Somatic PIK3CA mutations as a driver of sporadic venous malformations

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

(2016) Sandra D. Castillo 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

Sirolimus for the treatment of children with various complicated vascular anomalies

(2015) Herwig Lackner et al.   EUROPEAN JOURNAL OF PEDIATRICS

Common and specific effects of TIE2 mutations causing venous malformations

(2015) Marjut Nätynki et al.   HUMAN MOLECULAR GENETICS

Modeling human PIK3CA-related congenital brain overgrowth and epilepsy in mice

(2015) Achira Roy et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

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

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

Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT)

(2015) Donavan T. Cheng et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Clinical and Genetic Aspects of the Segmental Overgrowth Spectrum Due to Somatic Mutations in PIK3CA

(2015) Hoon-Chul Kang et al.   JOURNAL OF PEDIATRICS

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

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

A Randomized, Controlled Trial of Oral Propranolol in Infantile Hemangioma

(2015) Christine Léauté-Labrèze et al.   NEW ENGLAND JOURNAL OF MEDICINE

Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies

(2015) M. Wassef et al.   PEDIATRICS

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

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

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

Genetics of lymphatic anomalies

(2014) Pascal Brouillard et al.   JOURNAL OF CLINICAL INVESTIGATION

Characterization of the Novel and Specific PI3K  Inhibitor NVP-BYL719 and Development of the Patient Stratification Strategy for Clinical Trials

(2014) C. Fritsch et al.   MOLECULAR CANCER THERAPEUTICS

PI3K and cancer: lessons, challenges and opportunities

(2014) David A. Fruman et al.   NATURE REVIEWS DRUG DISCOVERY

Genetics of vascular malformations

(2014) Ha-Long Nguyen et al.   Seminars in Pediatric Surgery

Vascular Malformations: A Review

(2014) Joshua Cox et al.   Seminars in Plastic Surgery

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

Successful treatment of a congenital extra-truncal vascular malformation by orally administered propranolol

(2013) Claudia Pföhler et al.   JOURNAL OF DERMATOLOGICAL TREATMENT

Integrated genomic characterization of endometrial carcinoma

(2013) Gad Getz et al.   NATURE

Development of PI3K inhibitors: lessons learned from early clinical trials

(2013) Jordi Rodon et al.   Nature Reviews Clinical Oncology

Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

(2013) Matthew D. Shirley et al.   NEW ENGLAND JOURNAL OF MEDICINE

A review of contemporary options for medical management of hemangiomas, other vascular tumors, and vascular malformations

(2013) Julie Blatt et al.   PHARMACOLOGY & THERAPEUTICS

Vascular Anomalies: From Genetics toward Models for Therapeutic Trials

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

The Complex Role of Angiopoietin-2 in the Angiopoietin-Tie Signaling Pathway

(2013) G. Thurston 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

Using genetically engineered mouse models to validate candidate cancer genes and test new therapeutic approaches

(2012) Martine H van Miltenburg et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

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

Cooperation between Pik3ca and p53 Mutations in Mouse Mammary Tumor Formation

(2011) J. R. Adams et al.   CANCER RESEARCH

Molecular control of endothelial cell behaviour during blood vessel morphogenesis

(2011) Shane P. Herbert et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

Sirolimus for the treatment of complicated vascular anomalies in children

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

Lkb1 inactivation is sufficient to drive endometrial cancers that are aggressive yet highly responsive to mTOR inhibitor monotherapy

(2010) C. M. Contreras et al.   Disease Models & Mechanisms

Venous malformation: update on aetiopathogenesis, diagnosis and management

(2010) A Dompmartin et al.   PHLEBOLOGY

Vascular Malformations of the Spine and Spinal Cord*

(2010) Timo Krings   Clinical Neuroradiology

The endothelial cell tube formation assay on basement membrane turns 20: state of the science and the art

(2009) Irina Arnaoutova et al.   ANGIOGENESIS

Elevated D-dimer Level in the Differential Diagnosis of Venous Malformations

(2009) Anne Dompmartin et al.   ARCHIVES OF DERMATOLOGY

Organ-specific lymphangiectasia, arrested lymphatic sprouting, and maturation defects resulting from gene-targeting of the PI3K regulatory isoforms p85α, p55α, and p50α

(2009) Carla Mouta-Bellum et al.   DEVELOPMENTAL DYNAMICS

Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects

(2009) Vinciane Wouters et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Prox-1 and VEGFR3 Antibodies Are Superior to D2–40 in Identifying Endothelial Cells of Lymphatic Malformations—A Proposal of a New Immunohistochemical Panel to Differentiate Lymphatic from other Vascular Malformations

(2008) Eumenia Costa da Cunha Castro et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY