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• W2553676809 endingPage "60" @default.
• W2553676809 startingPage "51" @default.
• W2553676809 abstract "Somatic mutations in genes of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway cause segmental overgrowth, hamartomas, and malignant tumors. Mosaicism for activating mutations in AKT1 or PIK3CA cause Proteus syndrome and PIK3CA-Related Overgrowth Spectrum, respectively. Postzygotic mutations in PTEN or TSC1/TSC2 cause mosaic forms of PTEN hamartoma tumor syndrome or tuberous sclerosis complex, respectively. Distinct features observed in these mosaic conditions in part reflect differences in embryological timing or tissue type harboring the mutant cells. Deep sequencing of affected tissue is useful for diagnosis. Drugs targeting mTORC1 or other points along this signaling pathway are in clinical trials to treat these disorders." @default.
• W2553676809 created "2016-11-30" @default.
• W2553676809 creator A5042514001 @default.
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• W2553676809 creator A5072682608 @default.
• W2553676809 creator A5078160338 @default.
• W2553676809 creator A5082874608 @default.
• W2553676809 date "2017-01-01" @default.
• W2553676809 modified "2023-10-07" @default.
• W2553676809 title "Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway" @default.
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• W2553676809 doi "https://doi.org/10.1016/j.det.2016.07.001" @default.
• W2553676809 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5130114" @default.
• W2553676809 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27890237" @default.
• W2553676809 hasPublicationYear "2017" @default.
• W2553676809 type Work @default.

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