Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors

Clinical delineation and natural history of thePIK3CA-related overgrowth spectrum

(2014) Kim M. Keppler-Noreuil et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Activating PIK3CA alleles and lymphangiogenic phenotype of lymphatic endothelial cells isolated from lymphatic malformations

(2014) Alexander J. Osborn et al.   HUMAN MOLECULAR GENETICS

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

(2014) Ghayda M Mirzaa et al.   NATURE GENETICS

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

(2012) Kyle C. Kurek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

(2012) Jonathan J. Rios et al.   HUMAN MOLECULAR GENETICS

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

(2012) Marjorie J Lindhurst et al.   NATURE GENETICS

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

A Dynamic Network Model of mTOR Signaling Reveals TSC-Independent mTORC2 Regulation

(2012) P. Dalle Pezze et al.   Science Signaling

Evidence for Direct Activation of mTORC2 Kinase Activity by Phosphatidylinositol 3,4,5-Trisphosphate

(2011) Xiaoqing Gan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

PI3K: A potential therapeutic target for cancer

(2011) Yingwei Chen et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Assessment and management of the orthopedic and other complications of Proteus syndrome

(2011) Laura L. Tosi et al.   Journal of Childrens Orthopaedics