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

The Journal of Investigative Dermatology
Hassan VahidnezhadJouni Uitto

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 classifications. Identification of the mutant genes and specific 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.

Citations

Jun 23, 2020·Human Molecular Genetics·Lamis Yehia, Charis Eng
May 31, 2018·Experimental Dermatology·Clare Rogerson, Ryan F L O'Shaughnessy
May 3, 2019·Technology and Health Care : Official Journal of the European Society for Engineering and Medicine·Fen TangChun Chu
Apr 3, 2016·The British Journal of Dermatology·H VahidnezhadJ Uitto
Apr 28, 2017·Molecular Medicine Reports·Runqin LiRufei Gao
Feb 23, 2020·Seminars in Cancer Biology·Sajad FakhriAnupam Bishayee
Nov 15, 2020·Biomedicine & Pharmacotherapy = Biomédecine & Pharmacothérapie·Zi-Ying WangMin Li
Sep 5, 2017·Biomedicine & Pharmacotherapy = Biomédecine & Pharmacothérapie·Yuming WangEnduo Qiu
Jul 21, 2021·Medicina clínica·Adriana Iriarte FusterAntoni Riera-Mestre

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