Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities

    January 2016 in “ ˜The œjournal of investigative dermatology/Journal of investigative dermatology ”
    Hassan Vahidnezhad, Leila Youssefian, Jouni Uitto
    Studysummary This article reviews the connection between PI3K-AKT-mTOR pathway mutations and heritable skin diseases characterized by tissue overgrowth, but it reports no new clinical results.
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    1. Folliculin Encoded by the BHD Gene Interacts with a Binding Protein, FNIP1, and AMPK, and Is Involved in AMPK and mTOR Signaling Proceedings of the National Academy of Sciences · 2006