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| 2. |
- van Es, Michael A, et al.
(författare)
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Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
- 2009
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:10, s. 1083-1087
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Tidskriftsartikel (refereegranskat)abstract
- We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < 1.0 x 10(-4) in a second, independent cohort of 2,532 affected individuals and 5,940 controls. Analysis of the genome-wide data revealed genome-wide significance for one SNP, rs12608932, with P = 1.30 x 10(-9). This SNP showed robust replication in the second cohort (P = 1.86 x 10(-6)), and a combined analysis over the two stages yielded P = 2.53 x 10(-14). The rs12608932 SNP is located at 19p13.3 and maps to a haplotype block within the boundaries of UNC13A, which regulates the release of neurotransmitters such as glutamate at neuromuscular synapses. Follow-up of additional SNPs showed genome-wide significance for two further SNPs (rs2814707, with P = 7.45 x 10(-9), and rs3849942, with P = 1.01 x 10(-8)) in the combined analysis of both stages. These SNPs are located at chromosome 9p21.2, in a linkage region for familial ALS with frontotemporal dementia found previously in several large pedigrees.
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| 3. |
- Lozeva, R. L., et al.
(författare)
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New sub-us Isomers in 125Sn, 127Sn, 129Sn and Isomer Systematics of 124-130Sn
- 2008
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 77:6
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Tidskriftsartikel (refereegranskat)abstract
- New sub-mu s isomers have been observed in the neutron-rich Sn isotopes. Sn-125,Sn-127,Sn-129 nuclei have been produced in a relativistic fission reaction of U-238 on a Be-9 target at 750 A.MeV and by the fragmentation of Xe-136 at 600 A.MeV populating high-spin yrast states. In addition to the already known mu s isomers, three new ones with sub-mu s half-lives have been observed. These yrast isomers are the high-spin members of the nu(d(3/2)(-1)h(11/2)(-2)) and nu h(11/2)(-n), seniority v = 3 multiplets leading to isomeric (23/2(+)) and (27/2(-)) states, respectively. Added to the already known 19/2(+)mu s isomers in this region the current work completes the systematic information of neutron-hole excitations toward the filling of the last h(11/2) orbital at N = 82. The results are discussed in the framework of state-of-the-art shell-model calculations using realistic interactions.
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| 4. |
- Neyens, G., et al.
(författare)
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g-Factor Measurements on Relativistic Isomeric Beams Produced by Fragmentation and U-fission: The g-RISING Project at GSI
- 2007
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Ingår i: Acta Physica Polonica. Series B: Elementary Particle Physics, Nuclear Physics, Statistical Physics, Theory of Relativity, Field Theory. - 0587-4254. ; 38:4, s. 1237-1247
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Tidskriftsartikel (refereegranskat)abstract
- Within the RISING (Rare ISotope INvestigations @ GSI) Collaboration at GSI, g factor measurements have been performed on isomeric states in neutron-rich isotopes approaching Sn-132 and in the neutron deficient Pb-region (the g-RISING campaign). We present the experimental technique and some typical aspects related to such studies on relativistic beams selected with the FRS fragment separator. First results are presented for the (19/2(+)) 4.5 mu s isomeric state in Sn-127, which has been produced by means of fission of a relativistic U-238 beam on the one hand, and by the fragmentation of a relativistic Xe-136 beam on the other hand. Spin-alignment has been observed in both reactions. It was the first time that spin-alignment has been established in a relativistic fission reaction.
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| 7. |
- Luijsterburg, MS, et al.
(författare)
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Heterochromatin protein 1 is recruited to various types of DNA damage
- 2009
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Ingår i: The Journal of cell biology. - : Rockefeller University Press. - 1540-8140 .- 0021-9525. ; 185:4, s. 577-586
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Tidskriftsartikel (refereegranskat)abstract
- Heterochromatin protein 1 (HP1) family members are chromatin-associated proteins involved in transcription, replication, and chromatin organization. We show that HP1 isoforms HP1-α, HP1-β, and HP1-γ are recruited to ultraviolet (UV)-induced DNA damage and double-strand breaks (DSBs) in human cells. This response to DNA damage requires the chromo shadow domain of HP1 and is independent of H3K9 trimethylation and proteins that detect UV damage and DSBs. Loss of HP1 results in high sensitivity to UV light and ionizing radiation in the nematode Caenorhabditis elegans, indicating that HP1 proteins are essential components of DNA damage response (DDR) systems. Analysis of single and double HP1 mutants in nematodes suggests that HP1 homologues have both unique and overlapping functions in the DDR. Our results show that HP1 proteins are important for DNA repair and may function to reorganize chromatin in response to damage.
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| 8. |
- Purdue, Mark P, et al.
(författare)
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Impaired lung function and lung cancer incidence in a cohort of Swedish construction workers.
- 2007
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Ingår i: Thorax. - : BMJ. - 0040-6376 .- 1468-3296. ; 62:1, s. 51-6
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Although impaired lung function in general has been associated with an increased risk of lung cancer, past studies typically have not attempted to investigate separately the obstructive and restrictive components of respiratory impairment. To deal with this question further, data from a large (n = 176 997) cohort of male Swedish construction workers, for whom spirometry measurements before follow-up were available, were analysed. METHODS: Cancer incidence for 1971-2001 was obtained through linkage with the national cancer registry. Using a modification of the Global Initiative for Chronic Obstructive Lung Disease criteria for chronic obstructive pulmonary disease (COPD), subjects were classified into five categories of lung function: normal, mild COPD, moderate COPD, severe COPD and restrictive lung disease (RLD). Rate ratios (RR) and 95% confidence intervals (CI) for lung cancer across lung function categories were calculated using Poisson regression, adjusted for age and smoking. Other end points (histological types of lung cancer, non-lung tobacco-related cancers, other cancers, total mortality) were also investigated. RESULTS: 834 incident cases of lung cancer were identified. Increased rates of lung cancer were observed for both COPD (mild: RR 1.5, 95% CI 1.2 to 1.9; moderate/severe: RR 2.2, 95% CI 1.8 to 2.7) and RLD (RR 2.0, 95% CI 1.6 to 2.5) relative to normal lung function. These associations did not meaningfully change on applying follow-up lag times of 5, 10 and 15 years after spirometry. When analysed by histological type, associations with both COPD and RLD were stronger for squamous cell carcinoma and small cell carcinoma, and weaker for adenocarcinoma. Both COPD and RLD were associated with increased rates of total mortality. CONCLUSIONS: Obstructive and restrictive impairments in lung function are associated with increased lung cancer risk.
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