| 1. |
- Palmer, Nicholette D, et al.
(författare)
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A genome-wide association search for type 2 diabetes genes in African Americans.
- 2012
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Ingår i: PloS one. - San Francisco : Public Library of Science (PLoS). - 1932-6203. ; 7:1, s. e29202-
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Tidskriftsartikel (refereegranskat)abstract
- African Americans are disproportionately affected by type 2 diabetes (T2DM) yet few studies have examined T2DM using genome-wide association approaches in this ethnicity. The aim of this study was to identify genes associated with T2DM in the African American population. We performed a Genome Wide Association Study (GWAS) using the Affymetrix 6.0 array in 965 African-American cases with T2DM and end-stage renal disease (T2DM-ESRD) and 1029 population-based controls. The most significant SNPs (n = 550 independent loci) were genotyped in a replication cohort and 122 SNPs (n = 98 independent loci) were further tested through genotyping three additional validation cohorts followed by meta-analysis in all five cohorts totaling 3,132 cases and 3,317 controls. Twelve SNPs had evidence of association in the GWAS (P<0.0071), were directionally consistent in the Replication cohort and were associated with T2DM in subjects without nephropathy (P<0.05). Meta-analysis in all cases and controls revealed a single SNP reaching genome-wide significance (P<2.5×10(-8)). SNP rs7560163 (P = 7.0×10(-9), OR (95% CI) = 0.75 (0.67-0.84)) is located intergenically between RND3 and RBM43. Four additional loci (rs7542900, rs4659485, rs2722769 and rs7107217) were associated with T2DM (P<0.05) and reached more nominal levels of significance (P<2.5×10(-5)) in the overall analysis and may represent novel loci that contribute to T2DM. We have identified novel T2DM-susceptibility variants in the African-American population. Notably, T2DM risk was associated with the major allele and implies an interesting genetic architecture in this population. These results suggest that multiple loci underlie T2DM susceptibility in the African-American population and that these loci are distinct from those identified in other ethnic populations.
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| 2. |
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| 3. |
- Pattaro, Cristian, et al.
(författare)
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Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
- 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
- Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.
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| 4. |
- Kester, O., et al.
(författare)
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Accelerated radioactive beams from REX-ISOLDE
- 2003
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Ingår i: Nuclear Instruments and Methods in Physics Research, Section B: Beam Interactions with Materials and Atoms. - 0168-583X. ; 204, s. 20-20
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Konferensbidrag (refereegranskat)abstract
- In 2001 the linear accelerator of the Radioactive beam EXperiment (REX-ISOLDE) delivered for the first time accelerated radioactive ion beams, at a beam energy of 2 MeV/u. REX-ISOLDE uses the method of charge-state breeding, in order to enhance the charge state of the ions before injection into the LINAC. Radioactive singly-charged ions from the on-line mass separator ISOLDE are first accumulated in a Penning trap, then charge bred to an A/q
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| 5. |
- Bergmann, U. C., et al.
(författare)
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Analysis of decay data from neutron-rich nuclei
- 2001
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Ingår i: European Physical Journal A. - 1434-601X .- 1434-6001. ; 11:3, s. 279-284
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Tidskriftsartikel (refereegranskat)abstract
- The beta -decays of the neutron-rich nuclei Be-12 and Ne-29 have been studied. The statistical correlations between the almost identical half-lives of Be-12 and its daughter B-12 are analysed for a large sample of Be-12 decay data. Stringent mutual bounds are obtained on the parameter set, leading to a precise determination of the Be-12 half-life of 21.50 +/- 0.04 ms. From a simultaneous detection of beta -particles and neutrons from the decay of Ne-29 the neutron emission probability, P-n, is determined to 17 +/- 5%. No indication of two-neutron emission is seen from this nucleus. An upper limit of 2.2% (90% confidence level) is established for P-2n.
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| 6. |
- Grieser, M., et al.
(författare)
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Storage ring at HIE-ISOLDE
- 2012
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Ingår i: European Physical Journal: Special Topics. - : Springer Science and Business Media LLC. - 1951-6401 .- 1951-6355. ; 207:1, s. 1-117
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Tidskriftsartikel (refereegranskat)abstract
- We propose to install a storage ring at an ISOL-type radioactive beam facility for the first time. Specifically, we intend to setup the heavy-ion, low-energy ring TSR at the HIE-ISOLDE facility in CERN, Geneva. Such a facility will provide a capability for experiments with stored secondary beams that is unique in the world. The envisaged physics programme is rich and varied, spanning from investigations of nuclear ground-state properties and reaction studies of astrophysical relevance, to investigations with highly-charged ions and pure isomeric beams. The TSR might also be employed for removal of isobaric contaminants from stored ion beams and for systematic studies within the neutrino beam programme. In addition to experiments performed using beams recirculating within the ring, cooled beams can also be extracted and exploited by external spectrometers for high-precision measurements. The existing TSR, which is presently in operation at the Max-Planck Institute for Nuclear Physics in Heidelberg, is well-suited and can be employed for this purpose. The physics cases as well as technical details of the existing ring facility and of the beam and infrastructure requirements at HIE-ISOLDE are discussed in the present technical design report.
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| 7. |
- Habs, D., et al.
(författare)
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The REX-ISOLDE project
- 2000
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Ingår i: Hyperfine Interactions. - 0304-3843 .- 1572-9540. ; 129:1-4, s. 43-66
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Tidskriftsartikel (refereegranskat)abstract
- The Radioactive Beam Experiment REX-ISOLDE [1-3] is a pilot experiment at ISOLDE (CERN) testing the new concept of post acceleration of radioactive ion beams by using charge breeding of the ions in a high charge state ion source and the efficient acceleration of the highly charged ions in a short LINAC using modern ion accelerator structures. In order to prepare the ions for the experiments singly charged radioactive ions from the on-line mass separator ISOLDE will be cooled and bunched in a Penning trap, charge bred in an electron beam ion source (EBIS) and finally accelerated in the LINAC. The LINAC consists of a radiofrequency quadrupole (RFQ) accelerator, which accelerates the ions up to 0.3 MeV/u, an interdigital H-type (IH) structure with a final energy between 1.1 and 1.2 MeV/u and three seven gap resonators, which allow the variation of the final energy. With an energy of the radioactive beams between 0.8 MeV/u and 2.2 MeV/u a wide range of experiments in the field of nuclear spectroscopy, astrophysics and solid state physics will be addressed by REX-ISOLDE.
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| 8. |
- Tengborn, Elisabeth, 1978, et al.
(författare)
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The 8Li + 2H reaction studied in inverse kinematics at 3.15 MeV/nucleon using the REX-ISOLDE post-accelerator
- 2011
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Ingår i: Physical Review C - Nuclear Physics. - 2469-9985 .- 2469-9993. ; 84:6, s. 064616-
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Tidskriftsartikel (refereegranskat)abstract
- The reaction 8Li + 2H has been studied in inverse kinematics at the incident energy of 3.15 MeV/nucleon, using the REX-ISOLDE post-accelerator. The reaction channels corresponding to (d,p), (d,d), and (d,t) reactions populating ground states and low-lying excited states in 7–9Li have been identified and the related angular distributions extracted and compared with coupled-channels, distorted-wave Born approximation (DWBA), and coupled-reaction-channels calculations. For the inelastic and (d,t) channels we find that higher order effects are very important and hence one needs to go beyond the simple DWBA to extract reliable structure information from these processes.
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| 9. |
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| 10. |
- Borge, M. J. G., et al.
(författare)
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Asymmetry in the super-allowed beta-transitions of the A=9 isobars
- 2004
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Ingår i: Nuclear Physics A. - : Elsevier BV. - 0375-9474. ; 738:1-4 SUPPL., s. 206-210
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Tidskriftsartikel (refereegranskat)abstract
- We report here on the recent beta-decay studies of the A = 9 isobar made at ISOLDE/CERN. Mirror beta transitions in the A=9 chain are compared and a large asymmetry factor is deduced for the transitions to high excitation energy in Be-9 (11.8 MeV) and B-9 (12.2 MeV) fed in the beta-decay of Li-9 and C-9 respectively. It is shown that the asymmetry is not due to experimental problems or differences in the mechanisms of breakup or in the spin of the states. Only differences in the partial decay branches of the breakup channels have been found. As no asymmetry is found in the gs to gs transition it must be due to the particular structure of these excited states.
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