Structural and Dynamic Analyses of Pathogenic Variants in <i>PIK3R1</i> Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes

Structural and Dynamic Analyses of Pathogenic Variants in <i>PIK3R1</i> Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes

The PI3K enzymes modify phospholipids to regulate cell growth and differentiation. Somatic variants in PI3K are recurrent in cancer and drive a proliferative phenotype. Somatic mosaicism of <i>PIK3R1</i> and <i>PIK3CA</i> are associated with vascular anomalies and overgrowth...

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Bibliographic Details
Main Authors: Nikita R. Dsouza, Catherine E. Cottrell, Olivia M. T. Davies, Megha M. Tollefson, Ilona J. Frieden, Donald Basel, Raul Urrutia, Beth A. Drolet, Michael T. Zimmermann
Format: Article
Language:English
Published: MDPI AG 2024-02-01
Series:Life
Subjects:
precision medicine
genomics
genomic data interpretation
overgrowth
undergrowth
PI3K
Online Access:https://www.mdpi.com/2075-1729/14/3/297

Internet

https://www.mdpi.com/2075-1729/14/3/297

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