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- Lissek, T, et al.
(författare)
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Building Bridges through Science
- 2017
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Ingår i: Neuron. - : Elsevier BV. - 1097-4199 .- 0896-6273. ; 96:4, s. 730-735
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Tidskriftsartikel (refereegranskat)
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- Lona-Durazo, Frida, et al.
(författare)
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Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations
- 2019
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Ingår i: BMC Genetics. - : BMC. - 1471-2156. ; 20
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Tidskriftsartikel (refereegranskat)abstract
- Background: Association studies in recently admixed populations are extremely useful to identify the genetic architecture of pigmentation, due to their high genotypic and phenotypic variation. However, to date only four Genome-Wide Association Studies (GWAS) have been carried out in these populations.Results: We present a GWAS of skin pigmentation in an admixed sample from Cuba (N=762). Additionally, we conducted a meta-analysis including the Cuban sample, and admixed samples from Cape Verde, Puerto Rico and African-Americans from San Francisco. This meta-analysis is one of the largest efforts so far to characterize the genetic basis of skin pigmentation in admixed populations (N=2,104). We identified five genome-wide significant regions in the meta-analysis, and explored if the markers observed in these regions are associated with the expression of relevant pigmentary genes in human melanocyte cultures. In three of the regions identified in the meta-analysis (SLC24A5, SLC45A2, and GRM5/TYR), the association seems to be driven by non-synonymous variants (rs1426654, rs16891982, and rs1042602, respectively). The rs16891982 polymorphism is strongly associated with the expression of the SLC45A2 gene. In the GRM5/TYR region, in addition to the rs1042602 non-synonymous SNP located on the TYR gene, variants located in the nearby GRM5 gene have an independent effect on pigmentation, possibly through regulation of gene expression of the TYR gene. We also replicated an association recently described near the MFSD12 gene on chromosome 19 (lead variant rs112332856). Additionally, our analyses support the presence of multiple signals in the OCA2/HERC2/APBA2 region on chromosome 15. A clear causal candidate is the HERC2 intronic variant rs12913832, which has a profound influence on OCA2 expression. This variant has pleiotropic effects on eye, hair, and skin pigmentation. However, conditional and haplotype-based analyses indicate the presence of other variants with independent effects on melanin levels in OCA2 and APBA2. Finally, a follow-up of genome-wide signals identified in a recent GWAS for tanning response indicates that there is a substantial overlap in the genetic factors influencing skin pigmentation and tanning response.Conclusions: Our meta-analysis of skin pigmentation GWAS in recently admixed populations provides new insights about the genetic architecture of this complex trait.
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- Bousquet, J. Jean, et al.
(författare)
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Next-generation ARIA care pathways for rhinitis and asthma : a model for multimorbid chronic diseases
- 2019
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Ingår i: Clinical and Translational Allergy. - : BMC. - 2045-7022. ; 9
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Forskningsöversikt (refereegranskat)abstract
- Background: In all societies, the burden and cost of allergic and chronic respiratory diseases are increasing rapidly. Most economies are struggling to deliver modern health care effectively. There is a need to support the transformation of the health care system into integrated care with organizational health literacy.Main body: As an example for chronic disease care, MASK (Mobile Airways Sentinel NetworK), a new project of the ARIA (Allergic Rhinitis and its Impact on Asthma) initiative, and POLLAR (Impact of Air POLLution on Asthma and Rhinitis, EIT Health), in collaboration with professional and patient organizations in the field of allergy and airway diseases, are proposing real-life ICPs centred around the patient with rhinitis, and using mHealth to monitor environmental exposure. Three aspects of care pathways are being developed: (i) Patient participation, health literacy and self-care through technology-assisted "patient activation", (ii) Implementation of care pathways by pharmacists and (iii) Next-generation guidelines assessing the recommendations of GRADE guidelines in rhinitis and asthma using real-world evidence (RWE) obtained through mobile technology. The EU and global political agendas are of great importance in supporting the digital transformation of health and care, and MASK has been recognized by DG Sante as a Good Practice in the field of digitally-enabled, integrated, person-centred care.Conclusion: In 20 years, ARIA has considerably evolved from the first multimorbidity guideline in respiratory diseases to the digital transformation of health and care with a strong political involvement.
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- Esteban-Cornejo, I, et al.
(författare)
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Objectively Measured Physical Activity During Physical Education and School Recess and Their Associations With Academic Performance in Youth: The UP&DOWN Study
- 2017
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Ingår i: Journal of physical activity & health. - : Human Kinetics. - 1543-5474 .- 1543-3080. ; 14:4, s. 275-282
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Tidskriftsartikel (refereegranskat)abstract
- This study examined the associations of objectively measured physical activity in Physical Education and recess with academic performance in youth.Methods:This cross-sectional study was conducted with 1,780 participants aged 6 to 18 years (863 girls). Physical activity was objectively measured by accelerometry and was also classified according to sex- and agespecific quartiles of physical activity intensities. Academic performance was assessed through school records.Results:Physical activity in physical education (PE) and recess was not associated with academic performance (β ranging from –0.038 to –0.003; all P > .05). Youth in the lowest quartile of physical activity in PE engaged in an average of 1.40 min of moderate-to-vigorous physical activity and those in the highest quartile engaged in 21.60 min (for recess: lowest quartile, 2.20 min; highest quartile, 11.15 min). There were no differences in academic performance between quartiles of physical activity in Physical Education and recess.Conclusions:Time spent at different physical activity intensities during PE and recess does not impair academic performance in youth.
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- Flores-Ruiz, F. J., et al.
(författare)
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Micro-tribological performance of fullerene-like carbon and carbon-nitride surfaces
- 2018
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Ingår i: Tribology International. - : Pergamon Press. - 0301-679X .- 1879-2464. ; 128, s. 104-112
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Tidskriftsartikel (refereegranskat)abstract
- We studied the microtribological behavior of amorphous and fullerene-like (FL) carbon and carbon-nitride coatings deposited by filtered-cathodic-arc. All films show similar friction coefficients but different wear mechanisms. The FL films exhibit a surface swelling with the formation of a layer that thickens during the test, limiting wear and maintaining a low friction. X-ray photoelectron spectroscopy on worn FL film surfaces show an increase in the sp(2)-content, indicating that the lubricious layer generated by the wear process is probably the result of re-hybridization due to plasticity induced by localized shear. In contrast, the wear results of the amorphous films, involving tribomechanical and tribochemical surface phenomena, show that the surface layer formed during sliding is a precursor to the onset of wear.
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