Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans

Somatic PIK3CA mutations as a driver of sporadic venous malformations

(2016) Pau Castel et al.   Science Translational Medicine

Heterozygous expression of the oncogenic Pik3caH1047R mutation during murine development results in fatal embryonic and extraembryonic defects

(2015) Lauren M. Hare et al.   DEVELOPMENTAL BIOLOGY

Ubiquitous expression of the Pik3caH1047R mutation promotes hypoglycemia, hypoinsulinemia, and organomegaly

(2015) Kathryn M. Kinross et al.   FASEB JOURNAL

Common and specific effects of TIE2 mutations causing venous malformations

(2015) Marjut Nätynki et al.   HUMAN MOLECULAR GENETICS

Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects

(2015) Elisa Boscolo et al.   JOURNAL OF CLINICAL INVESTIGATION

Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA

(2015) Valerie L. Luks et al.   JOURNAL OF PEDIATRICS

Topical rapamycin combined with pulsed dye laser in the treatment of capillary vascular malformations in Sturge-Weber syndrome: Phase II, randomized, double-blind, intraindividual placebo-controlled clinical trial

(2015) Laura Marqués et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

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

Clinical delineation and natural history of thePIK3CA-related overgrowth spectrum

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

Duration of Rapamycin Treatment Has Differential Effects on Metabolism in Mice

(2013) Yimin Fang et al.   Cell Metabolism

Regulation of angiogenesis by PI3K signaling networks

(2013) Mariona Graupera et al.   EXPERIMENTAL CELL RESEARCH

Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB

(2013) Melanie Uebelhoer et al.   HUMAN MOLECULAR GENETICS

Inhibition of the p110α isoform of PI 3-kinase stimulates nonfunctional tumor angiogenesis

(2013) Adriana Soler et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Treatment of Infantile Hemangiomas with Sirolimus in a Patient with PHACE Syndrome

(2013) Samer Kaylani et al.   PEDIATRIC DERMATOLOGY

Vascular Anomalies: From Genetics toward Models for Therapeutic Trials

(2013) M. Uebelhoer et al.   Cold Spring Harbor Perspectives in Medicine

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

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

An activating Pik3ca mutation coupled with Pten loss is sufficient to initiate ovarian tumorigenesis in mice

(2012) Kathryn M. Kinross et al.   JOURNAL OF CLINICAL INVESTIGATION

Efficacy of Rapamycin for Refractory Hemangioendotheliomas in Maffucci's Syndrome

(2012) Stephanie Riou et al.   JOURNAL OF CLINICAL ONCOLOGY

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

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

(2012) Jeong Ho Lee et al.   NATURE GENETICS

PI3K signalling: the path to discovery and understanding

(2012) Bart Vanhaesebroeck et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Blue Rubber Bleb Nevus Syndrome: Successful Treatment With Sirolimus

(2012) Hasan Yuksekkaya et al.   PEDIATRICS

Vascular Malformations: Classification and Terminology the Radiologist Needs to Know

(2012) Lisa H. Lowe et al.   SEMINARS IN ROENTGENOLOGY

Sirolimus for the treatment of complicated vascular anomalies in children

(2011) Adrienne M. Hammill et al.   PEDIATRIC BLOOD & CANCER

Stem cell marker upregulation in normal cutaneous vessels following pulsed-dye laser exposure and its abrogation by concurrent rapamycin administration: implications for treatment of port-wine stain birthmarks

(2010) Robert Loewe et al.   JOURNAL OF CUTANEOUS PATHOLOGY

Inducible gene targeting in the neonatal vasculature and analysis of retinal angiogenesis in mice

(2010) Mara E Pitulescu et al.   Nature Protocols

Venous malformation: update on aetiopathogenesis, diagnosis and management

(2010) A Dompmartin et al.   PHLEBOLOGY

Molecular differentiation and specialization of vascular beds

(2009) Susana F. Rocha et al.   ANGIOGENESIS

mTOR Regulation and Therapeutic Rejuvenation of Aging Hematopoietic Stem Cells

(2009) C. Chen et al.   Science Signaling

Efficient, inducible Cre-recombinase activation in vascular endothelium

(2008) Suzanne Claxton et al.   GENESIS

Vascular malformations as underlying cause of chronic thromboembolism and pulmonary hypertension

(2008) Charlene E.U. Oduber et al.   Journal of Plastic Reconstructive and Aesthetic Surgery

Angiogenesis selectively requires the p110α isoform of PI3K to control endothelial cell migration

(2008) Mariona Graupera et al.   NATURE

Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations

(2008) Nisha Limaye et al.   NATURE GENETICS

A novel transgenic mice model for venous malformation

(2008) Yan An Wang et al.   TRANSGENIC RESEARCH