| 1. |
- Artigas Soler, María, et al.
(författare)
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Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
- 2011
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 43:11, s. 1082-90
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Tidskriftsartikel (refereegranskat)abstract
- Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European ancestry with follow up of the top associations in up to an additional 46,411 individuals. We identified new regions showing association (combined P < 5 × 10(-8)) with pulmonary function in or near MFAP2, TGFB2, HDAC4, RARB, MECOM (also known as EVI1), SPATA9, ARMC2, NCR3, ZKSCAN3, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1 and KCNE2. Identification of these 16 new loci may provide insight into the molecular mechanisms regulating pulmonary function and into molecular targets for future therapy to alleviate reduced lung function.
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| 2. |
- Sperduti, Andrea, et al.
(författare)
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Results of the first user program on the HOmogeneous Thermal NEutron Source HOTNES (ENEA/INFN)
- 2017
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Ingår i: Journal of Instrumentation. - : IOP PUBLISHING LTD. - 1748-0221 .- 1748-0221. ; 12
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Tidskriftsartikel (refereegranskat)abstract
- The HOmogeneous Thermal NEutron Source (HOTNES) is a new type of thermal neutron irradiation assembly developed by the ENEA-INFN collaboration. The facility is fully characterized in terms of neutron field and dosimetric quantities, by either computational and experimental methods. This paper reports the results of the first "HOTNES users program", carried out in 2016, and covering a variety of thermal neutron active detectors such as scintillators, solid-state, single crystal diamond and gaseous detectors.
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| 3. |
- Gretarsdottir, Solveig, et al.
(författare)
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Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 42:8, s. 71-692
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Tidskriftsartikel (refereegranskat)abstract
- We performed a genome-wide association study on 1,292 individuals with abdominal aortic aneurysms (AAAs) and 30,503 controls from Iceland and The Netherlands, with a follow-up of top markers in up to 3,267 individuals with AAAs and 7,451 controls. The A allele of rs7025486 on 9q33 was found to associate with AAA, with an odds ratio (OR) of 1.21 and P = 4.6 x 10(-10). In tests for association with other vascular diseases, we found that rs7025486[A] is associated with early onset myocardial infarction (OR = 1.18, P = 3.1 x 10(-5)), peripheral arterial disease (OR = 1.14, P = 3.9 x 10(-5)) and pulmonary embolism (OR = 1.20, P = 0.00030), but not with intracranial aneurysm or ischemic stroke. No association was observed between rs7025486[A] and common risk factors for arterial and venous diseases-that is, smoking, lipid levels, obesity, type 2 diabetes and hypertension. Rs7025486 is located within DAB2IP, which encodes an inhibitor of cell growth and survival.
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| 4. |
- Helgadottir, Anna, et al.
(författare)
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Apolipoprotein(a) Genetic Sequence Variants Associated With Systemic Atherosclerosis and Coronary Atherosclerotic Burden But Not With Venous Thromboembolism
- 2012
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Ingår i: Journal of the American College of Cardiology. - : Elsevier BV. - 0735-1097 .- 1558-3597. ; 60:8, s. 722-729
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Tidskriftsartikel (refereegranskat)abstract
- Objectives The purpose of this study is investigate the effects of variants in the apolipoprotein(a) gene (LPA) on vascular diseases with different atherosclerotic and thrombotic components. Background It is unclear whether the LPA variants rs10455872 and rs3798220, which correlate with lipoprotein(a) levels and coronary artery disease (CAD), confer susceptibility predominantly via atherosclerosis or thrombosis. Methods The 2 LPA variants were combined and examined as LPA scores for the association with ischemic stroke (and TOAST [Trial of Org 10172 in Acute Stroke Treatment] subtypes) (effective sample size [n(e)] = 9,396); peripheral arterial disease (n(e) = 5,215); abdominal aortic aneurysm (ne = 4,572); venous thromboembolism (ne = 4,607); intracranial aneurysm (ne = 1,328); CAD (n(e) = 12,716), carotid intima-media thickness (n = 3,714), and angiographic CAD severity (n = 5,588). Results LPA score was associated with ischemic stroke subtype large artery atherosclerosis (odds ratio [OR]: 1.27; p = 6.7 X 10(-4)), peripheral artery disease (OR: 1.47; p = 2.9 x 10(-14)), and abdominal aortic aneurysm (OR: 1.23; p = 6.0 x 10(-5)), but not with the ischemic stroke subtypes cardioembolism (OR: 1.03; p = 0.69) or small vessel disease (OR: 1.06; p = 0.52). Although the LPA variants were not associated with carotid intima-media thickness, they were associated with the number of obstructed coronary vessels (p = 4.8 x 10(-12)). Furthermore, CAD cases carrying LPA risk variants had increased susceptibility to atherosclerotic manifestations outside of the coronary tree (OR: 1.26; p = 0.0010) and had earlier onset of CAD (-1.58 years/allele; p = 8.2 x 10(-8)) than CAD cases not carrying the risk variants. There was no association of LPA score with venous thromboembolism (OR: 0.97; p = 0.63) or intracranial aneurysm (OR: 0.85; p = 0.15). Conclusions LPA sequence variants were associated with atherosclerotic burden, but not with primarily thrombotic phenotypes. (J Am Coll Cardiol 2012; 60: 722-9) (C) 2012 by the American College of Cardiology Foundation
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| 5. |
- Hernandez-Molina, F. J., et al.
(författare)
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Oceanographic processes and morphosedimentary products along the Iberian margins: A new multidisciplinary approach
- 2016
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Ingår i: Marine Geology. - : Elsevier BV. - 0025-3227. ; 378, s. 127-156
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Tidskriftsartikel (refereegranskat)abstract
- Our understanding of bottom-currents and associated oceanographic processes (e.g., overflows, barotropic tidal currents) including intermittent processes (e.g., vertical eddies, deep sea storms, horizontal vortices, internal waves and tsunamis) is rapidly evolving. Many deep-water processes remain poorly understood due to limited direct observations, but can generate significant depositional and erosional features on both short and long term time scales. This paper represents a review work, which describes for the first time these oceanographic processes and examines their potential role in the sedimentary features along the Iberian continental margins. This review explores the implications of the studied processes, given their secondary role relative to other factors such as mass-transport and turbiditic processes, and highlights three major results: a) contourite depositional and erosional features are ubiquitous along the margins, indicating that bottom currents and associated oceanographic processes control the physiography and sedimentation; b) the position of interfaces between major water masses and their vertical and spatial variation in time specifically appears to exert primary control in determining major morphologic changes along the slope gradient, including the contourite terraces development; and c) contourites deposits exhibit greater variation than the established fades model suggests. Therefore, a consistent facies model however faces substantial challenges in terms of the wide range of oceanographic processes that can influence in their development. An integrated interpretation of these oceanographic processes requires an understanding of contourites, seafloor features, their spatial and temporal evolution, and the near-bottom flows that form them. This approach will synthesize oceanographic data, seafloor morphology, sediments and seismic images to improve our knowledge of permanent and intermittent processes around Iberia, and evaluate their conceptual and regional role in the margin's sedimentary evolution. Given their complexes, three-dimensional and temporally-variable nature, integration of these processes into sedimentary, oceanographic and climatological frameworks will require a multidisciplinary approach that includes Geology, Physical oceanography, Paleoceanography and Benthic Biology.
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| 6. |
- Hernandez Molina, Javier, et al.
(författare)
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Oceanographic processes and products around the Iberian margin: a new multidisciplinary approach : Procesos oceanográficos y sus productos alrededor del margen de Iberia: una nueva aproximación multidisciplinar
- 2015
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Ingår i: Boletín Geológico y Minero. - 0366-0176 .- 0366-0176. ; 126:2-3, s. 279-326
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Tidskriftsartikel (refereegranskat)abstract
- Our understanding of the role of bottom-current and associated oceanographic processes (as overflows, barotropic currents, tides or intermittent processes like giant vertical eddies, deep sea storms, horizontal vortices, internal waves and tsunamis) is rapidly improving. But, most of these oceanographic deep-water processes remains poorly understood and have been rarely observed but believed to be capable of generating depositional and erosional features in many contexts at both short and long term. In present compilation we described these oceanographic processes including examples or their potential role in the sedimentation processes around the Iberia margin. Importance of these processes is highlighted and its implication discussed to demonstrate that these oceanographic processes are very important is affecting the shape and evolution of the Iberian continental margin and adjacent oceanic basins although is not still considered as important as other factors as mass-transport deposits and turbiditic processes. To have a better understanding on the implication of all these oceanographic processes connections have to be made between (contourite) sea-floor features, their spatial and temporal evolution, and the near-bottom flows that form them. The only way to achieve that in next decades is by a more intensive collaboration between specialist from Geology, Oceanography and Benthic Biology in new multi-disciplinary studies. Consequently, further multi-disciplinary approach uses oceanographic data, sea-floor morphology, sediments and seismic characterization will be essential for improve our knowledge of these permanent and intermittent processes around Iberia and evaluate their conceptual and regional role in the margins evolution over time and space.
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| 7. |
- Rodriguez-Tajes, C., et al.
(författare)
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Neutron Knockout at Relativistic Energies across the Psd Shell
- 2009
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Ingår i: Acta Physica Polonica, Series B.. - 1509-5770 .- 0587-4254. ; 40:3, s. 859-862
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Konferensbidrag (refereegranskat)abstract
- One-neutron knockout reactions have been studied in a systematic way for a set of neutron-rich projectiles. The goal of the experiment, performed at GSI, was to explore the evolution of the nuclear structure close to the neutron drip line, in the region between C and Al. The momentum distributions of the surviving fragments and the cross-sections of the knockout process have been measured and used as physical observables. This report focuses on oxygen and nitrogen isotopes around N = 14. In particular, we discuss the Case Of N-12, for which the mentioned observables have been determined for the first time. We will consider O-23, already studied in earlier experiments, as a reference.
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| 8. |
- Daafouz, J., et al.
(författare)
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Switched and piecewise affine systems
- 2009
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Ingår i: Handbook of Hybrid Systems Control. - : Cambridge Press. - 9780511807930 - 9780511807930 ; , s. 87-138
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 9. |
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| 10. |
- Helgadottir, Anna, et al.
(författare)
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The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm
- 2008
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 40:2, s. 217-224
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Tidskriftsartikel (refereegranskat)abstract
- Recently, two common sequence variants on 9p21, tagged by rs10757278-G and rs10811661-T, were reported to be associated with coronary artery disease (CAD)(1-4) and type 2 diabetes (T2D)(5-7), respectively. We proceeded to further investigate the contributions of these variants to arterial diseases and T2D. Here we report that rs10757278-G is associated with, in addition to CAD, abdominal aortic aneurysm (AAA; odds ratio (OR) 1.31, P = 1.2 x 10(-12)) and intracranial aneurysm (OR = 1.29, P = 2.5 x 10(-6)), but not with T2D. This variant is the first to be described that affects the risk of AAA and intracranial aneurysm in many populations. The association of rs10811661-T to T2D replicates in our samples, but the variant does not associate with any of the five arterial diseases examined. These findings extend our insight into the role of the sequence variant tagged by rs10757278-G and show that it is not confined to atherosclerotic diseases.
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