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  • 1
    Keywords: PATHWAY ; COMPLEX ; leukemia ; CHILDHOOD ; STRUCTURAL BASIS ; cancer genes ; LANDSCAPE
    Abstract: Medulloblastomas are themost commonmalignant brain tumours in children(1). Identifying and understanding the genetic events that drive these tumours is critical for the development of more effective diagnostic, prognostic and therapeutic strategies. Recently, our group and others described distinct molecular subtypes ofmedulloblastoma on the basis of transcriptional and copy number profiles(2-5). Here we use whole-exome hybrid capture and deep sequencing to identify somatic mutations across the coding regions of 92 primary medulloblastoma/normal pairs. Overall, medulloblastomas have low mutation rates consistent with other paediatric tumours, with a median of 0.35 non-silent mutations per megabase. We identified twelve genes mutated at statistically significant frequencies, including previously known mutated genes in medulloblastoma such as CTNNB1, PTCH1, MLL2, SMARCA4 andTP53. Recurrent somatic mutations were newly identified in an RNA helicase gene, DDX3X, often concurrent with CTNNB1 mutations, and in the nuclear co-repressor (N-CoR) complex genes GPS2, BCOR and LDB1. We show that mutant DDX3X potentiates transactivation of a TCF promoter and enhances cell viability in combination with mutant, but not wild-type, beta-catenin. Together, our study reveals the alteration ofWNT, hedgehog, histone methyltransferase and now N-CoR pathways across medulloblastomas and within specific subtypes of this disease, and nominates theRNA helicase DDX3X as a component of pathogenic b-catenin signalling in medulloblastoma.
    Type of Publication: Journal article published
    PubMed ID: 22820256
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  • 2
    Electronic Resource
    Electronic Resource
    [S.l.] : American Institute of Physics (AIP)
    Journal of Applied Physics 87 (2000), S. 7013-7015 
    ISSN: 1089-7550
    Source: AIP Digital Archive
    Topics: Physics
    Notes: A cluster-beam deposition technique has been used to produce magnetic clusters embedded in a nonmagnetic matrix. We report here on films with cobalt clusters of average diameter of 5.5 nm embedded both in Cu and Ag. Volumetric concentrations of Co ranged from 10% to 50%. Magnetization and low temperature hysteresis loops, both field cooled (FC) and zero-field cooled (ZFC), have been measured between 4.2 and 300 K. The FC and ZFC magnetization bifurcate at or above room temperature with the clusters having a nonzero remanence at room temperature. Low temperature hysteresis loops exhibit a two-phase nature with one phase displaying exchange bias upon field cooling, suggesting the presence of an oxide phase. Conditions under which the oxide is present have been studied. © 2000 American Institute of Physics.
    Type of Medium: Electronic Resource
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