Constitutive activation of the PI3K‐AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome

Phenotype expansion and development in Kosaki overgrowth syndrome

(2018) P. Gawliński et al.   CLINICAL GENETICS

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS)

(2018) C. Ranieri et al.   NEUROGENETICS

A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib

(2017) Dinel Pond et al.   GENETICS IN MEDICINE

PDGFRβ regulates craniofacial development through homodimers and functional heterodimers with PDGFRα

(2016) Katherine A. Fantauzzo et al.   GENES & DEVELOPMENT

Novel Overgrowth Syndrome Phenotype Due to Recurrent De Novo PDGFRB Mutation

(2015) Toshiki Takenouchi et al.   JOURNAL OF PEDIATRICS

PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib

(2015) F A Arts et al.   ONCOGENE

PDGF activation in PGDS-positive arachnoid cells induces meningioma formation in mice promoting tumor progression in combination with Nf2 and Cdkn2ab loss

(2015) Matthieu Peyre et al.   Oncotarget

Assay of the Multiple Energy-Producing Pathways of Mammalian Cells

(2011) Barry R. Bochner et al.   PLoS One

Role of platelet-derived growth factors in physiology and medicine

(2008) J. Andrae et al.   GENES & DEVELOPMENT