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Usage Information

PTEN-opathies: from biological insights to evidence-based precision medicine
Lamis Yehia, … , Joanne Ngeow, Charis Eng
Lamis Yehia, … , Joanne Ngeow, Charis Eng
Published January 7, 2019
Citation Information: J Clin Invest. 2019;129(2):452-464. https://doi.org/10.1172/JCI121277.
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Review Series

PTEN-opathies: from biological insights to evidence-based precision medicine

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Abstract

The tumor suppressor phosphatase and tensin homolog (PTEN) classically counteracts the PI3K/AKT/mTOR signaling cascade. Germline pathogenic PTEN mutations cause PTEN hamartoma tumor syndrome (PHTS), featuring various benign and malignant tumors, as well as neurodevelopmental disorders such as autism spectrum disorder. Germline and somatic mosaic mutations in genes encoding components of the PI3K/AKT/mTOR pathway downstream of PTEN predispose to syndromes with partially overlapping clinical features, termed the “PTEN-opathies.” Experimental models of PTEN pathway disruption uncover the molecular and cellular processes influencing clinical phenotypic manifestations. Such insights not only teach us about biological mechanisms in states of health and disease, but also enable more accurate gene-informed cancer risk assessment, medical management, and targeted therapeutics. Hence, the PTEN-opathies serve as a prototype for bedside to bench, and back to the bedside, practice of evidence-based precision medicine.

Authors

Lamis Yehia, Joanne Ngeow, Charis Eng

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Usage data is cumulative from July 2024 through July 2025.

Usage JCI PMC
Text version 1,581 288
PDF 219 104
Figure 473 1
Table 175 0
Citation downloads 107 0
Totals 2,555 393
Total Views 2,948
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Usage information is collected from two different sources: this site (JCI) and Pubmed Central (PMC). JCI information (compiled daily) shows human readership based on methods we employ to screen out robotic usage. PMC information (aggregated monthly) is also similarly screened of robotic usage.

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