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Träfflista för sökning "WFRF:(Desch Steven J.) "

Sökning: WFRF:(Desch Steven J.)

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1.
  • Rivas, Manuel A., et al. (författare)
  • A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
  • 2016
  • Ingår i: Nature Communications. - London, United Kingdom : Nature Publishing Group. - 2041-1723. ; 7
  • Tidskriftsartikel (refereegranskat)abstract
    • Protein-truncating variants protective against human disease provide in vivo validation of therapeutic targets. Here we used targeted sequencing to conduct a search for protein-truncating variants conferring protection against inflammatory bowel disease exploiting knowledge of common variants associated with the same disease. Through replication genotyping and imputation we found that a predicted protein-truncating variant (rs36095412, p.R179X, genotyped in 11,148 ulcerative colitis patients and 295,446 controls, MAF=up to 0.78%) in RNF186, a single-exon ring finger E3 ligase with strong colonic expression, protects against ulcerative colitis (overall P=6.89 × 10(-7), odds ratio=0.30). We further demonstrate that the truncated protein exhibits reduced expression and altered subcellular localization, suggesting the protective mechanism may reside in the loss of an interaction or function via mislocalization and/or loss of an essential transmembrane domain.
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2.
  • Hinkel, Natalie R., et al. (författare)
  • A Comparison Of Stellar Elemental Abundance Techniques And Measurements
  • 2016
  • Ingår i: Astrophysical Journal Supplement Series. - : American Astronomical Society. - 0067-0049 .- 1538-4365. ; 226:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Stellar elemental abundances are important for understanding the fundamental properties of a star or stellar group, such as age and evolutionary history, as well as the composition of an orbiting planet. However, as abundance measurement techniques have progressed, there has been little standardization between individual methods and their comparisons. As a result, different stellar abundance procedures determine measurements that vary beyond the quoted error for the same elements within the same stars. The purpose of this paper is to better understand the systematic variations between methods and offer recommendations for producing more accurate results in the future. We invited a number of participants from around the world (Australia, Portugal, Sweden, Switzerland, and the United States) to calculate 10 element abundances (C, O, Na, Mg, Al, Si, Fe, Ni, Ba, and Eu) using the same stellar spectra for four stars (HD 361, HD 10700, HD 121504, and HD 202206). Each group produced measurements for each star using (1) their own autonomous techniques, (2) standardized stellar parameters, (3) a standardized line list, and (4) both standardized parameters and a line list. We present the resulting stellar parameters, absolute abundances, and a metric of data similarity that quantifies the homogeneity of the data. We conclude that standardization of some kind, particularly stellar parameters, improves the consistency between methods. However, because results did not converge as more free parameters were standardized, it is clear there are inherent issues within the techniques that need to be reconciled. Therefore, we encourage more conversation and transparency within the community such that stellar abundance determinations can be reproducible as well as accurate and precise.
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