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Showing 1–5 of 5 results
Advanced filters: Author: Samantha Gadd Clear advanced filters

  • ACVR1 and H3.1K27M mutations co-occur in diffuse intrinsic pontine glioma. Here, the authors generate a mouse model that recapitulates these genetic lesions and show, using genetic and pharmacological approaches, that the bone morphogenetic protein pathway may be a therapeutic target in these tumours.

    • Christine M. Hoeman
    • Francisco J. Cordero
    • Oren J. Becher
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-15

  • Wilms tumour is a rare renal neoplasm that primarily affects children but the genomic changes responsible for its development are currently largely unknown. In this study, the authors identify somatic mutations of the MLLT1gene that are potentially involved in the aetiology of a subset of Wilms tumours.

    • Elizabeth J. Perlman
    • Samantha Gadd
    • Malcolm A. Smith
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-10

  • Elizabeth Perlman and colleagues use genome-wide sequencing, RNA expression, DNA copy number and methylation analyses to characterize the genomic landscape of Wilms tumors. Their integrated analyses implicate two major classes of genetic changes in Wilms tumors that preserve the progenitor state and/or interrupt normal kidney development.

    • Samantha Gadd
    • Vicki Huff
    • Elizabeth J Perlman
    Research
    Nature Genetics
    Volume: 49, P: 1487-1494

  • Here, the authors describe the history of the efforts to expand knowledge of Wilms tumour biology, genetics, embryonal origin and associated syndromic and familial conditions, and to clinically apply prognostic biomarkers and development of preclinical models.

    • Daniela Perotti
    • Richard D. Williams
    • Kathy Pritchard-Jones
    Reviews
    Nature Reviews Urology
    Volume: 21, P: 158-180