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5431.
  • Lind-Halldén, Christina, et al. (författare)
  • Genetic variation in the syntaxin-binding protein STXBP5 in type 1 von Willebrand disease patients
  • 2018
  • Ingår i: Thrombosis and Haemostasis. - : Georg Thieme Verlag. - 2567-689X .- 0340-6245. ; 118:8, s. 1382-1389
  • Tidskriftsartikel (refereegranskat)abstract
    • von Willebrand factor (VWF) levels in healthy individuals and in patients with type 1 von Willebrand disease (VWD) are influenced by genetic variation in several genes, for example, VWF, ABO and STXBP5. Here, we comprehensively screen for STXBP5 variants and investigate their association with type 1 VWD in Swedish patients and controls. The coding region of the STXBP5 gene was re-sequenced in 107 type 1 VWD patients and the detected variants were genotyped in the type 1 VWD population and a Swedish control population (464 individuals). The functional effects of missense alleles were predicted in silico and the pattern of genetic variation in STXBP5 was analysed. Re-sequencing of 107 type 1 VWD patients identified three missense and three synonymous variants in the coding sequence of STXBP5. The low-frequency missense variants rs144099092 (0.005) and rs148830578 (0.029) were predicted to be damaging, but were not accumulated in patients. No other rare candidate mutations were detected. STXBP5 showed a high level of linkage disequilibrium and a low overall nucleotide diversity of π = 3.2 × 10-4 indicating intolerance to variants affecting protein function. Three previously type 1 VWD-associated single nucleotide polymorphisms were located on one haplotype that showed an increased frequency in patients versus controls. No differences in messenger ribonucleic acid abundance among haplotypes could be found using Genotype-Tissue Expression project data. In conclusion, a haplotype containing the STXBP5 Asn436Ser (rs1039084) mutation is associated with type 1 VWD and no rare STXBP5 mutations contribute to type 1 VWD in the Swedish population.
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5435.
  • Lindahl, Britt (författare)
  • A longitudinal study of students' attitudes towards science and choice of career
  • 2007
  • Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
    • In the first part of the study I have followed 70 students from grade 5 (12y) to grade 9 (16y) to study the relationship between the students’ attitudes, understanding and ability and how and why their attitudes change during school. My focus is pupils’ reasons for choosing or not choosing science for high school. The second part of the study was done three years later just before these students left high school on their way to further studies or to working life. The results show that students have a positive attitude to science but often a more positive attitude to other subjects. As early as in grade 5 many students have an idea of their future career which later on is the same as their choice for high school and university. If science shall have a chance in their lives the students must have a positive experience of science from the beginning of elementary school through all years. Once they have lost their interest it is very diffi cult to get them back. The competition for their attention is intensive and the older they get the more diffi cult it will be to catch their interest and allegiance.
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