Daria C Loconte Valentina Grossi Cristina Bozzao Giovanna Forte Rosanna Bagnulo Alessandro Stella Patrizia Lastella Mario Cutrone Francesco Benedicenti Francesco C Susca Margherita Patruno Dora Varvara Aldo Germani Luciana Chessa Nicola Laforgia Romano Tenconi Cristiano Simone Nicoletta Resta
10.1371/journal.pone.0123092
PLoS One
2015 Apr 27;10(4):e0123092.
CC BY
https://pubmed.ncbi.nlm.nih.gov/25915946/
Congenital Abnormalities / genetics Mutation Phosphatidylinositol 3-Kinases / genetics Proto-Oncogene Proteins c-akt / metabolism Signal Transduction TOR Serine-Threonine Kinases / metabolism
Congenital Abnormalities / genetics Mutation Phosphatidylinositol 3-Kinases / genetics Proto-Oncogene Proteins c-akt / metabolism Signal Transduction TOR Serine-Threonine Kinases / metabolism Case Reports Research Support, Non-U.S. Gov't Adipose Tissue / metabolism Adipose Tissue / pathology Cells, Cultured Child Class I Phosphatidylinositol 3-Kinases Congenital Abnormalities / diagnosis Connective Tissue / metabolism Connective Tissue / pathology Female Fibroblasts / drug effects Fibroblasts / metabolism Humans Infant Male Phosphatidylinositol 3-Kinases / metabolism Phosphoinositide-3 Kinase Inhibitors Protein Kinase Inhibitors / pharmacology Zygote / metabolism Phosphoinositide-3 Kinase Inhibitors Protein Kinase Inhibitors Class I Phosphatidylinositol 3-Kinases PIK3CA protein, human Proto-Oncogene Proteins c-akt TOR Serine-Threonine Kinases
PMC4411002
25915946
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
2015