Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6074760 | Journal of Investigative Dermatology | 2016 | 9 Pages |
Abstract
A number of critical signaling pathways are required for homeostatic regulation of cell survival, differentiation, and proliferation during organogenesis. One of them is the PI3K-AKT-mTOR pathway consisting of a cascade of inhibitor/activator molecules. Recently, a number of heritable diseases with skin involvement, manifesting particularly with tissue overgrowth, have been shown to result from mutations in the genes in the PI3K-AKT-mTOR and interacting intracellular pathways. Many of these conditions represent an overlapping spectrum of phenotypic manifestations forming a basis for novel, unifying classiï¬cations. Identiï¬cation of the mutant genes and speciï¬c mutations in these patients has implications for diagnostics and genetic counseling and provides a rational basis for the development of novel treatment modalities for this currently intractable group of disorders.
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Authors
Hassan Vahidnezhad, Leila Yousseï¬an, Jouni Uitto,