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Träfflista för sökning "WFRF:(Pirinen Pekka) srt2:(2014)"

Sökning: WFRF:(Pirinen Pekka) > (2014)

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1.
  • Popovski, Petar, et al. (författare)
  • EU FP7 INFSO-ICT-317669 METIS, D2.3 Components of a new air interface - building blocks and performance
  • 2014
  • Rapport (övrigt vetenskapligt/konstnärligt)abstract
    • This document provides intermediate results of the concepts being developed in the radio link research of METIS. For each of the technology components (TeC) within the technology component clusters (TeCC), covering flexible air interface, new waveforms, modulation and coding techniques as well as multiple access, medium access control and enablers for radio resource management, key findings and conclusions collected so far are summarized in section 2. Continuative descriptions and research outcomes are given in the annex and referred publications.The results presented here will be extended in the further progress of the project, and they will be used in the next phase of the project to develop and refine the overall METIS system concept instantiated by the horizontal topics. The suitability of the single technology components for the overall system design being able to meet the wide range of requirements for 5G will then be evaluated.
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2.
  • Tukiainen, Taru, et al. (författare)
  • Chromosome x-wide association study identifies Loci for fasting insulin and height and evidence for incomplete dosage compensation.
  • 2014
  • Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 10:2
  • Tidskriftsartikel (refereegranskat)abstract
    • The X chromosome (chrX) represents one potential source for the "missing heritability" for complex phenotypes, which thus far has remained underanalyzed in genome-wide association studies (GWAS). Here we demonstrate the benefits of including chrX in GWAS by assessing the contribution of 404,862 chrX SNPs to levels of twelve commonly studied cardiometabolic and anthropometric traits in 19,697 Finnish and Swedish individuals with replication data on 5,032 additional Finns. By using a linear mixed model, we estimate that on average 2.6% of the additive genetic variance in these twelve traits is attributable to chrX, this being in proportion to the number of SNPs in the chromosome. In a chrX-wide association analysis, we identify three novel loci: two for height (rs182838724 near FGF16/ATRX/MAGT1, joint P-value = 2.71×10(-9), and rs1751138 near ITM2A, P-value = 3.03×10(-10)) and one for fasting insulin (rs139163435 in Xq23, P-value = 5.18×10(-9)). Further, we find that effect sizes for variants near ITM2A, a gene implicated in cartilage development, show evidence for a lack of dosage compensation. This observation is further supported by a sex-difference in ITM2A expression in whole blood (P-value = 0.00251), and is also in agreement with a previous report showing ITM2A escapes from X chromosome inactivation (XCI) in the majority of women. Hence, our results show one of the first links between phenotypic variation in a population sample and an XCI-escaping locus and pinpoint ITM2A as a potential contributor to the sexual dimorphism in height. In conclusion, our study provides a clear motivation for including chrX in large-scale genetic studies of complex diseases and traits.
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