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Träfflista för sökning "WFRF:(Conner Thomas) "

Sökning: WFRF:(Conner Thomas)

  • Resultat 1-6 av 6
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  • Brennan, Donal, et al. (författare)
  • The transcription factor Sox11 is a prognostic factor for improved recurrence-free survival in epithelial ovarian cancer
  • 2009
  • Ingår i: European Journal of Cancer. - : Elsevier BV. - 1879-0852 .- 0959-8049. ; 45:8, s. 1510-1517
  • Tidskriftsartikel (refereegranskat)abstract
    • Abstract Background: Current prognostic molecular markers for epithelial ovarian cancer (EOC) are insufficient. The aim of the current study was to investigate the role of Sox11 in EOC Methods: Using an in silico transcriptomic screen Sox11 was identified as a potential EOC biomarker. Sox11 protein expression was evaluated using immunohistochemistry (IHC) in 76 EOC cases, which were analyzed using automated algorithms to develop a quantitative scoring model. Results: Sox11 mRNA expression was up-regulated in EOC compared to normal tissues. Automated analysis of Sox11 in the EOC cohort revealed high expression of Sox11, in 40% of tumours, who had an improved recurrence free survival (RFS) (p= 0.002). Multivariate analysis confirmed Sox11 was an independent predictor of improved RFS after controlling for stage and grade. Conclusions: These data suggest that Sox11 is a new prognostic marker in EOC. Loss of SOX 11 is associated with a decreased RFS and a more aggressive phenotype.
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  • Gering, Eben, et al. (författare)
  • Getting Back to Nature: Feralization in Animals and Plants
  • 2019
  • Ingår i: Trends in Ecology & Evolution. - : ELSEVIER SCIENCE LONDON. - 0169-5347 .- 1872-8383. ; 34:12, s. 1137-1151
  • Forskningsöversikt (refereegranskat)abstract
    • Formerly domesticated organisms and artificially selected genes often escape controlled cultivation, but their subsequent evolution is not well studied. In this review, we examine plant and animal feralization through an evolutionary lens, including how natural selection, artificial selection, and gene flow shape feral genomes, traits, and fitness. Available evidence shows that feralization is not a mere reversal of domestication. Instead, it is shaped by the varied and complex histories of feral populations, and by novel selection pressures. To stimulate further insight we outline several future directions. These include testing how domestication genes act in wild settings, studying the brains and behaviors of feral animals, and comparative analyses of feral populations and taxa. This work offers feasible and exciting research opportunities with both theoretical and practical applications.
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  • Li, Zhong-Min, et al. (författare)
  • Concentrations of 45 Per- and Polyfluoroalkyl Substances in North American River Otters (Lontra canadensis) from West Virginia, USA
  • 2024
  • Ingår i: Environmental Science and Technology. - 0013-936X .- 1520-5851. ; 58:4, s. 2089-2101
  • Tidskriftsartikel (refereegranskat)abstract
    • North American river otters (Lontra canadensis) aretop predators in riverine ecosystems and are vulnerable to per- andpolyfluoroalkyl substance (PFAS) exposure. Little is known aboutthe magnitude of exposure and tissue distribution of PFAS in riverotters. We measured 45 PFAS in various tissues of 42 river otterscollected from several watersheds in the state of West Virginia,USA. The median concentrations of ΣAll (sum concentration of45 PFAS) varied among tissues in the following decreasing order:liver (931 ng/g wet weight) > bile > pancreas > lung > kidney >blood > brain > muscle. Perfluoroalkylsulfonates (PFSAs) were thepredominant compounds accounting for 58−75% of the totalconcentrations, followed by perfluoroalkyl carboxylates (PFCAs;21−35%). 8:2 fluorotelomer sulfonate (8:2 FTS), 10:2 FTS, and 6:2 chlorinated polyfluoroalkyl ether sulfonate were frequentlyfound in the liver (50−90%) and bile (96−100%), whereas hexafluoropropylene oxide dimer acid (HFPO-DA) was rarely found.The hepatic concentrations of ΣAll in river otters collected downstream of a fluoropolymer production facility located along theOhio River were 2-fold higher than those in other watersheds. The median whole body burden of ΣAll was calculated to be 1580μg. PFOS and perfluorooctanoic acid (PFOA) concentrations in whole blood of some river otters exceeded the human toxicityreference values, which warrant further studies.
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  • Thomassen, Mads, et al. (författare)
  • Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach
  • 2022
  • Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 43:12, s. 1921-1944
  • Tidskriftsartikel (refereegranskat)abstract
    • Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splicing event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess pathogenicity of 85 variants in/near BRCA2 exon 3. Bioinformatically predicted spliceogenic variants underwent mRNA splicing analysis using minigenes and/or patient samples. ∆E3 was measured using quantitative analysis. A mouse embryonic stem cell (mESC) based assay was used to determine the impact of 18 variants on mRNA splicing and protein function. For each variant, population frequency, bioinformatic predictions, clinical data, and existing mRNA splicing and functional results were collated. Variant class was assigned using a gene-specific adaptation of ACMG/AMP guidelines, following a recently proposed points-based system. mRNA and mESC analysis combined identified six variants with transcript and/or functional profiles interpreted as loss of function. Cryptic splice site use for acceptor site variants generated a transcript encoding a shorter protein that retains activity. Overall, 69/85 (81%) variants were classified using the points-based approach. Our analysis shows the value of applying gene-specific ACMG/AMP guidelines using a points-based approach and highlights the consideration of cryptic splice site usage to appropriately assign PVS1 code strength.
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  • Resultat 1-6 av 6

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