| 1. |
- Figlioli, G, et al.
(author)
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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
- 2019
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In: NPJ breast cancer. - : Springer Science and Business Media LLC. - 2374-4677. ; 5, s. 38-
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Journal article (peer-reviewed)abstract
- Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors.
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| 3. |
- Banerjee, D., et al.
(author)
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Towards a test of the Weak Equivalence Principle of gravity using anti-hydrogen at CERN
- 2016
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In: 2016 Conference On Precision Electromagnetic Measurements (CPEM 2016). - 9781467391344
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Conference paper (peer-reviewed)abstract
- The aim of the GBAR (Gravitational Behavior of Antimatter at Rest) experiment is to measure the free fall acceleration of an antihydrogen atom, in the terrestrial gravitational field at CERN and therefore test the Weak Equivalence Principle with antimatter. The aim is to measure the local gravity with a 1% uncertainty which can be reduced to few parts of 10(-3).
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| 4. |
- Bostrom, C, et al.
(author)
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Effects of a one-year physical activity programme for women with systemic lupus erythematosus - a randomized controlled study
- 2016
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In: Lupus. - : SAGE Publications. - 1477-0962 .- 0961-2033. ; 25:6, s. 602-616
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Journal article (peer-reviewed)abstract
- To study the effects of a one-year physical activity programme on aerobic capacity, physical activity and health-related quality of life (HRQL) in patients with systemic lupus erythematosus (SLE) by a randomized control design. Methods Thirty-five women with low or moderate disease activity and organ damage were randomized to intervention (I) or control (C) group. The intervention during months 0–3 consisted of education, supervised aerobic exercise at high intensity and individual coaching, as well as self-managed physical activity at low-to-moderate intensity. During months 4–12, the physical activity was self-managed and the coaching was successively reduced over time. Outcome measures included: maximal oxygen uptake (VO2 max) from a bicycle ergometer test, self-reported physical activity and HRQL (SF-36). Results VO2 at sub-max. and max. increased, independent of group, during the one-year study period (main effect of time p < 0.0001). VO2 max. increased between baseline and month 3 ( p < 0.0001), between months 3 and 6 ( p = 0.01) and the increase was sustained at month 12 (ns). Frequency of physical activity at high intensity also increased, independent of group, during the study period. It was increased at months 3, 6 and 12 compared to baseline ( p = 0.02, p < 0.001, p = 0.03). Improvement in mental health between baseline and month 6 ( p = 0.002) was seen for the I-group, not the C-group ( p = 0.03). Disease activity and organ damage did not change. Conclusions Physical activity and aerobic capacity increased after supervised exercise and coaching, and the improvement was sustained during the one-year programme. However, no interactions between the group differences were seen, which suggests that repeated measurements could motivate to increased physical activity and thereby to increased aerobic capacity. As sub-max. VO2 increased over time, training-induced changes in VO2 on-kinetics could be another explanation. Little influence on HRQL was seen after the programme. The study indicates that physical activity at high intensity over one year is tolerated by patients with mild to moderate SLE.
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| 5. |
- Perez, P., et al.
(author)
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The GBAR antimatter gravity experiment
- 2015
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In: Hyperfine Interactions. - : Springer Science and Business Media LLC. - 0304-3843 .- 1572-9540. ; , s. 21-27
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Conference paper (peer-reviewed)abstract
- The GBAR project (Gravitational Behaviour of Anti hydrogen at Rest) at CERN, aims to measure the free fall acceleration of ultracold neutral anti hydrogen atoms in the terrestrial gravitational field. The experiment consists preparing anti hydrogen ions (one antiproton and two positrons) and sympathetically cooling them with Be (+) ions to less than 10 mu K. The ultracold ions will then be photo-ionized just above threshold, and the free fall time over a known distance measured. We will describe the project, the accuracy that can be reached by standard techniques, and discuss a possible improvement to reduce the vertical velocity spread.
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| 6. |
- Bostrom, C, et al.
(author)
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Aerobic capacity correlates to self-assessed physical function but not to overall disease activity or organ damage in women with systemic lupus erythematosus with low-to-moderate disease activity and organ damage
- 2008
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In: Lupus. - : SAGE Publications. - 0961-2033 .- 1477-0962. ; 17:2, s. 100-104
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Journal article (peer-reviewed)abstract
- The present aim is to investigate the relationships between aerobic capacity and disease activity, organ damage, health-related quality of life (HRQL) and physical activity in 34 women with systemic lupus erythematosus (SLE) with low-to-moderate disease activity and organ damage. Mean age was 51 (SD 10) years, disease duration 17 (SD 11) years. Aerobic capacity (maximal oxygen uptake/VO2 max) was measured with a bicycle ergometer exercise test. Overall disease activity was assessed with Systemic Lupus Activity Measure (SLAM) and the modified Systemic Lupus Erythematosus-Disease Activity Index (modified SLE-DAI), overall organ damage with the Systemic Lupus International Collaboration Clinics/American College of Rheumatology-Damage Index, [SLICC/(ACR)-DI], HRQL with the 36-item Short-form health-survey (SF-36) and physical activity with a self-assessed question. The women who were low-to-moderately physically active had 89—92% ( P ≤ 0.001) of VO2 max predicted for sedentary women. Maximal oxygen uptake (L/min, mL/min/kg) correlated to SF-36 physical function ( rs = 0.49, rs = 0.72) ( P ≤ 0.01), but not ( rs ≤ 0.25) to other HRQL scales, overall disease activity or organ damage or physical activity. The correlation between aerobic capacity and physical function and the absence of correlation between aerobic capacity and physical activity, suggest a possible disease-related factor behind the low aerobic capacity. However, with no correlation between aerobic capacity and overall disease activity and organ damage, low physical activity may contribute to the low aerobic capacity in our sample. Lupus (2008) 17, 100—104.
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| 8. |
- Dengler, Jürgen, et al.
(author)
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Working group on dry grasslands in the Nordic and Baltic region – Outline of the project and first results for the class Festuco-Brometea
- 2006
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In: Annali di Botanica N.S.. - 0365-0812. ; 6, s. 73-100
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Journal article (peer-reviewed)abstract
- The vegetation databank established by our working group covers the classes Festuco-Brometea, Koelerio-Corynephoretea, and Trifolio-Geranietea sanguinei in the Nordic and Baltic region, i.e. NE Germany, Denmark, Norway, Sweden, Finland, N Poland, Lithuania, Latvia, Estonia, and NW Russia. We aim to use these data to develop a consistent supra-national phytosociological classification of these xerothermic vegetation types in the study area and to analyse their biodiversity patterns. Up to now, we located some 12,500 relevés meeting our criteria, and more than 3,500 of them have already been included in the databank. We give an overview of the properties of these relevés as regards coverage of syntaxa and countries, source types, plot sizes, and cryptogam treatment. We also present first analyses for the basiphilous semi-dry grasslands (Brachypodietalia pinnati) within the Festuco-Brometea. For this group of communities, many different and incompatible classification schemes have been proposed. We give an overview of the alliance and association names that have been in use for them in the study area, accompanied by a nomenclatural assessment. The relevés presently included in the databank have been tentatively assigned to those vegetation classes whose diagnostic taxa were prevailing. Accordingly, more than 2,000 relevés have been placed in the Festuco-Brometea. These show considerable floristic differences compared to stands of the southern temperate Brachypodietalia pinnati alliances Bromion erecti, Cirsio-Brachypodion pinnati, and Agrostion vinealis. The presence degrees of Avenula pratensis and Homalothecium lutescens, for instance, are significantly increased in the study area, and those of Festuca rupicola and Euphorbia cyparissias decreased. An analysis of the species-area relationship yielded a power function with z = 0.09 which is considerably lower than increments determined by nested-plot analyses of this commu-nity type, indicating the probable incompleteness of the species lists for many of the larger plots. Finally, we give an outlook on the future objectives of the working group.
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