Now showing items 1-2 of 2

    • Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. 

      Yost, S; de Wolf, B; Hanks, S; Zachariou, A; Marcozzi, C; Clarke, M; de Voer, R; Etemad, B; Uijttewaal, E; Ramsay, E; Wylie, H; Elliott, A; Picton, S; Smith, A; Smithson, S; Seal, S; Ruark, E; Houge, G; Pines, J; Kops, GJPL; Rahman, N (2017-07)
      Through exome sequencing, we identified six individuals with biallelic loss-of-function mutations in TRIP13. All six developed Wilms tumor. Constitutional mosaic aneuploidies, microcephaly, developmental delay and seizures, ...
    • Characterisation of CCT271850, a selective, oral and potent MPS1 inhibitor, used to directly measure in vivo MPS1 inhibition vs therapeutic efficacy. 

      Faisal, A; Mak, GWY; Gurden, MD; Xavier, CPR; Anderhub, SJ; Innocenti, P; Westwood, IM; Naud, S; Hayes, A; Box, G; Valenti, MR; De Haven Brandon, AK; O'Fee, L; Schmitt, J; Woodward, HL; Burke, R; vanMontfort, RLM; Blagg, J; Raynaud, FI; Eccles, SA; Hoelder, S; Linardopoulos, S (2017-04)
      Background The main role of the cell cycle is to enable error-free DNA replication, chromosome segregation and cytokinesis. One of the best characterised checkpoint pathways is the spindle assembly checkpoint, which prevents ...