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 syndromes. Germline <i>P...

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Bibliografiske detaljer

Principais autores:	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:	Artigo
Sprog:	Inglês
Udgivet:	MDPI AG 2024-02-01
Serier:	Life
Fag:	precision medicine genomics genomic data interpretation overgrowth undergrowth PI3K
Online adgang:	https://www.mdpi.com/2075-1729/14/3/297
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