| 1. |
- Clark, Andrew G., et al.
(författare)
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Evolution of genes and genomes on the Drosophila phylogeny
- 2007
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 450:7167, s. 203-218
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Tidskriftsartikel (refereegranskat)abstract
- Comparative analysis of multiple genomes in a phylogenetic framework dramatically improves the precision and sensitivity of evolutionary inference, producing more robust results than single-genome analyses can provide. The genomes of 12 Drosophila species, ten of which are presented here for the first time (sechellia, simulans, yakuba, erecta, ananassae, persimilis, willistoni, mojavensis, virilis and grimshawi), illustrate how rates and patterns of sequence divergence across taxa can illuminate evolutionary processes on a genomic scale. These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution. Despite remarkable similarities among these Drosophila species, we identified many putatively non-neutral changes in protein-coding genes, non-coding RNA genes, and cis-regulatory regions. These may prove to underlie differences in the ecology and behaviour of these diverse species.
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| 2. |
- MacKenzie, Robert, Professor, et al.
(författare)
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‘All that is Solid?’ : Class, Identity and the Maintenance of a Collective Orientation amongst Redundant Steel Workers
- 2006
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Ingår i: Sociology. - : Sage Publications. - 0038-0385 .- 1469-8684. ; 40:5, s. 833-852
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Tidskriftsartikel (refereegranskat)abstract
- This paper explores the importance of class andcollectivism to personal identity, and the role this played during a period ofpersonal and collective crisis created by mass redundancy in the Welsh steelindustry. The research findings demonstrate the importance of occupationalidentity to individual and collective identity formation. The apparent desireto maintain this collective identity acted as a form of resistance to theincreased individualisation of the post-redundancy experience, but rather thanleading to excessive particularism, it served as mechanism through which classbased thinking and class identity were articulated. It is argued that thecontinued concern for class identity reflected efforts to avoid submergence inan existence akin to Beck’s (1992) vision of a class-free ‘individualisedsociety of employees’. These findings therefore challenge the notion of thepervasiveness of individualism and the dismissal of class and collectiveorientations as important influences on identity formation.
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| 3. |
- Chioza, Barry A., et al.
(författare)
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Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14
- 2009
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Ingår i: Epilepsy Research. - : Elsevier BV. - 0920-1211 .- 1872-6844. ; 87:2-3, s. 247-255
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Tidskriftsartikel (refereegranskat)abstract
- Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is well recognised but the mechanism of inheritance and the genes involved are yet to be fully established. A genome wide single nucleotide polymorphism (SNP)-based high density linkage scan was carried out using 41 nuclear pedigrees with at least two affected members. Multipoint parametric and non-parametric linkage analyses were performed using MERLIN 1.1.1 and a susceptibility locus was identified on chromosome 3p23-p14 (Z(mean)=3.9, p<0.0001; HLOD=3.3, alpha=0.7). The linked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1.
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| 4. |
- Everett, Kate, et al.
(författare)
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Linkage and mutational analysis of CLCN2 in childhood absence epilepsy
- 2007
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Ingår i: Epilepsy Research. - : Elsevier BV. - 0920-1211 .- 1872-6844. ; 75:2-3, s. 145-153
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Tidskriftsartikel (refereegranskat)abstract
- In order to assess the chloride channel gene CLCN2 as a candidate susceptibility gene for childhood absence epilepsy, parametric and non-parametric linkage analysis was performed in 65 nuclear pedigrees. This provided suggestive evidence for linkage with heterogeneity: NPL score=2.3, p<0.009; HLOD=1.5, α=0.44. Mutational analysis of the entire genomic sequence of CLCN2 was performed in 24 unrelated patients from pedigrees consistent with linkage, identifying 45 sequence variants including the known non-synonymous polymorphism rs2228292 (G2154C, Glu718Asp) and a novel variant IVS4+12G>A. Intra-familial association analysis using the pedigrees and a further 308 parent–child trios showed suggestive evidence for transmission disequilibrium of the G2154C minor allele: AVE-PDT , p<0.03. Case–control analysis provided evidence for a protective effect of the IVS4+12G>A minor allele: , p<0.008. The 65 nuclear pedigrees were screened for three previously identified mutations shown to segregate with a variety of idiopathic generalised epilepsy phenotypes (597insG, IVS2-14del11 and G2144A) but none were found. We conclude that CLCN2 may be a susceptibility locus in a subset of cases of childhood absence epilepsy.
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| 5. |
- Gardiner, Jean, et al.
(författare)
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Redundancy as a critical life event : Moving on from the Welsh steel industry through career change
- 2009
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Ingår i: Work, Employment and Society. - : Sage Publications. - 0950-0170 .- 1469-8722. ; 23:4, s. 727-745
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Tidskriftsartikel (refereegranskat)abstract
- This article investigates the process of moving on from redundancy in the Welsh steel industry among individuals seeking new careers. It identifies a spectrum of career change experience, ranging from those who had actively planned their career change, prior to the redundancies, to those ’at a career crossroads’, for whom there were tensions between future projects, present contingencies and past identities. It suggests that the process of moving on from redundancy can be better understood if we are able to identify, not just structural and cultural enablers and constraints but also the temporal dimensions of agency that facilitate or limit transformative action in the context of critical life events. Where individuals are located on the spectrum of career change experience will depend on the balance of enabling and constraining factors across the four aspects considered, namely temporal dimensions of agency, individuals’ biographical experience, structural and cultural contexts.
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| 6. |
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