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  • Xist-dependent imprinted X inactivation and the early developmental consequences of its failure 

    Borensztein, M; Syx, L; Ancelin, K; Diabangouaya, P; Picard, C; Liu, T; Liang, J-B et al. (Nature Publishing Group, 2017-03-01)
    The long noncoding RNA Xist is expressed from only the paternal X chromosome in mouse preimplantation female embryos and mediates transcriptional silencing of that chromosome. In females, absence of Xist leads to ...
  • A novel somatic mutation achieves partial rescue in a child with hutchinson-gilford progeria syndrome 

    Bar, DZ; Arlt, MF; Brazier, JF; Norris, WE; Campbell, SE; Chines, P; Larrieu, D et al. (BMJ Publishing, 2017-03-01)
    $\textbf{BACKGROUND}$: Hutchinson-Gilford progeria syndrome (HGPS) is a fatal sporadic autosomal dominant premature ageing disease caused by single base mutations that optimise a cryptic splice site within exon 11 of the ...
  • Targeting DNA Repair in Cancer: Beyond PARP Inhibitors 

    Brown, JS; O'Carrigan, B; Jackson, SP; Yap, TA (American Association for Cancer Research Inc., 2017-01-01)
    Germline aberrations in critical DNA-repair and DNA damage-response (DDR) genes cause cancer predisposition, whereas various tumors harbor somatic mutations causing defective DDR/DNA repair. The concept of synthetic lethality ...
  • The Mitotic Checkpoint Complex Requires an Evolutionary Conserved Cassette to Bind and Inhibit Active APC/C 

    Di Fiore, B; Wurzenberger, C; Davey, NE; Pines, J (Elsevier, 2016-12-15)
    The Spindle Assembly Checkpoint (SAC) ensures genomic stability by preventing sister chromatid separation until all chromosomes are attached to the spindle. It catalyzes the production of the Mitotic Checkpoint Complex ...

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