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| 2. |
- Larsson, Jobs Karl, et al.
(författare)
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Genetic impoverishment of the last Black grouse (Tetrao tetrix) population in the Netherlands
- 2008
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Ingår i: Molecular Ecology. - 0962-1083 .- 1365-294X. ; 17:8, s. 1897-1904
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Tidskriftsartikel (refereegranskat)abstract
- We have studied a small isolated population of black grouse (Tetrao tetrix) in the Netherlands to examine the impact of isolation and reduction in numbers on genetic diversity. We compared the genetic diversity in the last extant Dutch population with Dutch museum samples and three other black grouse populations (from England, Austria and Norway, respectively) representing isolated and continuous populations. We found significantly lower allelic richness, observed and expected heterozygosities in the present Dutch population compared to the continuous populations (Austria and Norway) and also to the historical Dutch population. However, using a bottleneck test on each population, signs of heterozygosity excess were only found in the likewise isolated English population despite that strong genetic drift was evident in the present Dutch population in comparison to the reference populations, as assessed both in pairwise F-ST and STRUCTURE analyses. Simulating the effect of a population reduction on the Dutch population from 1948 onwards, using census data and with the Dutch museum samples as a model for the genetic diversity in the initial population, revealed that the loss in number of alleles and observed heterozygosity was according to genetic drift expectations and within the standard error range of the present Dutch population. Thus, the effect of the strong decline in the number of grouse on genetic diversity was only detectable when using a reference from the past. The lack of evidence for a population reduction in the present Dutch population by using the program BOTTLENECK was attributed to a rapidly found new equilibrium as a consequence of a very small effective population size.
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| 3. |
- Siltanen, Sanna, et al.
(författare)
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ARLTS1 germline variants and the risk for breast, prostate, and colorectal cancer
- 2008
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 16:8, s. 983-91
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Tidskriftsartikel (refereegranskat)abstract
- Recently, a nonsense alteration Trp149Stop in the ARLTS1 gene was found more frequently in familial cancer cases versus sporadic cancer patients and healthy controls. Here, the role of Trp149Stop or any other ARLTS1 germline variant was evaluated on breast, prostate, and colorectal cancer risk. The whole gene was screened for germline alterations in 855 familial cancer patients. The five observed variants were further screened in 1169 non-familial cancer patients as well as in 809 healthy population controls. The Trp149Stop was found at low frequencies (0.5-1.2%) in all patient subgroups versus 1.6% in controls, and the mutant allele did not co-segregate with disease status in families with multiple affected individuals. The CC genotype in the Cys148Arg variant was slightly more common among both familial and sporadic breast (odds ratio (OR), 1.48; 95% confidence interval (CI), 1.16-1.87; P=0.001) and prostate cancer patients (OR, 1.50; 95% CI, 1.13-1.99; P=0.005) when compared to controls. A novel ARLTS1 variant Gly65Val was found at higher frequency among familial prostate cancer patients (8 of 164, 4.9%) than in controls (13 of 809, 1.6%; OR, 3.14; 95% CI, 1.28-7.70, P=0.016). However, after adjusting for multiple testing, none of these results were still significant. No association was found with any of the variants and colorectal cancer risk. Our results suggest that Trp149Stop is not a predisposition allele in breast, prostate, or colorectal cancer in the Finnish population, and, while the Gly65Val variant may increase familial prostate cancer risk and the Cys148Arg change may affect both breast and prostate cancer risk, the evidence is not strong in these data.
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| 4. |
- Aidas, Kestutis, et al.
(författare)
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On the performance of quantum chemical methods to predict solvatochromic effects: The case of acrolein in aqueous solution.
- 2008
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Ingår i: Journal of Chemical Physics. - : AIP Publishing. - 0021-9606 .- 1089-7690. ; 128:19, s. 1-194503
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Tidskriftsartikel (refereegranskat)abstract
- The performance of the Hartree-Fock method and the three density functionals B3LYP, PBE0, and CAM-B3LYP is compared to results based on the coupled cluster singles and doubles model in predictions of the solvatochromic effects on the vertical n-->pi(*) and pi-->pi(*) electronic excitation energies of acrolein. All electronic structure methods employed the same solvent model, which is based on the combined quantum mechanics/molecular mechanics approach together with a dynamical averaging scheme. In addition to the predicted solvatochromic effects, we have also performed spectroscopic UV measurements of acrolein in vapor phase and aqueous solution. The gas-to-aqueous solution shift of the n-->pi(*) excitation energy is well reproduced by using all density functional methods considered. However, the B3LYP and PBE0 functionals completely fail to describe the pi-->pi(*) electronic transition in solution, whereas the recent CAM-B3LYP functional performs well also in this case. The pi-->pi(*) excitation energy of acrolein in water solution is found to be very dependent on intermolecular induction and nonelectrostatic interactions. The computed excitation energies of acrolein in vacuum and solution compare well to experimental data.
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| 6. |
- Harley, John B., et al.
(författare)
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Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci
- 2008
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 40:2, s. 204-10
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Tidskriftsartikel (refereegranskat)abstract
- Systemic lupus erythematosus (SLE) is a common systemic autoimmune disease with complex etiology but strong clustering in families (lambda(S) = approximately 30). We performed a genome-wide association scan using 317,501 SNPs in 720 women of European ancestry with SLE and in 2,337 controls, and we genotyped consistently associated SNPs in two additional independent sample sets totaling 1,846 affected women and 1,825 controls. Aside from the expected strong association between SLE and the HLA region on chromosome 6p21 and the previously confirmed non-HLA locus IRF5 on chromosome 7q32, we found evidence of association with replication (1.1 x 10(-7) < P(overall) < 1.6 x 10(-23); odds ratio = 0.82-1.62) in four regions: 16p11.2 (ITGAM), 11p15.5 (KIAA1542), 3p14.3 (PXK) and 1q25.1 (rs10798269). We also found evidence for association (P < 1 x 10(-5)) at FCGR2A, PTPN22 and STAT4, regions previously associated with SLE and other autoimmune diseases, as well as at > or =9 other loci (P < 2 x 10(-7)). Our results show that numerous genes, some with known immune-related functions, predispose to SLE.
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| 7. |
- Jacobsen, Jens Christian Brings, et al.
(författare)
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Heterogeneity and weak coupling may explain the synchronization characteristics of cells in the arterial wall.
- 2008
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Ingår i: Philosophical transactions. Series A, Mathematical, physical, and engineering sciences. - : The Royal Society. - 1364-503X. ; 366:1880, s. 3483-502
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Tidskriftsartikel (refereegranskat)abstract
- Vascular smooth muscle cells (SMCs) exhibit different types of calcium dynamics. Static vascular tone is associated with unsynchronized calcium waves and the developed force depends on the number of recruited cells. Global calcium transients synchronized among a large number of cells cause rhythmic development of force known as vasomotion. We present experimental data showing a considerable heterogeneity in cellular calcium dynamics in the vascular wall. In stimulated vessels, some SMCs remain quiescent, whereas others display waves of variable frequency. At the onset of vasomotion, all SMCs are enrolled into synchronized oscillation.Simulations of coupled SMCs show that the experimentally observed cellular recruitment, the presence of quiescent cells and the variation in oscillation frequency may arise if the cell population is phenotypically heterogeneous. In this case, quiescent cells can be entrained at the onset of vasomotion by the collective driving force from the synchronized oscillations in the membrane potential of the surrounding cells. Partial synchronization arises with an increase in the concentration of cyclic guanosine monophosphate, but in a heterogeneous cell population complete synchronization also requires a high-conductance pathway that provides strong coupling between the cells.
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| 8. |
- Koefoed-Nielsen, Jacob, et al.
(författare)
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Alveolar recruitment can be predicted from airway pressure-lung volume loops : an experimental study in a porcine acute lung injury model
- 2008
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Ingår i: Critical Care. - : Springer Science and Business Media LLC. - 1364-8535 .- 1466-609X. ; 12:1, s. R7-
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Tidskriftsartikel (refereegranskat)abstract
- INTRODUCTION: Simple methods to predict the effect of lung recruitment maneuvers (LRMs) in acute lung injury (ALI) and acute respiratory distress syndrome (ARDS) are lacking. It has previously been found that a static pressure-volume (PV) loop could indicate the increase in lung volume induced by positive end-expiratory pressure (PEEP) in ARDS. The purpose of this study was to test the hypothesis that in ALI (1) the difference in lung volume (DeltaV) at a specific airway pressure (10 cmH2O was chosen in this test) obtained from the limbs of a PV loop agree with the increase in end-expiratory lung volume (DeltaEELV) by an LRM at a specific PEEP (10 cmH2O), and (2) the maximal relative vertical (volume) difference between the limbs (maximal hysteresis/total lung capacity (MH/TLC)) could predict the changes in respiratory compliance (Crs), EELV and partial pressures of arterial O2 and CO2 (PaO2 and PaCO2, respectively) by an LRM. METHODS: In eight ventilated pigs PV loops were obtained (1) before lung injury, (2) after lung injury induced by lung lavage, and (3) after additional injurious ventilation. DeltaV and MH/TLC were determined from the PV loops. At all stages Crs, EELV, PaCO2 and PaO2 were registered at 0 cmH2O and at 10 cmH2O before and after LRM, and DeltaEELV was calculated. Statistics: Wilcoxon's signed rank, Pearson's product moment correlation, Bland-Altman plot, and receiver operating characteristics curve. Medians and 25th and 75th centiles are reported. RESULTS: DeltaV was 270 (220, 320) ml and DeltaEELV was 227 (177, 306) ml (P < 0.047). The bias was 39 ml and the limits of agreement were - 49 ml to +127 ml. The R2 for relative changes in EELV, Crs, PaCO2 and PaO2 against MH/TLC were 0.55, 0.57, 0.36 and 0.05, respectively. The sensitivity and specificity for MH/TLC of 0.3 to predict improvement (>75th centile of what was found in uninjured lungs) were for EELV 1.0 and 0.85, Crs 0.88 and 1.0, PaCO2 0.78 and 0.60, and PaO2 1.0 and 0.69. CONCLUSION: A PV-loop-derived parameter, MH/TLC of 0.3, predicted changes in lung mechanics better than changes in gas exchange in this lung injury model.
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| 9. |
- Konrad-Schmolke, Matthias, 1970, et al.
(författare)
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Combined thermodynamic and rare earth element modelling of garnet growth during subduction: Examples from ultrahigh-pressure eclogite of the Western Gneiss Region, Norway
- 2008
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Ingår i: Earth and Planetary Science Letters. - 0012-821X. ; 272:1-2, s. 488-498
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Tidskriftsartikel (refereegranskat)abstract
- Major and trace element zonation patterns were determined in ultrahigh-pressure eclogite garnets from the Western Gneiss Region (Norway). All investigated garnets show Multiple growth zones and preserve complex growth zonation patterns with respect to both major and rare earth elements (REE). Due to chemical differences of the host rocks two types of major element compositional zonation patterns occur: (1) abrupt, step-like compositional changes corresponding with the growth zones and (2) compositionally homogeneous interiors, independent of growth zones, followed by abrupt chemical changes towards the rims. Despite differences in major element zonation, the REE patterns are almost identical in all garnets and can be divided into four distinct zones with characteristic patterns. In order to interpret the major and trace element distribution and zoning patterns in terms of the subduction history of the rocks, we combined thermodynamic forward models for appropriate bulk rock compositions to yield molar proportions and major element compositions of stable phases along the inferred pressure-temperature path with a mass balance distribution of REEs among the calculated stable phases during high pressure metamorphism. Our thermodynamic forward models reproduce the complex major element zonation patterns and growth zones in the natural garnets, with garnet growth predicted during four different reaction stages: (1) chlorite breakdown, (2) epidote breakdown, (3) amphibole breakdown and (4) reduction in molar clinopyroxene at ultrahigh-pressure conditions. Mass-balance of the rare earth element distribution among the modelled stable phases yielded characteristic zonation patterns in garnet that closely resemble those in the natural samples. Garnet growth and trace element incorporation Occurred in near thermodynamic equilibrium with matrix phases during subduction. The rare earth element patterns in garnet exhibit distinct enrichment zones that fingerprint the minerals involved in the garnet-forming reactions as well as local peaks that can be explained by fractionation effects and changes in the mineral assemblage. (C) 2008 Elsevier B.V. All rights reserved.
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