Now showing items 1-4 of 215609

    • Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts 

      Chen, J-H; Geberhiwot, T; Barrett, TG; Paisey, R; Semple, RK (Wiley, 2017-07)
      BACKGROUND: Alström syndrome (AS), featuring retinal dystrophy, neuronal deafness, cardiomyopathy, metabolic syndrome, and diffuse fibrosis, is caused by biallelic mutations in the centrosomal protein ALMS1. Genotype-phenotype ...
    • PGBD5 promotes site-specific oncogenic mutations in human tumors 

      Henssen, AG; Koche, R; Zhuang, J; Jiang, E; Reed, C; Eisenberg, A; Still, E et al. (Nature Publishing Group, 2017-07)
      Genomic rearrangements are a hallmark of human cancers. Here, we identify the piggyBac transposable element derived 5 (PGBD5) gene as encoding an active DNA transposase expressed in the majority of childhood solid tumors, ...
    • Anti-CD47 antibodies induce phagocytosis of live, malignant B cells by macrophages via the Fc domain, resulting in cell death by phagoptosis 

      Métayer, LE; Vilalta, A; Burke, GAA; Brown, GC
      When expressed on the surface of cells, CD47 inhibits phagocytosis of these cells by phagocytes. Most human cancers overexpress CD47, and antibodies to CD47 have shown a remarkable ability to clear a range of cancers in ...
    • The Gaia-ESO Survey: Galactic evolution of sulphur and zinc 

      Duffau, S; Caffau, E; Sbordone, L; Bonifacio, P; Andrievsky, S; Korotin, S; Babusiaux, C et al.
      Due to their volatile nature, when sulfur and zinc are observed in external galaxies, their determined abundances represent the gas-phase abundances in the interstellar medium. This implies that they can be used as tracers ...