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Article

A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.

Human molecular genetics - 1 Nov 2011

Rodríguez-Escudero Isabel, Oliver María D, Andrés-Pons Amparo, Molina María, Cid Víctor J, Pulido Rafael

Abstract excerpt

The PTEN (phosphatase and tensin homolog) phosphatase is unique in mammals in terms of its tumor suppressor activity, exerted by dephosphorylation of the lipid second messenger PIP(3) (phosphatidylinositol 3,4,5-trisphosphate), which activates the phosphoinositide 3-kinase/Akt/mTOR (mammalian target of rapamycin) oncogenic pathway. Loss-of-function mutations in the PTEN gene are frequent in human cancer and in...

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Source

Identifiers

PMID: 21828076
DOI: 10.1093/hmg/ddr337

Genes

PTEN
PIP
TPTE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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