stable ART, smoking, CD4 nadir, North American origin, and non-Hispanic ethnicity associated with increased odds of CHIP.
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| 39. |
- Boily, Jean-Francois, et al.
(författare)
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Thin Water Films at Multifaceted Hematite Particle Surfaces
- 2015
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Ingår i: Langmuir. - : American Chemical Society (ACS). - 0743-7463 .- 1520-5827. ; 31:48, s. 13127-13137
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Tidskriftsartikel (refereegranskat)abstract
- Mineral surfaces exposed to moist air stabilize nanometer- to micrometer-thick water films. This study resolves the nature of thin water film formation at multifaceted hematite (alpha-Fe2O3) nanoparticle surfaces with crystallographic faces resolved by selected area electron diffraction. Dynamic vapor adsorption (DVA) in the 0-19 Torr range at 298 K showed that these particles stabilize water films consisting of up to 4-5 monolayers. Modeling of these data predicts water loadings in terms of an adsorption regime (up to 16 H2O/nm(2)) involving direct water binding to hematite surface sites, and of a condensation regime (up to 34 H2O/nm(2)) involving water binding to hematite-bound water nanodusters. Vibration spectroscopy identified the predominant hematite surface hydroxo groups (-OH, mu-OH, mu(3)-OH) through which first layer water molecules formed hydrogen bonds, as well as surface iron sites directly coordinating water molecules (i.e., as geminal eta-(OH2)(2) sites). Chemometric analyses of the vibration spectra also revealed a strong correspondence in the response of hematite surface hydroxo groups to DVA-derived water loadings. These findings point to a near-saturation of the hydrogen-bonding environment of surface hydroxo groups at a partial water vapor pressure of similar to 8 Torr (similar to 40% relative humidity). Classical molecular dynamics (MD) resolved the interfacial water structures and hydrogen bonding populations at five representative crystallographic faces expressed in these nanoparticles. Simulations of single oriented slabs underscored the individual roles of all (hydro)oxo groups in donating and accepting hydrogen bonds with first layer water in the adsorption regime. These analyses pointed to the preponderance of hydrogen bond-donating -OH groups in the stabilization of thin water films. Contributions of mu-OH and mu(3)-OH groups are secondary, yet remain essential in the stabilization of thin water films. MD simulations also helped resolve crystallographic controls on water water interactions occurring in the condensation regime. Water water hydrogen bond populations are greatest on the (001) face, and decrease in importance in the order (001) > (012) approximate to (110) > (014) >> (100). Simulations of a single (similar to 5 nm x similar to 6 nm x similar to 6 nm) nanometric hematite particle terminated by the (001), (110), (012), and (100) faces also highlighted the key roles that sites at particle edges play in interconnecting thin water films grown along contiguous crystallographic faces. Hydroxo water hydrogen bond populations showed that edges were the preferential loci of binding. These simulations also suggested that equilibration times for water binding at edges were slower than on crystallographic faces. In this regard, edges, and by extension roughened surfaces, are expected to play commanding roles in the stabilization of thin water films. Thus, in focusing on the properties of nanometric-thick water layers at hematite surfaces, this study revealed the nature of interactions between water and multifaced particle surfaces. Our results pave the way for furthering our understanding of mineral-thin water film interfacial structure and reactivity on a broader range of materials.
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| 43. |
- Dulaimi, Anmar, et al.
(författare)
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Innovative geopolymer-based cold asphalt emulsion mixture as eco-friendly material
- 2023
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Ingår i: Scientific Reports. - : Springer. - 2045-2322. ; 13
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Tidskriftsartikel (refereegranskat)abstract
- In recent years, there has been a growing interest in cold asphalt emulsion mixture (CAEM) due to its numerous advantages, including reduced CO2 emissions, energy savings, and improved safety during construction and application. However, CAEM has often been considered inferior to hot mix asphalt (HMA) in terms of performance. To address this issue and achieve desirable performance characteristics, researchers have been exploring the modification of CAEM using high-cost additives like ordinary Portland cement. In this study, the focus was on investigating the effects of utilizing waste alkaline Ca(OH)2 solution, ground granulated blast-furnace slag (GGBFS), and calcium carbide residue (CCR) as modifiers to enhance the properties of CAEM. The aim was to develop an innovative geopolymer geopolymer-based cold asphalt emulsion mixture (GCAE). The results of the study revealed that the use of waste alkaline Ca(OH)2 solution led to an increase in early hydration, which was confirmed through scanning electron microscopy. Furthermore, the experimental findings demonstrated that waste alkaline Ca(OH)2 solution significantly contributed to the rapid development of early-age strength in GCAE. As a result, GCAE showed great potential for utilization in pavement applications, particularly for roads subjected to harsh service conditions involving moisture and temperature. By exploring these alternative modifiers, the study highlights a promising avenue for enhancing the performance of CAEM and potentially reducing the reliance on expensive additives like ordinary Portland cement. The development of GCAE has the potential to offer improved performance and durability in pavement applications, thus contributing to sustainable and efficient road infrastructure.
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| 45. |
- Goossens, Maria E., et al.
(författare)
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International pooled study on diet and bladder cancer : the bladder cancer, epidemiology and nutritional determinants (BLEND) study: design and baseline characteristics
- 2016
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Ingår i: Archives of Public Health. - : BMC. - 0778-7367 .- 2049-3258. ; 74
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Tidskriftsartikel (refereegranskat)abstract
- Background: In 2012, more than 400,000 urinary bladder cancer cases occurred worldwide, making it the 7th most common type of cancer. Although many previous studies focused on the relationship between diet and bladder cancer, the evidence related to specific food items or nutrients that could be involved in the development of bladder cancer remains inconclusive. Dietary components can either be, or be activated into, potential carcinogens through metabolism, or act to prevent carcinogen damage. Methods/design: The BLadder cancer, Epidemiology and Nutritional Determinants (BLEND) study was set up with the purpose of collecting individual patient data from observational studies on diet and bladder cancer. In total, data from 11,261 bladder cancer cases and 675,532 non-cases from 18 case-control and 6 cohort studies from all over the world were included with the aim to investigate the association between individual food items, nutrients and dietary patterns and risk of developing bladder cancer. Discussion: The substantial number of cases included in this study will enable us to provide evidence with large statistical power, for dietary recommendations on the prevention of bladder cancer.
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| 48. |
- Li, Cheng-Wang, et al.
(författare)
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Comparison of mechanical properties of various joining processes of aluminum-titanium light alloy
- 2023
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Ingår i: Suxing Gongcheng Xuebao/Journal of Plasticity Engineering. - : Beijing Res. Inst. of Mechanical and Elec. Technology. - 1007-2012. ; 30:8, s. 138-145
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Tidskriftsartikel (refereegranskat)abstract
- 5A06 aluminum alloy and TA1 titanium alloy were selected for the connection tests of flow drill screw, ultrasonic clinch and ultrasonic self-piercing riveting. The influence of plate overlap methods on mechanical properties of each group of joints was studied by static tensile tests. The results show that the mechanical properties of the flow drill screw joints and the ultrasonic self-piercing riveted joints are significantly improved when the soft plate is on top during the riveting process. The plate overlap method has little effect on the ultrasonic clinch joint. Flow drill screw joints have the best cushioning and shock absorption performance, but the stability is poor, and it is more limited when applied to body structures. Ultrasonic clinch joints have low cost and simple process, but poor shear resistance and are not suitable for body structures subjected to high stress. Compared with the other two connection methods, the ultrasonic self-piercing riveted connection has the best stability, the best tensile resistance and shear stiffness, and is suitable for much of the structure in lightweight field of automobile body. © 2023 Beijing Res. Inst. of Mechanical and Elec. Technology. All rights reserved.
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