| 1. |
- Keller, Annika, et al.
(author)
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Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
- 2013
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:9, s. 1077-
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Journal article (peer-reviewed)abstract
- Calcifications in the basal ganglia are a common incidental finding and are sometimes inherited as an autosomal dominant trait ( idiopathic basal ganglia calcification (IBGC)). Recently, mutations in the PDGFRB gene coding for the platelet-derived growth factor receptor beta (PDGF-R beta) were linked to IBGC. Here we identify six families of different ancestry with nonsense and missense mutations in the gene encoding PDGF-B, the main ligand for PDGF-R beta. We also show that mice carrying hypomorphic Pdgfb alleles develop brain calcifications that show age-related expansion. The occurrence of these calcium depositions depends on the loss of endothelial PDGF-B and correlates with the degree of pericyte and blood-brain barrier deficiency. Thus, our data present a clear link between Pdgfb mutations and brain calcifications in mice, as well as between PDGFB mutations and IBGC in humans.
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| 2. |
- Gurinović, Mirjana, et al.
(author)
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Capacity development in food composition database management and nutritional research and education in Central and Eastern European, Middle Eastern and North African countries.
- 2010
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In: European Journal of Clinical Nutrition. - : Springer Science and Business Media LLC. - 0954-3007 .- 1476-5640. ; 64 Suppl 3, s. S134-S138
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Journal article (peer-reviewed)abstract
- BACKGROUND/OBJECTIVES: Capacity development (CD) in food and nutrition is much more than formal training and includes human resource development, and organisational, institutional and legal framework development with the aim of enhancing nutrition-relevant knowledge and skills to support infrastructural development. The goal of the European Food Information Resource (EuroFIR) Network of Excellence has been to develop and integrate food composition data throughout Europe. EuroFIR joined forces in CD with the United Nations (UN) University and UN System Standing Committee on Nutrition, the Network for Capacity Development in Nutrition in Central and Eastern Europe, the Central and Eastern European Countries Food Data Systems network and with the Middle East and North African Capacity Building Initiative. The aim of this paper is to discuss an inventory of the status of food composition databases (FCDBs) and the training needs of compilers in non-EuroFIR countries in Central and Eastern Europe (CEE) and in the Middle East and North Africa (MENA), and to present the CD achieved through EuroFIR and other network collaborations.SUBJECTS/METHODS: Two online questionnaires were created addressing the FCDB status and specific training needs in countries of the targeted regions. Data were collected during 2006-2008 and then analysed. Subsequently, CD activities were organised.RESULTS: Contacts were established in 19 CEE and 7 MENA countries, of which several had national food composition tables, but no electronic versions. Education, training, workshops, networking and the sharing of experiences were uniformly requested. Subsequently, CD activities in EuroFIR were organised focussing on food composition courses, exchange visits, workshops and individual training for PhD students, junior scientists and other staff categories, as well as conferences linked to food composition research and food information. To facilitate CD activities, EuroFIR has signed a Memorandum of Understanding with the Czech Republic, Hungary, Slovenia, Croatia and Estonia.CONCLUSIONS: EuroFIR has created training activities that complement national activities. Collaboration with other networks has provided an overview of FCDB status and training needs, providing directions for CD activities in those countries. This provides a platform for new funding and further development and networking for CD, which would be conducive to European Commission objectives and public health strategies for CD.
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| 3. |
- Iles, Mark M., et al.
(author)
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A variant in FTO shows association with melanoma risk not due to BMI
- 2013
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:4, s. 428-432
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Journal article (peer-reviewed)abstract
- We report the results of an association study of melanoma that is based on the genome-wide imputation of the genotypes of 1,353 cases and 3,566 controls of European origin conducted by the GenoMEL consortium. This revealed an association between several SNPs in intron 8 of the FTO gene, including rs16953002, which replicated using 12,313 cases and 55,667 controls of European ancestry from Europe, the USA and Australia (combined P = 3.6 x 10(-12), per-allele odds ratio for allele A = 1.16). In addition to identifying a new melanomasusceptibility locus, this is to our knowledge the first study to identify and replicate an association with SNPs in FTO not related to body mass index (BMI). These SNPs are not in intron 1 (the BMI-related region) and exhibit no association with BMI. This suggests FTO's function may be broader than the existing paradigm that FTO variants influence multiple traits only through their associations with BMI and obesity.
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