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| 3. |
- Demker, Marie, 1960, et al.
(författare)
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Förfinar arbetet mot rasism
- 2015
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Ingår i: Göteborgs-Posten. - 1103-9345. ; :17 juni 2015
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Tidskriftsartikel (populärvet., debatt m.m.)
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| 4. |
- Einarsdottir, Elisabet, et al.
(författare)
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Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family
- 2015
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Ingår i: Human Genetics. - : Springer Science and Business Media LLC. - 0340-6717 .- 1432-1203. ; 134:11-12, s. 1239-1248
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Tidskriftsartikel (refereegranskat)abstract
- Developmental dyslexia is the most common learning disorder in children. Problems in reading and writing are likely due to a complex interaction of genetic and environmental factors, resulting in reduced power of studies of the genetic factors underlying developmental dyslexia. Our approach in the current study was to perform exome sequencing of affected and unaffected individuals within an extended pedigree with a familial form of developmental dyslexia. We identified a two-base mutation, causing a p.R229L amino acid substitution in the centrosomal protein 63 kDa (CEP63), co-segregating with developmental dyslexia in this pedigree. This mutation is novel, and predicted to be highly damaging for the function of the protein. 3D modelling suggested a distinct conformational change caused by the mutation. CEP63 is localised to the centrosome in eukaryotic cells and is required for maintaining normal centriole duplication and control of cell cycle progression. We found that a common polymorphism in the CEP63 gene had a significant association with brain white matter volume. The brain regions were partly overlapping with the previously reported region influenced by polymorphisms in the dyslexia susceptibility genes DYX1C1 and KIAA0319. We hypothesise that CEP63 is particularly important for brain development and might control the proliferation and migration of cells when those two events need to be highly coordinated.
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- Matsson, Mikael, et al.
(författare)
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Intervallträningen som ger guld
- 2012
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Ingår i: Svensk Idrottsforskning. - 1103-4629. ; :2, s. 44-49
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 7. |
- Patelis, Antonios, et al.
(författare)
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Population-based study of multiplexed IgE sensitization in relation to asthma, exhaled nitric oxide, and bronchial responsiveness
- 2012
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Ingår i: Journal of Allergy and Clinical Immunology. - : Elsevier BV. - 0091-6749 .- 1097-6825. ; 130:2, s. 397-402
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Tidskriftsartikel (refereegranskat)abstract
- Background: IgE sensitization is an important risk factor for the development of asthma.Objective: The aim of this study was to investigate the IgE antibody profile for a broad spectrum of allergen molecules in asthmatic patients.Methods: Participants from the European Community Respiratory Health Survey II (n = 467) were tested with ImmunoCAP ISAC against 103 allergen molecules. The presence of bronchial hyperresponsiveness was measured with a methacholine challenge test and bronchial inflammation with fraction of exhaled nitric oxide (FENO).Results: A total of 38% of the controls and 72% of the asthmatic patients were sensitized against at least 1 of the allergen components (P < .0001). Asthma was independently related to having IgE antibodies against pollen (odds ratio = 2.2) and perennial airway allergens (odds ratio = 5.6), increased FENO was independently related to having IgE antibodies against food allergens and perennial allergens, while bronchial responsiveness was independently associated with having IgE antibodies against only perennial allergens. Sensitization to food allergens was related to asthma and increased FENO if IgE antibody against pollen allergens was present. Simultaneous sensitization to perennial, pollen, and food allergens involves the highest risk of asthma (odds ratio = 18.3), bronchial inflammation, and responsiveness.Conclusions: FENO, bronchial responsiveness, and the risk of asthma increase with multiple sensitizations to different allergen groups. We show for the first time that the presence of IgE antibodies against food allergens is independently associated with increased FENO and increases the risk of asthma in subjects with simultaneous sensitization to pollen allergens.
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| 8. |
- Ullbro, Christer, et al.
(författare)
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Tissue plasminogen activator (t-PA) and placental plasminogen activator inhibitor (PAI-2) in gingival crevicular fluid from patients with Papillon-Lefèvre syndrome
- 2004
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Ingår i: Journal of Clinical Periodontology. - 0303-6979 .- 1600-051X. ; 31:9, s. 708-712
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: Numerous patients with Papillon–Lefèvre syndrome (PLS) express a severe periodontal inflammation that results in premature loss of deciduous and permanent teeth. The plasminogen activating (PA) system is involved in physiological and pathological processes including epithelial healing, extracellular proteolysis and local inflammatory reactions. The aim of the study was to explore a possible role of the PA system in patients with PLS. Material and Methods: Samples of gingival crevicular fluid (GCF) were collected from areas with gingival infection in 20 patients with PLS and in 20 healthy controls. The concentration of tissue plasminogen activator (t-PA) and inhibitor (PAI-2) was measured with ELISA. Results: The median level of PAI-2 was significantly higher (p<0.01) in PLS patients than in the controls, while the median value of t-PA did not differ between the groups. No difference in t-PA or PAI-2 levels was found regarding age, gender or presence of active periodontal disease. Conclusion: The findings indicate an atypical activity of the PA system with a disturbed epithelial function in PLS patients, suggesting that the periodontal destruction seen in patients with PLS is secondary to a hereditary defect in the defense system.
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