About this collection

Recent Submissions

  • Interplay between genetic predisposition, macronutrient intake and type 2 diabetes incidence: analysis within EPIC-InterAct across eight European countries. 

    Li, Sherly X; Imamura, Fumiaki; Schulze, Matthias B; Zheng, Jusheng; Ye, Zheng; Agudo, Antonio; Ardanaz, Eva et al. (Springer Nature, 2018-03-17)
    Abstract Aims/hypothesis: Gene-macronutrient interactions may contribute to the development of type 2 diabetes but evidence is inconclusive. Methods: We investigated interactions between genetic risk scores (GRSs) for ...
  • Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases. 

    Ellingford, Jamie M; Horn, Bradley; Campbell, Christopher; Arno, Gavin; Barton, Stephanie; Tate, Catriona; Bhaskar, Sanjeev et al. (2018-02)
  • Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability. 

    Bosshard, Matthias; Aprigliano, Rossana; Gattiker, Cristina; Palibrk, Vuk; Markkanen, Enni; Backe, Paul Hoff; Pellegrino, Stefania et al. (2017-11-08)
  • Oxidation of SQSTM1/p62 mediates the link between redox state and protein homeostasis. 

    Carroll, Bernadette; Otten, Elsje G; Manni, Diego; Stefanatos, Rhoda; Menzies, Fiona M; Smith, Graham R; Jurk, Diana et al. (Springer Nature, 2018-01-17)
    Cellular homeostatic pathways such as macroautophagy (hereinafter autophagy) are regulated by basic mechanisms that are conserved throughout the eukaryotic kingdom. However, it remains poorly understood how these mechanisms ...

View more