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Showing 1–2 of 2 results
Advanced filters: Author: Grace Linder Clear advanced filters

  • The non-coding RNA RNU4-2, which is highly expressed in the developing human brain, is identified as a syndromic neurodevelopmental disorder gene, and, using RNA sequencing, 5′ splice-site use is shown to be systematically disrupted in individuals with RNU4-2 variants.

    • Yuyang Chen
    • Ruebena Dawes
    • Nicola Whiffin
    ResearchOpen Access
    Nature
    Volume: 632, P: 832-840

  • Still’s disease is an inflammatory syndrome linked to the development of further immune dysregulation and hypercytokinaemia termed macrophage activation syndrome. Here the authors implicate the mechanistic target of rapamycin complex 1 in murine models of Still’s disease and macrophage activation syndrome, and provide associations with clinical cases in patients

    • Zhengping Huang
    • Xiaomeng You
    • Pui Y. Lee
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-15