| 1. |
|
|
| 2. |
- Szatmari, Peter, et al.
(författare)
-
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
- 2007
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:3, s. 319-328
-
Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,168 families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
|
|
| 3. |
- Amundadottir, Laufey, et al.
(författare)
-
Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer.
- 2009
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 41, s. 986-990
-
Tidskriftsartikel (refereegranskat)abstract
- We conducted a two-stage genome-wide association study of pancreatic cancer, a cancer with one of the lowest survival rates worldwide. We genotyped 558,542 SNPs in 1,896 individuals with pancreatic cancer and 1,939 controls drawn from 12 prospective cohorts plus one hospital-based case-control study. We conducted a combined analysis of these groups plus an additional 2,457 affected individuals and 2,654 controls from eight case-control studies, adjusting for study, sex, ancestry and five principal components. We identified an association between a locus on 9q34 and pancreatic cancer marked by the SNP rs505922 (combined P = 5.37 x 10(-8); multiplicative per-allele odds ratio 1.20; 95% confidence interval 1.12-1.28). This SNP maps to the first intron of the ABO blood group gene. Our results are consistent with earlier epidemiologic evidence suggesting that people with blood group O may have a lower risk of pancreatic cancer than those with groups A or B.
|
|
| 4. |
- Ruzzante, D. E., et al.
(författare)
-
Biocomplexity in a highly migratory pelagic marine fish, Atlantic herring
- 2006
-
Ingår i: Proceedings of the Royal Society B-Biological Sciences. - : The Royal Society. - 0962-8452 .- 1471-2954. ; 273:1593, s. 1459-1464
-
Tidskriftsartikel (refereegranskat)abstract
- The existence of biologically differentiated populations has been credited with a major role in conferring sustainability and in buffering overall productivity of anadromous fish population complexes where evidence for spatial structure is uncontroversial. Here, we describe evidence of correlated genetic and life history (spawning season linked to spawning location) differentiation in an abundant and highly migratory pelagic fish, Atlantic herring, Clupea harengus, in the North Sea (NS) and adjacent areas. The existence of genetically and phenotypically diverse stocks in this region despite intense seasonal mixing strongly implicates natal homing in this species. Based on information from genetic markers and otolith morphology, we estimate the proportional contribution by NS, Skagerrak (SKG) and Kattegat and western Baltic (WBS) fish to mixed aggregations targeted by the NS fishery. We use these estimates to identify spatial and temporal differences in life history (migratory behaviour) and habitat use among genetically differentiated migratory populations that mix seasonally. Our study suggests the existence of more complex patterns of intraspecific diversity than was previously recognized. Sustainability may be compromised if such complex patterns are reduced through generalized management (e.g. area closures) that overlooks population differences in spatial use throughout the life cycle.
|
|
| 5. |
|
|
| 6. |
|
|
| 7. |
- Safi-Naqvi, S.H., et al.
(författare)
-
Texture and mechanical anisotropy in three extruded magnesium alloys
- 2008
-
Ingår i: Materials Science and Technology. - 0267-0836 .- 1743-2847. ; 24:10, s. 1283-1292
-
Tidskriftsartikel (refereegranskat)abstract
- One ZM61 alloy (6·2%Zn, 1·2%Mn) and two magnesium alloys containing nominally 3% of neodymium and yttrium respectively have been prepared in the form of hot extruded flat strips. Their textures and microstructures have been quantified and series of mechanical tests were carried out to determine plane stress yield loci in both the solution treated and aged conditions. The ZM61 alloy had a sharp texture and marked anisotropy of strength that could be rationalised in terms of deformation by basal 〈a〉 slip and {101̄2}〈1011〉 twinning. This material was much weaker in compression than in tension. Precipitation hardening on aging caused a greater impedance to twinning than to slip with the result that the anisotropy was somewhat reduced. The Mg-3Nd alloy had a very weak and different texture but nevertheless demonstrated a pronounced anisotropy of strength. Aging increased the yield stress by about 80% and also inhibited twinning to some extent although the degree of anisotropy remained almost unaffected. The Mg-3Y alloy which showed a texture of intermediate strength was different in type from either of the others. Its strength behaviour was close to isotropic; in particular, no difference existed between tensile and compressive loading, and aging produced only a marginal increase in strength. Twins were relatively infrequent in the deformed Mg-3Y alloy but its mechanical behaviour could not be rationalised according to simple models. © 2008 Institute of Materials, Minerals and Mining.
|
|
