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- Espada, D., et al.
(författare)
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Disentangling the Circumnuclear Environs of Centaurus A. II. On the Nature of the Broad Absorption Line
- 2010
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Ingår i: Astrophysical Journal. - 1538-4357 .- 0004-637X. ; 720:1, s. 666-678
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Tidskriftsartikel (refereegranskat)abstract
- We report on atomic gas (H I) and molecular gas (as traced by CO(2-1)) redshifted absorption features toward the nuclear regions of the closest powerful radio galaxy, Centaurus A (NGC 5128). Our H I observations using the Very Long Baseline Array allow us to discern with unprecedented sub-parsec resolution H I absorption profiles toward different positions along the 21 cm continuum jet in the inner 0farcs3 (or 5.4 pc). In addition, our CO(2-1) data obtained with the Submillimeter Array probe the bulk of the absorbing molecular gas with little contamination by emission, which was not possible with previous CO single-dish observations. We shed light on the physical properties of the gas in the line of sight with these data, emphasizing the still open debate about the nature of the gas that produces the broad absorption line (~55 km s–1). First, the broad H I line is more prominent toward the central and brightest 21 cm continuum component than toward a region along the jet at a distance ~20 mas (or 0.4 pc) further from the nucleus. This indicates that the broad absorption line arises from gas located close to the nucleus, rather than from diffuse and more distant gas. Second, the different velocity components detected in the CO(2-1) absorption spectrum match well with other molecular lines, such as those of HCO+(1-0), except the broad absorption line that is detected in HCO+(1-0) (and most likely related to that of the H I). Dissociation of molecular hydrogen due to the active galactic nucleus seems to be efficient at distances r lsim 10 pc, which might contribute to the depth of the broad H I and molecular lines.
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- Pihlstrom, L., et al.
(författare)
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Fine mapping and resequencing of the PARK16 locus in Parkinson's disease
- 2015
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Ingår i: Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1434-5161 .- 1435-232X. ; 60:7, s. 357-362
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Tidskriftsartikel (refereegranskat)abstract
- The PARK16 locus, spanning five genes on chromosome 1, was among the first genetic regions to show genome-wide association in Parkinson's disease (PD). Subsequent investigations have found variability in PARK16 top-hits and association patterns across populations, and the implicated genes and mechanisms are currently unclear. In the present study, we aimed to explore the contribution of PARK16 variability to PD risk in a Scandinavian population. We genotyped 17 single-nucleotide polymorphisms in a case-control sample set of 2570 individuals from Norway and Sweden to fine map the locus. Targeted resequencing of the full coding regions of SLC45A3, NUCKS1, RAB7L1, SLC41A1 and PM20D1 was performed in DNA pools from a subset of 387 patient samples. We find evidence for an association with PD for rs1775143 as well as a haplotype located around the 5' region of RAB7L1, implicating variants which are not in high linkage disequilibrium with the strongest signal from a recent large meta-analysis in Caucasians. We also provide suggestive support for epistasis between RAB7L1 and LRRK2 as previously hypothesized by others. Comparing our results with previous work, allelic heterogeneity at PARK16 appears likely, and further studies are warranted to disentangle the complex patterns of association and pinpoint the functionally relevant variants.
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- Pihlstrom, L., et al.
(författare)
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Supportive evidence for 11 loci from genome-wide association studies in Parkinson's disease
- 2013
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Ingår i: Neurobiology of Aging. - : Elsevier BV. - 0197-4580 .- 1558-1497. ; 34:6
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Tidskriftsartikel (refereegranskat)abstract
- enome-wide association studies have identified a number of susceptibility loci in sporadic Parkinson's disease (PD). Recent larger studies and meta-analyses have greatly expanded the list of proposed association signals. We performed a case-control replication study in a Scandinavian population, analyzing samples from 1345 unrelated PD patients and 1225 control subjects collected by collaborating centers in Norway and Sweden. Single-nucleotide polymorphisms representing 18 loci previously reported at genome-wide significance levels were genotyped, as well as 4 near-significant, suggestive, loci. We replicated 11 association signals at p < 0.05 (SNCA, STK39, MAPT, GPNMB, CCDC62/HIP1R, SYT11, GAK, STX1B, MCCC1/LAMP3, ACMSD, and FGF20). The more recently nominated susceptibility loci were well represented among our positive findings, including 3 which have not previously been validated in independent studies. Conversely, some of the more well-established loci failed to replicate. While future meta-analyses should corroborate disease associations further on the level of common markers, efforts to pinpoint functional variants and understand the biological implications of each risk locus in PD are also warranted.
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