| 1. |
- Bondeson, Marie-Louise, et al.
(author)
-
Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin
- 2006
-
In: Acta Dermato-Venereologica. - : Medical Journals Sweden AB. - 0001-5555 .- 1651-2057. ; 86:6, s. 503-508
-
Journal article (peer-reviewed)abstract
- Neuroectodermal syndromes involving the skin and inner ear may be associated with mutations in connexin proteins, which form gap junctions important for intercellular communication. Vohwinkel syndrome (keratodermia mutilans with hearing loss) and keratitis-ichthyosis-deafness (KID) syndrome are rare ectodermal dysplasias associated with dominant mutations in the GJB2 gene encoding connexin 26. We report here two patients, one with KID and one with Vohwinkel syndrome. Both displayed unusual clinical features and responded well to long-term treatment with oral retinoid. Mutation analysis revealed a novel GJB2 mutation p.Gly59Ser in the patient with Vohwinkel syndrome, whereas a recurrent mutation (p.Asp50Asn) was found in the patient with KID syndrome. The clinical features, particularly a proneness to skin cancer in the patient with Vohwinkel syndrome, are discussed in relation to the identified genotypes.
|
|
| 2. |
- Bradley, Karin, et al.
(author)
-
Exploring environmental justice in Sweden : How to improve planning for environmental sustainability and social equity in an “eco-friendly” context
- 2008
-
In: Projections. - 1934-9688 .- 1934-9696. ; 8, s. 68-81
-
Journal article (peer-reviewed)abstract
- Environmental challenges, especially climate change, are highly discussed topics in the Swedish public debate, but questions about who is causing the problems and who is affected by them are seldom asked. This also applies to questions of who defines what should be regarded as acute environmental problems and what constitutes high-quality environments. This paper explores how environmental (in)justice issues can be framed in a Swedish social context, drawing from three cases: municipal promotion of eco-friendly lifestyles, large-scale infrastructure planning, and planners’ attitudes towards justice. The three cases deal not only with distributional, procedural, and substantive aspects of justice, as is common within the US environmental justice framework, but also with discursive dimensions of justice. We argue that elucidating such examples of environmental (in)justices is crucial to nuance the mainstream, consensus-oriented sustainability discourse in Sweden.
|
|
| 3. |
- Bradley, Karin, 1975-, et al.
(author)
-
Miljörättvisa : ett nytt perspektiv i svensk planering
- 2007
-
In: PLAN – Tidskrift för Samhällplanering. - 0032-0560. ; 3
-
Journal article (pop. science, debate, etc.)abstract
- Den senaste tiden har miljö- och klimatfrågor varit ett hett ämne i samhällsdebatten. Framförallt diskuteras hur växthuseffekten kan hanteras och hur system för utsläppsrätter bäst organiseras. Sällan ställs frågor om vilka som orsakar miljöproblem och vilka som drabbas av dem. Och vem som definierar vad som betraktas som akuta miljöproblem. Detta är frågor som uppmärksammas i forskning om miljörättvisa – ett fält på frammarsch i Sverige.
|
|
| 4. |
- Burman, Monica, 1962-
(author)
-
Straffrätt och mäns våld mot kvinnor : Om straffrättens förmåga att producera jämställdhet
- 2007
-
Doctoral thesis (other academic/artistic)abstract
- Men’s physical and psychological violence against women in intimate relationships is a serious social problem and contravenes the political goal of gender equality. Over the last few decades men’s violence against women has become a central issue in Swedish gender equality politics. Criminal law reforms have been carried through with the objective of enhancing criminal legal protection for women and promoting gender equality. The starting point of this thesis, however, is that the ability of criminal law to promote gender equality must be questioned. Instead criminal law is at risk of producing and reproducing hindrances to gender equality and criminal legal protection for women. It is such processes in criminal law that are explored and analysed in this thesis, inspired by feminist legal theory and social constructionist theory, and through the application of discourse analysis. The main purpose of the thesis is to explore and analyze how violence, perpetrator and victim are constructed in the criminal legal discourse of men’s physical and psychological violence against women in intimate relationships and what legal or social consequences these constructions might have. A second aim of the thesis is to throw a light on and analyze two major criminal legal aspects of men’s physical and psychological violence against women in intimate relationships. Firstly, how criminal law deals with issues of responsibility for the violence. Secondly, how questions about the use of criminal law are linked to possibilities and problems from a crime victim-perspective. The analysis indicates two major problem areas. In the first, the victim is treated in relation to stereotypical conceptions of women exposed to violence. A male-gendered discourse on responsibility limits the possibilities for women to behave as actors in relation to men and still being offered the subject position of victim. In addition, a focus on questions such as “Why doesn’t she leave?” and “Why doesn’t she cooperate with the criminal justice system?” produces an understanding of the main problem of violence as being related to the victim. The second problem area concerns a tension between how criminal legal reforms, aimed at enhancing criminal legal protection for women and promoting gender equality, have been justified by the legislator and how mainstream criminal legal scholarship argues in the issue of use of criminal law.
|
|
| 5. |
- Eriksson, Jonas, et al.
(author)
-
Identification of the yellow skin gene reveals a hybrid origin of the domestic chicken
- 2008
-
In: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 4:2, s. e1000010-
-
Journal article (peer-reviewed)abstract
- Yellow skin is an abundant phenotype among domestic chickens and is caused by a recessive allele (W*Y) that allows deposition of yellow carotenoids in the skin. Here we show that yellow skin is caused by one or more cis-acting and tissue-specific regulatory mutation(s) that inhibit expression of BCDO2 (beta-carotene dioxygenase 2) in skin. Our data imply that carotenoids are taken up from the circulation in both genotypes but are degraded by BCDO2 in skin from animals carrying the white skin allele (W*W). Surprisingly, our results demonstrate that yellow skin does not originate from the red junglefowl (Gallus gallus), the presumed sole wild ancestor of the domestic chicken, but most likely from the closely related grey junglefowl (Gallus sonneratii). This is the first conclusive evidence for a hybrid origin of the domestic chicken, and it has important implications for our views of the domestication process.
|
|
| 6. |
- Gunnarsson, Rebeqa, et al.
(author)
-
Screening for copy-number alterations and loss of heterozygosity in chronic lymphocytic leukemia-A comparative study of four differently designed, high resolution microarray platforms
- 2008
-
In: Genes, Chromosomes and Cancer. - : Wiley. - 1045-2257 .- 1098-2264. ; 93, s. 0536-0536
-
Journal article (peer-reviewed)abstract
- Screening for gene copy-number alterations (CNAs) has improved by applying genome-wide microarrays, where SNP arrays also allow analysis of loss of heterozygozity (LOH). We here analyzed 10 chronic lymphocytic leukemia (CLL) samples using four different high-resolution platforms: BAC arrays (32K), oligonucleotide arrays (185K, Agilent), and two SNP arrays (250K, Affymetrix and 317K, Illumina). Cross-platform comparison revealed 29 concordantly detected CNAs, including known recurrent alterations, which confirmed that all platforms are powerful tools when screening for large aberrations. However, detection of 32 additional regions present in 2-3 platforms illustrated a discrepancy in detection of small CNAs, which often involved reported copy-number variations. LOH analysis using dChip revealed concordance of mainly large regions, but showed numerous, small nonoverlapping regions and LOH escaping detection. Evaluation of baseline variation and copy-number ratio response showed the best performance for the Agilent platform and confirmed the robustness of BAC arrays. Accordingly, these platforms demonstrated a higher degree of platform-specific CNAs. The SNP arrays displayed higher technical variation, although this was compensated by high density of elements. Affymetrix detected a higher degree of CNAs compared to Illumina, while the latter showed a lower noise level and higher detection rate in the LOH analysis. Large-scale studies of genomic aberrations are now feasible, but new tools for LOH analysis are requested.
|
|
| 7. |
- Gunnarsson, Ulrika
(author)
-
Genetic Studies of Pigmentation in Chicken
- 2009
-
Doctoral thesis (other academic/artistic)abstract
- Domestic animals have been selected by humans for thousands of years, which have drastically altered their genetic constitution and phenotypes. In this thesis, several of the most important genes causing pigmentation differences between the wild red junglefowl (Gallus gallus) and domestic chickens have been identified. Pigmentation phenotypes are easily scored, and the genes underlying these phenotypes are valuable models to study gene function and gene interaction. Dominant white colour is widespread among domestic chickens. The Dominant white allele specifically inhibits the expression of black (eumelanin) pigment and we identified several insertion/deletion mutations in the PMEL17 gene causing the different phenotypes controlled by this locus. The Silver allele on the other hand inhibits the expression of red (pheomelanin) colour and is a genetic variant of the SLC45A2 gene. Silver is the first pheomelanin-specific mutation(s) reported for this gene. An 8 kb deletion, including a conserved enhancer element, 14 kb upstream of the transcription factor SOX10 is causing the Dark brown phenotype. This phenotype restricts the expression of eumelanin and enhances red pheomelanin in specific parts of the plumage. These three gene identifications have extended the knowledge about genes affecting melanocyte function. Carotenoid-based pigmentation is of utmost importance in birds and other animals. The yellow skin allele in chicken allows deposition of carotenoids in skin and explains why most domestic chickens have yellow legs. We demonstrated that the yellow skin phenotype is caused by a tissue specific regulatory mutation in the gene for the enzyme beta-caroten dioxygenase 2 (BCDO2). This was the first identification of a specific gene underlying carotenoid-based pigmentation. Interestingly, the yellow skin haplotype was shown to originate from the grey junglefowl (Gallus sonneratii) and not the red junglefowl as expected, thus presenting the first conclusive evidence for a hybrid origin of the domestic chicken.
|
|
| 8. |
- Gunnarsson, Ulrika, et al.
(author)
-
Mutations in SLC45A2 Cause Plumage Color Variation in Chicken and Japanese Quail
- 2007
-
In: Genetics. - : Oxford University Press (OUP). - 0016-6731 .- 1943-2631. ; 175:2, s. 867-877
-
Journal article (peer-reviewed)abstract
- S*S (Silver), S*N (wild type/gold), and S*AL (sex-linked imperfect albinism) form a series of alleles at the S (Silver) locus on chicken (Gallus gallus) chromosome Z. Similarly, sex-linked imperfect albinism (AL*A) is the bottom recessive allele at the orthologous AL locus in Japanese quail (Coturnix japonica). The solute carrier family 45, member 2, protein (SLC45A2), previously denoted membrane-associated transporter protein (MATP), has an important role in vesicle sorting in the melanocytes. Here we report five SLC45A2 mutations. The 106delT mutation in the chicken S*AL allele results in a frameshift and a premature stop codon and the corresponding mRNA appears to be degraded by nonsense-mediated mRNA decay. A splice-site mutation in the Japanese quail AL*A allele causes in-frame skipping of exon 4. Two independent missense mutations (Tyr277Cys and Leu347Met) were associated with the Silver allele in chicken. The functional significance of the former mutation, associated only with Silver in White Leghorn, is unclear. Ala72Asp was associated with the cinnamon allele (AL*C) in the Japanese quail. The most interesting feature concerning the SLC45A2 variants documented in this study is the specific inhibition of expression of red pheomelanin in Silver chickens. This phenotypic effect cannot be explained on the basis of the current, incomplete, understanding of SLC45A2 function. It is an enigma why recessive null mutations at this locus cause an almost complete absence of both eumelanin and pheomelanin whereas some missense mutations are dominant and cause a specific inhibition of pheomelanin production.
|
|
| 9. |
|
|
| 10. |
- Gunnarsson-Östling, Ulrika, 1977-, et al.
(author)
-
Climate change scenarios and behavioural change : Navigating between heuristics of deliberative planning processes and astroturfing
- 2008
-
Conference paper (other academic/artistic)abstract
- In constructing normative scenarios images of the future are generated illustrating potential ways of living, travelling and consuming products and services where certain goals such as a reduced climate impact are fulfilled (Börjeson et al, 2006; Myers and Kitsuse, 2000). This paper analyses the sustainability framing of behavioural changes in such normative scenarios (Larsen and Höjer, 2007) and how it relates to the participatory processes used to generate the scenarios. We discuss this building on concepts of deliberative planning processes as a means to achieve legitimate, effective and sustainable futures (Connelly and Richardson, forthcoming; Hendriks et al., 2007). The theoretical arguments are combined with examples from environmental scenario construction in practice (Carlsson-Kanyama et al., 2003, Dreborg et al., forthcoming). This illustrates fields of tension arising when either sustainability or process values are veneering goals of a scenario making process. When focus is on content values such as reduced climate impact, the process values might be depreciated. On the other hand, when focus is on process values such as legitimacy, content sustainability and possibilities for actual change might be downgraded.
|
|
