| 1. |
- Forabosco, P., et al.
(författare)
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Meta-analysis of genome-wide linkage studies of systemic lupus erythematosus
- 2006
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Ingår i: Genes and Immunity. - : Springer Science and Business Media LLC. - 1466-4879 .- 1476-5470. ; 7:7, s. 609-614
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Tidskriftsartikel (refereegranskat)abstract
- A genetic contribution to the development of systemic lupus erythematosus (SLE) is well established. Several genome-wide linkage scans have identified a number of putative susceptibility loci for SLE, some of which have been replicated in independent samples. This study aimed to identify the regions showing the most consistent evidence for linkage by applying the genome scan meta-analysis (GSMA) method. The study identified two genome-wide suggestive regions on 6p21.1-q15 and 20p11-q13.13 (P-value=0.0056 and P-value=0.0044, respectively) and a region with P-value<0.01 on 16p13-q12.2.The region on chromosome 6 contains the human leukocyte antigen cluster, and the chromosome 16 and 20 regions have been replicated in several cohorts. The potential importance of the identified genomic regions are also highlighted. These results, in conjunction with data emerging from dense single nucleotide polymorphism typing of specific regions or future genome-wide association studies will help guide efforts to identify the actual predisposing genetic variation contributing to this complex genetic disease.
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| 2. |
- Högström, Ulf, et al.
(författare)
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Momentum fluxes and wind gradients in the marine boundary layer : a multi platform study
- 2008
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Ingår i: Boreal environment research. - 1239-6095 .- 1797-2469. ; 13:6, s. 475-502
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Tidskriftsartikel (refereegranskat)abstract
- During five autumn weeks, measurements of turbulent fluxes were obtained in the Baltic Sea at three levels on a 30-m tower and two levels on an ASIS buoy 4 km from the tower together with profiles of wind and temperature. Wave data and SST were obtained from ASIS. In the mean, momentum fluxes measured on the tower and on ASIS during onshore winds agree closely. Dimensionless wind gradients phi(m)(z/L) for (i) stable conditions are linear in z/L (L is the Obukhov length); (ii) unstable, growing sea conditions are much smaller than predicted by 'standard' equations, due to an indirect effect of the boundary layer height. Individual wind profiles extrapolated from ASIS to tower by integration of phi(m)(z/L) deviate by about 0.5 m s(-1) from measured values, but corresponding mean profiles agree well for all levels from 1.18 m to 30 m. This random variation in the wind field is shown to be related to inherent dynamics of the atmospheric surface layer.
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| 3. |
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| 4. |
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| 5. |
- Pomp, S, et al.
(författare)
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The new Uppsala neutron beam facility
- 2005
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Ingår i: Proc. of the Int. conf. on Nuclear Data for Sceince and Technology: Santa Fé, New Mexico, USA, September 26-October 1, 2004. ; , s. 780-
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Konferensbidrag (refereegranskat)
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| 6. |
- Sarsour, M., et al.
(författare)
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Measurement of the Absolute Differential Cross Section for np Elastic Scattering at 194 MeV
- 2006
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Ingår i: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 74:4, s. 044003-
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Tidskriftsartikel (refereegranskat)abstract
- A tagged medium-energy neutron beam was used in a precise measurement of the absolute differential cross section for np backscattering. The results resolve significant discrepancies within the np database concerning the angular dependence in this regime. The experiment has determined the absolute normalization with +/- 1.5% uncertainty, suitable to verify constraints of supposedly comparable precision that arise from the rest of the database in partial wave analyses. The analysis procedures, especially those associated with the evaluation of systematic errors in the experiment, are described in detail so that systematic uncertainties may be included in a reasonable way in subsequent partial wave analysis fits incorporating the present results.
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| 7. |
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| 8. |
- Abelson, Anna-Karin, et al.
(författare)
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No evidence of association between genetic variants of the PDCD1 ligands and SLE
- 2007
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Ingår i: Genes and Immunity. - : Springer Science and Business Media LLC. - 1466-4879 .- 1476-5470. ; 8:1, s. 69-74
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Tidskriftsartikel (refereegranskat)abstract
- PDCD1, an immunoreceptor involved in peripheral tolerance has previously been shown to be genetically associated with systemic lupus erythematosus (SLE). PDCD1 has two ligands whose genes are located in close proximity on chromosome 9p24. Our attention was drawn to these ligands after finding suggestive linkage to a marker (gata62f03, Z=2.27) located close to their genes in a genome scan of Icelandic families multiplex for SLE. Here, we analyse Swedish trios (N=149) for 23 single nucleotide polymorphisms (SNPs) within the genes of the PDCD1 ligands. Initially, indication of association to eight SNPs was observed, and these SNPs were therefore also analysed in Mexican trios (N=90), as well as independent sets of patients and controls from Sweden (152 patients, 448 controls) and Argentina (288 patients, 288 controls). We do not find support for genetic association to SLE. This is the first genetic study of SLE and the PDCD1 ligands and the lack of association in several cohorts implies that these genes are not major risk factors for SLE.
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| 9. |
- Al-Minawi, Ali Z., et al.
(författare)
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The ERCC1/XPF endonuclease is required for completion of homologous recombination at DNA replication forks stalled by inter-strand cross-links
- 2009
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Ingår i: Nucleic Acids Research. - : Oxford University Press (OUP). - 0305-1048 .- 1362-4962. ; 37:19, s. 6400-6413
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Tidskriftsartikel (refereegranskat)abstract
- Both the ERCC1-XPF complex and the proteins involved in homoIogous recombination (HR) have critical roles in inter-strand cross-link (ICL) repair. Here, we report that mitomycin C-induced lesions inhibit replication fork elongation. Furthermore, mitomycin C-induced DNA double-strand breaks (DSBs) are the result of the collapse of ICL-stalled replication forks. These are not formed through replication run off, as we show that mitomycin C or cisplatin-induced DNA lesions are not incised by global genome nucleotide excision repair (GGR). We also suggest that ICL-lesion repair is initiated either by replication or transcription, as the GGR does not incise ICL-lesions. Furthermore, we report that RAD51 foci are induced by cisplatin or mitomycin C independently of ERCC1, but that mitomycin C-induced HR measured in a reporter construct is impaired in ERCC1-defective cells. These data suggest that ERCC1-XPF plays a role in completion of HR in ICL repair. We also find no additional sensitivity to cisplatin by siRNA co-depletion of XRCC3 and ERCC1, showing that the two proteins act on the same pathway to promote survival.
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| 10. |
- Andersson, Anna, et al.
(författare)
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Microarray-based classification of a consecutive series of 121 childhood acute leukemias: prediction of leukemic and genetic subtype as well as of minimal residual disease status.
- 2007
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Ingår i: Leukemia. - : Springer Science and Business Media LLC. - 1476-5551 .- 0887-6924. ; 21:6, s. 1198-1203
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Tidskriftsartikel (refereegranskat)abstract
- Gene expression analyses were performed on 121 consecutive childhood leukemias (87 B-lineage acute lymphoblastic leukemias (ALLs), 11 T-cell ALLs and 23 acute myeloid leukemias (AMLs)), investigated during an 8-year period at a single center. The supervised learning algorithm k-nearest neighbor was utilized to build gene expression predictors that could classify the ALLs/AMLs according to clinically important subtypes with high accuracy. Validation experiments in an independent data set verified the high prediction accuracies of our classifiers. B-lineage ALLs with uncharacteristic cytogenetic aberrations or with a normal karyotype displayed heterogeneous gene expression profiles, resulting in low prediction accuracies. Minimal residual disease status (MRD) in T-cell ALLs with a high (40.1%) MRD at day 29 could be classified with 100% accuracy already at the time of diagnosis. In pediatric leukemias with uncharacteristic cytogenetic aberrations or with a normal karyotype, unsupervised analysis identified two novel subgroups: one consisting mainly of cases remaining in complete remission (CR) and one containing a few patients in CR and all but one of the patients who relapsed. This study of a consecutive series of childhood leukemias confirms and extends further previous reports demonstrating that global gene expression profiling provides a valuable tool for genetic and clinical classification of childhood leukemias.
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