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Showing 1–3 of 3 results
Advanced filters: Author: Raffaele Renella Clear advanced filters

  • Desmoplastic Small Round Cell Tumor (DSRCT) is an aggressive malignancy characterized by EWS-WT1 fusion oncoproteins with limited mechanistic understanding. Here, the authors identify EWS-WT1-dependent gene regulation networks and target genes, as well as the activities of two EWS-WT1 isoforms with distinct DNA binding profiles, both of which are indispensable for DSRCT formation.

    • Gaylor Boulay
    • Liliane C. Broye
    • Nicolò Riggi
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-17

  • Andrea Superti-Furga and colleagues report that mutations in ACP5, which encodes tartrate-resistant phosphatase, cause spondyloenchondrodysplasia, a syndrome of skeletal dysplasia, cerebral calcifications and autoimmunity. The affected individuals had elevated levels of phosphorylated osteopontin.

    • Ekkehart Lausch
    • Andreas Janecke
    • Andrea Superti-Furga
    Research
    Nature Genetics
    Volume: 43, P: 132-137

  • TWIST1 and TWIST2 were found to display an opposed expression pattern, with TWIST1 associated with poor survival and TWIST2 with good prognosis. Functional studies revealed that TWIST1 promotes both primary and metastatic neuroblastoma (NB) tumor growth. Further, a transcriptional signature of NB tumors with high levels of TWIST1 and associated with dismal outcome is provided, confirming TWIST1 as a promising therapeutic target in NB.

    • Maria-Vittoria Sepporta
    • Viviane Praz
    • Annick Mühlethaler-Mottet
    ResearchOpen Access
    Communications Biology
    Volume: 5, P: 1-17