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  • Internal Dataset

    Esco2 and cohesin regulate CRL4 ubiquitin ligase ddb1 expression and thalidomide teratogenicity

    Authors
    M. Kathryn Iovine
    Robert Skibbens
    Description

    Cornelia de Lange syndrome (CdLS) and Roberts syndrome (RBS) are severe developmental maladies that arise from mutation of cohesin (including SMC3, CdLS) and ESCO2 (RBS). Though ESCO2 activates cohesin, CdLS and RBS etiologies are currently considered non-synonymous and for which pharmacological treatments are unavailable. Here, we identify a unifying mechanism that integrates these genetic maladies...

    Subject
    Abnormalities, Human
    Congenital Abnormalities
    CRL4 E3 ubiquitin ligase complex, human
    De Lange Syndrome
    Roberts Syndrome
    Thalidomide
    Access Rights
    Free to All
    Local Expert
    Robert Skibbens