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| 2. |
- Lawrenson, Kate, et al.
(författare)
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Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
- 2016
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10-3) and ABHD8 (P<2 × 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.
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| 3. |
- Hollestelle, Antoinette, et al.
(författare)
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No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
- 2016
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Ingår i: Gynecologic Oncology. - : Elsevier BV. - 0090-8258 .- 1095-6859. ; 141:2, s. 386-401
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Tidskriftsartikel (refereegranskat)abstract
- Objective Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3′ UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with survival time. However, prior studies, emphasizing particular subgroups, were relatively small. Therefore, we comprehensively evaluated ovarian and breast cancer risks as well as clinical outcome associated with rs61764370. Methods Centralized genotyping and analysis were performed for 140,012 women enrolled in the Ovarian Cancer Association Consortium (15,357 ovarian cancer patients; 30,816 controls), the Breast Cancer Association Consortium (33,530 breast cancer patients; 37,640 controls), and the Consortium of Modifiers of BRCA1 and BRCA2 (14,765 BRCA1 and 7904 BRCA2 mutation carriers). Results We found no association with risk of ovarian cancer (OR = 0.99, 95% CI 0.94-1.04, p = 0.74) or breast cancer (OR = 0.98, 95% CI 0.94-1.01, p = 0.19) and results were consistent among mutation carriers (BRCA1, ovarian cancer HR = 1.09, 95% CI 0.97-1.23, p = 0.14, breast cancer HR = 1.04, 95% CI 0.97-1.12, p = 0.27; BRCA2, ovarian cancer HR = 0.89, 95% CI 0.71-1.13, p = 0.34, breast cancer HR = 1.06, 95% CI 0.94-1.19, p = 0.35). Null results were also obtained for associations with overall survival following ovarian cancer (HR = 0.94, 95% CI 0.83-1.07, p = 0.38), breast cancer (HR = 0.96, 95% CI 0.87-1.06, p = 0.38), and all other previously-reported associations. Conclusions rs61764370 is not associated with risk of ovarian or breast cancer nor with clinical outcome for patients with these cancers. Therefore, genotyping this variant has no clinical utility related to the prediction or management of these cancers.
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| 4. |
- Benlliure, J., et al.
(författare)
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New experimental approaches to investigate the fission dynamics
- 2016
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Ingår i: AIP Conference Proceedings. - : Author(s). - 1551-7616 .- 0094-243X. - 9780735414112 ; 1753
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Konferensbidrag (refereegranskat)abstract
- The first ever achieved full identification of both fission fragments, in atomic and mass number, made it possible to define new observables sensitive to the fission dynamics along the fission path up to the scission point. Moreover, proton-induced fission of 208Pb at high energies offers optimal conditions for the investigation of dissipative, and transient effects, because of the high-excitation energy of the fissioning nuclei, its low angular momentum, and limited shape distortion by the reaction. In this work we show that the charge distribution of the final fission fragments can constrain the ground-to-saddle dynamics while the mass distribution is sensitive to the dynamics until the scission point.
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| 5. |
- Chatillon, A., et al.
(författare)
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Accurate measurements of fission-fragment yields in U-234,U-235,U-236,U-238(gamma,f) with the SOFIA set-up
- 2016
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Ingår i: EPJ Web of Conferences. - : EDP Sciences. - 2101-6275 .- 2100-014X. - 9782759819706 ; 111
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Konferensbidrag (refereegranskat)abstract
- SOFIA (Studies On Fission with Aladin) is a new experimental set-up dedicated to accurate measurement of fission-fragments isotopic yields. It is located at GSI, the only place to use inverse kinematics at relativistic energies in order to study the (gamma,f) electromagnetic-induced fission. The SOFIA set-up is a large-acceptance magnetic spectrometer, which allows to fully identify both fission fragments in coincidence on the whole fission-fragment range. This paper will report on fission yields obtained in U-234,U-235,U-236,U-238(gamma,f) reactions.
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| 6. |
- Engel, Philipp, et al.
(författare)
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The Bee Microbiome: Impact on Bee Health and Model for Evolution and Ecology of Host-Microbe Interactions
- 2016
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Ingår i: mBio. - : American Society for Microbiology. - 2161-2129 .- 2150-7511. ; 7:2
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Forskningsöversikt (refereegranskat)abstract
- As pollinators, bees are cornerstones for terrestrial ecosystem stability and key components in agricultural productivity. All animals, including bees, are associated with a diverse community of microbes, commonly referred to as the micro biome. The bee micro biome is likely to be a crucial factor affecting host health. However, with the exception of a few pathogens, the impacts of most members of the bee microbiome on host health are poorly understood. Further, the evolutionary and ecological forces that shape and change the microbiome are unclear. Here, we discuss recent progress in our understanding of the bee microbiome, and we present challenges associated with its investigation. We conclude that global coordination of research efforts is needed to fully understand the complex and highly dynamic nature of the interplay between the bee micro biome, its host, and the environment. High-throughput sequencing technologies are ideal for exploring complex biological systems, including host-microbe interactions. To maximize their value and to improve assessment of the factors affecting bee health, sequence data should be archived, curated, and analyzed in ways that promote the synthesis of different studies. To this end, the BeeBiome consortium aims to develop an online database which would provide reference sequences, archive metadata, and host analytical resources. The goal would be to support applied and fundamental research on bees and their associated microbes and to provide a collaborative framework for sharing primary data from different research programs, thus furthering our understanding of the bee microbiome and its impact on pollinator health.
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| 7. |
- Grente, L., et al.
(författare)
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The SOFIA experiment: Measurement of 236U fission fragment yields in inverse kinematics
- 2016
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Ingår i: EPJ Web of Conferences. - : EDP Sciences. - 2101-6275 .- 2100-014X. ; 122:01006
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Konferensbidrag (refereegranskat)abstract
- The SOFIA (Studies On FIssion with Aladin) experiment aims at measuring fission-fragments isotopic yields with high accuracy using inverse kinematics at relativistic energies. This experimental technique allows to fully identify the fission fragments in nuclear charge and mass number, thus providing very accurate isotopic yields for low energy fission of a large variety of fissioning systems. This report focuses on the latest results obtained with this set-up concerning electromagnetic-induced fission of 236U.
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| 8. |
- Laurent, M. R., et al.
(författare)
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Lower bone turnover and relative bone deficits in men with metabolic syndrome : a matter of insulin sensitivity? The European Male Ageing Study
- 2016
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Ingår i: Osteoporosis International. - : Springer Science and Business Media LLC. - 0937-941X .- 1433-2965. ; 27:11, s. 3227-3237
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Tidskriftsartikel (refereegranskat)abstract
- Summary: We examined cross-sectional associations of metabolic syndrome and its components with male bone turnover, density and structure. Greater bone mass in men with metabolic syndrome was related to their greater body mass, whereas hyperglycaemia, hypertriglyceridaemia or impaired insulin sensitivity were associated with lower bone turnover and relative bone mass deficits. Introduction: Metabolic syndrome (MetS) has been associated with lower bone turnover and relative bone mass or strength deficits (i.e. not proportionate to body mass index, BMI), but the relative contributions of MetS components related to insulin sensitivity or obesity to male bone health remain unclear. Methods: We determined cross-sectional associations of MetS, its components and insulin sensitivity (by homeostatic model assessment-insulin sensitivity (HOMA-S)) using linear regression models adjusted for age, centre, smoking, alcohol, and BMI. Bone turnover markers and heel broadband ultrasound attenuation (BUA) were measured in 3129 men aged 40–79. Two centres measured total hip, femoral neck, and lumbar spine areal bone mineral density (aBMD, n = 527) and performed radius peripheral quantitative computed tomography (pQCT, n = 595). Results: MetS was present in 975 men (31.2 %). Men with MetS had lower β C-terminal cross-linked telopeptide (β-CTX), N-terminal propeptide of type I procollagen (PINP) and osteocalcin (P <0.0001) and higher total hip, femoral neck, and lumbar spine aBMD (P ≤ 0.03). Among MetS components, only hypertriglyceridaemia and hyperglycaemia were independently associated with PINP and β-CTX. Hyperglycaemia was negatively associated with BUA, hypertriglyceridaemia with hip aBMD and radius cross-sectional area (CSA) and stress–strain index. HOMA-S was similarly associated with PINP and β-CTX, BUA, and radius CSA in BMI-adjusted models. Conclusions: Men with MetS have higher aBMD in association with their greater body mass, while their lower bone turnover and relative deficits in heel BUA and radius CSA are mainly related to correlates of insulin sensitivity. Our findings support the hypothesis that underlying metabolic complications may be involved in the bone’s failure to adapt to increasing bodily loads in men with MetS.
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| 9. |
- Rodriguez-Sanchez, J. L., et al.
(författare)
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Dissipative effects in fission investigated with proton-on-lead reactions
- 2016
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Ingår i: EPJ Web of Conferences. - : EDP Sciences. - 2101-6275 .- 2100-014X. - 9788874381012 ; 117, s. Art. no. 08017-
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Konferensbidrag (refereegranskat)abstract
- The complete kinematic measurement of the two fission fragments permitted us to investigate dissipative effects at large deformations, between the saddle-point and the corresponding scission configurations. Up to now, this kind of study has only been performed with fusionfission reactions using a limited number of observables, such as the mass distribution of the fission fragments or the neutron multiplicities. However, the large angular momenta gained by the compound nucleus could affect the conclusions drawn from such experiments. In this work, the use of spallation reactions, where the fissioning systems are produced with low angular momentum, small deformations and high excitation energies, favors the study of dissipation, and allowed us to define new observables, such as postscission neutron multiplicities and the neutron excess of the final fission fragments as a function of the atomic number of the fissioning system. These new observables are used to investigate the dissipation at large deformations.
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| 10. |
- Rodriguez-Sanchez, J. L., et al.
(författare)
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Light charged particles emitted in fission reactions induced by protons on Pb-208
- 2016
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Ingår i: Physical Review C. - 2469-9985 .- 2469-9993. ; 94:3
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Tidskriftsartikel (refereegranskat)abstract
- Light charged particles emitted in proton-induced fission reactions on Pb-208 have been measured at different kinetic energies: 370A, 500A, and 650A MeV. The experiment was performed by the SOFIA Collaboration at the GSI facilities in Darmstadt (Germany). The inverse kinematics technique was combined with a setup especially designed to measure light charged particles in coincidence with fission fragments. This measurement allowed us, for the first time, to obtain correlations between the light charged particles emitted during the fission process and the charge distributions of the fission fragments. These correlations were compared with different model calculations to assess the ground-to-saddle dynamics. The results confirm that transient and dissipative effects are required for an accurate description of the fission observables.
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