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Showing 1–4 of 4 results
Advanced filters: Author: Robert E. Lintner Clear advanced filters

  • The functional impact of most missense variants remains unknown. Here the authors perform deep mutational scanning of the tumor suppressor SMARCB1 and find missense mutations that retain detectable protein expression but disrupt function similar to protein-null mutations

    • Garrett W. Cooper
    • Benjamin P. Lee
    • Andrew L. Hong
    ResearchOpen Access
    Nature Communications
    P: 1-19

  • In this work, the authors report a sophisticated combination of genetic, biophysical, and biochemical analyses to identifies the cycling conformational states of PPM1D. The findings reveal how an allosteric inhibitor locks the protein into a conformationally inactive state, and explain the distribution of PPM1D activating mutations in cancer.

    • Peter G. Miller
    • Murugappan Sathappa
    • Benjamin L. Ebert
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-16

  • Large-scale loss-of-function screens and TP53 saturation mutagenesis screens in human cancer cell lines suggest that mutational processes combine with phenotypic selection to shape the landscape of somatic mutations at the TP53 locus.

    • Andrew O. Giacomelli
    • Xiaoping Yang
    • William C. Hahn
    Research
    Nature Genetics
    Volume: 50, P: 1381-1387