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1.
  • Oddsdottír, Embla Eir, et al. (författare)
  • Gender Equality for a Thriving, Sustainable Arctic
  • 2021
  • Ingår i: Sustainability. - : MDPI AG. - 2071-1050. ; 13:19
  • Tidskriftsartikel (refereegranskat)abstract
    • On 21 May 2021, a milestone Pan-Arctic Report: Gender Equality in the Arctic was publishedin tandem with the Arctic Council’s Ministerial Meeting held in Reykjavík, 19–20 May 2021. This articleprovides a brief review of the report and its major findings across six chapters that address key themesconcerning gender equality in the Arctic: Law and Governance, Security, Gender and Environment,Migration and Mobility, Indigeneity, Gender, Violence, Reconciliation and Empowerment and Fate Control.A major conclusion of the report is that accessible, comparable, gender-disaggregated, and Arctic -specificdata is severely lacking. Further, all chapters highlight the importance of gender-based analysis and gendermainstreaming in all decision-making processes at national and regional levels. The varying roles thatgender—and its intersections with existing inequalities—plays in mediating the impacts of climate changeand other socioeconomic transformations are also discussed throughout the report. The Arctic Councilis identified as the main driver for implementing recommendations that were provided and discussedat the Council’s Ministerial Meeting and in the Reykjavík Declaration 2021, where the eight ministers ofArctic states “Emphasize[s] the importance of gender equality and respect for diversity for sustainabledevelopment in the Arctic. . .encourage[s] the mainstreaming of gender-based analysis in the work of theArctic Council and call[s] for further action to advance gender equality in the Arctic”. This report and itspolicy relevant highlights, address these priorities and serve as a knowledge base for promoting genderequality and non-discrimination in the Arctic.
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2.
  • Ried, Janina S., et al. (författare)
  • A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape
  • 2016
  • Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
  • Tidskriftsartikel (refereegranskat)abstract
    • Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index, height, weight, waist and hip circumference, waist-to-hip ratio). The first four AvPCs explain >99% of the variability, are heritable, and associate with cardiometabolic outcomes. We performed genome-wide association analyses for each body shape composite phenotype across 65 studies and meta-analysed summary statistics. We identify six novel loci: LEMD2 and CD47 for AvPC1, RPS6KA5/C14orf159 and GANAB for AvPC3, and ARL15 and ANP32 for AvPC4. Our findings highlight the value of using multiple traits to define complex phenotypes for discovery, which are not captured by single-trait analyses, and may shed light onto new pathways.
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3.
  • Sandholm, Niina, et al. (författare)
  • New susceptibility loci associated with kidney disease in type 1 diabetes
  • 2012
  • Ingår i: PLOS Genetics. - San Francisco, USA : Public Library of Science, PLOS. - 1553-7390 .- 1553-7404. ; 8:9, s. e1002921-
  • Tidskriftsartikel (refereegranskat)abstract
    • Diabetic kidney disease, or diabetic nephropathy (DN), is a major complication of diabetes and the leading cause of end-stage renal disease (ESRD) that requires dialysis treatment or kidney transplantation. In addition to the decrease in the quality of life, DN accounts for a large proportion of the excess mortality associated with type 1 diabetes (T1D). Whereas the degree of glycemia plays a pivotal role in DN, a subset of individuals with poorly controlled T1D do not develop DN. Furthermore, strong familial aggregation supports genetic susceptibility to DN. However, the genes and the molecular mechanisms behind the disease remain poorly understood, and current therapeutic strategies rarely result in reversal of DN. In the GEnetics of Nephropathy: an International Effort (GENIE) consortium, we have undertaken a meta-analysis of genomewide association studies (GWAS) of T1D DN comprising similar to 2.4 million single nucleotide polymorphisms (SNPs) imputed in 6,691 individuals. After additional genotyping of 41 top ranked SNPs representing 24 independent signals in 5,873 individuals, combined meta-analysis revealed association of two SNPs with ESRD: rs7583877 in the AFF3 gene (P = 1.2 x 10(-8)) and an intergenic SNP on chromosome 15q26 between the genes RGMA and MCTP2, rs12437854 (P = 2.0 x 10(-9)). Functional data suggest that AFF3 influences renal tubule fibrosis via the transforming growth factor-beta (TGF-beta 1) pathway. The strongest association with DN as a primary phenotype was seen for an intronic SNP in the ERBB4 gene (rs7588550, P = 2.1 x 10(-7)), a gene with type 2 diabetes DN differential expression and in the same intron as a variant with cis-eQTL expression of ERBB4. All these detected associations represent new signals in the pathogenesis of DN.
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