| 1. |
- Maier, Jürgen, et al.
(författare)
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This time it's different? : Effects of the Eurovision Debate on young citizens and its consequence for EU democracy - evidence from a quasi-experiment in 24 countries
- 2018
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Ingår i: Journal of European Public Policy. - : Informa UK Limited. - 1350-1763 .- 1466-4429. ; 25:4, s. 606-629
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Tidskriftsartikel (refereegranskat)abstract
- For the very first time in EU history, the 2014 EP elections provided citizens with the opportunity to influence the nomination of the Commission President by casting a vote for the main Europarties’ ‘lead candidates’. By subjecting the position of the Commission President to an open political contest, many experts have formulated the expectation that heightened political competition would strengthen the weak electoral connection between EU citizens and EU legislators, which some consider a root cause for the EU’s lack of public support. In particular, this contest was on display in the so-called ‘Eurovision Debate’, a televised debate between the main contenders for the Commission President broadcasted live across Europe. Drawing on a quasi-experimental study conducted in 24 EU countries, we find that debate exposure led to increased cognitive and political involvement and EU support among young citizens. Unfortunately, the debate has only reached a very small audience.
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| 2. |
- Pangrazio, Alessandra, et al.
(författare)
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SNX10 mutations define a subgroup of human Autosomal Recessive Osteopetrosis with variable clinical severity.
- 2013
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Ingår i: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. - : Wiley. - 1523-4681. ; 28:5, s. 1041-9
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Tidskriftsartikel (refereegranskat)abstract
- Human Autosomal Recessive Osteopetrosis (ARO) is a genetically heterogeneous disorder caused by reduced bone resorption by osteoclasts. In 2000, we found that mutations in TCIRG1 gene encoding for a subunit of the proton pump (V-ATPase) are responsible for more than half of ARO cases. Afterwards, five additional genes have been demonstrated to be involved in the pathogenesis of the disease, leaving approximately 25% of cases that could not be associated with a genotype. Very recently, a mutation in the Sorting Nexin 10 (SNX10) gene, whose product is suggested to interact with the proton pump, has been found in three consanguineous families of Palestinian origin, thus adding a new candidate gene in patients not previously classified. Here we report the identification of 9 novel mutations in this gene in 14 ARO patients from 12 unrelated families of different geographic origin. Interestingly, we define the molecular defect in 3 cases of "Västerbottenian osteopetrosis", named for the Swedish Province where a higher incidence of the disease has been reported. In our cohort of more than 310 patients from all over the world, SNX10-dependent ARO constitutes 4% of the cases, with a frequency comparable to the RANKL, RANK and OSTM1-dependent subsets. Although the clinical presentation is relatively variable in severity, bone seems to be the only affected tissue and the defect can be almost completely rescued by Hematopoietic Stem Cell Transplantation (HSCT). These results confirm the involvement of SNX10 gene in human ARO and identify a new subset with a relatively favorable prognosis as compared to TCIRG1-dependent cases. Further analyses will help to better understand SNX10 role in osteoclast physiology and verify whether this protein might be considered a new target for selective anti-resorptive therapies. © 2012 American Society for Bone and Mineral Research.
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| 3. |
- Pettersson, Ulrika, et al.
(författare)
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Polymorphisms of the CLCN7 gene are associated with BMD in women.
- 2005
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Ingår i: Journal of Bone and Mineral Research. - 0884-0431 .- 1523-4681. ; 20:11, s. 1960-7
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Tidskriftsartikel (refereegranskat)abstract
- UNLABELLED: Here we show that a common polymorphism causing a valine to methionine amino acid substitution at codon 418 (V418M) in the CLCN7 gene is associated with femoral neck BMD in women. Our study adds to accumulating evidence that shows that common allelic variants in monogenic bone disease genes often contribute to BMD regulation in normal subjects. INTRODUCTION: The CLCN7 gene is a strong candidate for regulation of BMD, because mutations in CLCN7 cause some forms of osteopetrosis, a disease characterized by impaired osteoclast function and increased BMD. In this study, we sought to determine whether common allelic variation within CLCN7 was associated with BMD in the normal population. MATERIALS AND METHODS: We conducted mutation screening of the exons and intron-exon boundaries in CLCN7 by DNA sequencing in 50 normal subjects. We conducted an association study between common polymorphisms in CLCN7 and haplotypes defined by these polymorphisms and BMD values at the lumbar spine and femoral neck in a population-based cohort study of 1077 Scottish women 45-55 years of age. RESULTS: We identified 24 polymorphisms, but most were rare and only 4 had allele frequencies of >5%. These were a conservative single nucleotide polymorphism (SNP) in exon 1 (rs3751884), a 50-bp tandem repeat polymorphism within intron 8, and two SNPs within exon 15 (rs12926089 and rs12926669), of which one (rs12926669) predicts an amino acid change from valine to methionine at codon 418 (V418M). The exon 15 SNPs were in strong linkage disequilibrium and were both associated with femoral neck BMD (p = 0.001-0.003). None of the other polymorphisms were associated with BMD, and long-range haplotypes showed a much weaker association with BMD than the exon 15 SNPs. The V418M polymorphism was an independent predictor of femoral neck BMD on multiple regression analysis accounting for 1% of the variance in BMD at this site. CONCLUSIONS: Our study indicates that the V418M polymorphism of CLCN7 contributes to the genetic regulation of femoral neck BMD in women and adds to accumulating evidence that indicates that subtle polymorphic variation in genes that cause monogenic bone diseases also contribute to regulation of BMD in normal subjects.
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