Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies

Nephroblastomatosis or Wilms tumor in a fourth patient with a somaticPIK3CAmutation

(2016) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SomaticAKT1mutations cause meningiomas colocalizing with a characteristic pattern of cranial hyperostosis

(2016) Kim M. Keppler-Noreuil et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Macrodactyly in tuberous sclerosis complex: Case report and review of the literature

(2016) Mariana Soeiro e Sá et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Update on the Diagnosis and Management of Renal Angiomyolipoma

(2016) Andrew S. Flum et al.   JOURNAL OF UROLOGY

Rapamycin prevents, but does not reverse, aberrant migration in Pten knockout neurons

(2016) Stephanie A. Getz et al.   NEUROBIOLOGY OF DISEASE

Management of side effects of mTOR inhibitors in tuberous sclerosis patients

(2016) Krzysztof Sadowski et al.   Pharmacological Reports

mTOR pathway inhibition as a new therapeutic strategy in epilepsy and epileptogenesis

(2016) Rita Citraro et al.   PHARMACOLOGICAL RESEARCH

Inherited PTEN mutations and the prediction of phenotype

(2016) Nicholas R. Leslie et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Association ofMTORMutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

(2016) Ghayda M. Mirzaa et al.   JAMA Neurology

A germlineMTORmutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces

(2015) Gareth Baynam et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulatorNPRL3

(2015) Joe C. Sim et al.   ANNALS OF NEUROLOGY

Somatic Mutations in theMTORgene cause focal cortical dysplasia type IIb

(2015) Mitsuko Nakashima et al.   ANNALS OF NEUROLOGY

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia

(2015) Alissa M. D'Gama et al.   ANNALS OF NEUROLOGY

Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities

(2015) Cameron Mroske et al.   BMC Medical Genetics

PI3K/Akt/mTOR: A promising therapeutic target for non-medullary thyroid carcinoma

(2015) Mirela S. Petrulea et al.   CANCER TREATMENT REVIEWS

Diagnostic methods and treatment options for focal cortical dysplasia

(2015) Renzo Guerrini et al.   EPILEPSIA

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

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

Neurological and neuropsychiatric aspects of tuberous sclerosis complex

(2015) Paolo Curatolo et al.   LANCET NEUROLOGY

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

(2015) Jae Seok Lim et al.   NATURE MEDICINE

An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development

(2015) Seung Tae Baek et al.   NATURE MEDICINE

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR

(2015) R. J. Leventer et al.   NEUROLOGY

Activation of extracellular regulated kinase and mechanistic target of rapamycin pathway in focal cortical dysplasia

(2015) Vinit V. Patil et al.   NEUROPATHOLOGY

Balancing Proliferation and Connectivity in PTEN-associated Autism Spectrum Disorder

(2015) Amanda K. Tilot et al.   Neurotherapeutics

Tuberous Sclerosis Complex

(2015) Francis J. DiMario et al.   PEDIATRIC CLINICS OF NORTH AMERICA

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) Daria C. Loconte et al.   PLoS One

Epilepsy in Tuberous Sclerosis: Phenotypes, Mechanisms, and Treatments

(2015) Julian Sampson et al.   SEMINARS IN NEUROLOGY

Natural History and Current Treatment Options for Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

(2015) Sergiusz Jóźwiak et al.   Seminars in Pediatric Neurology

Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing

(2015) Magdalena E. Tyburczy et al.   PLoS Genetics

Targeting AKT1-E17K and the PI3K/AKT Pathway with an Allosteric AKT Inhibitor, ARQ 092

(2015) Yi Yu et al.   PLoS One

Targeting the PI3K/Akt/mTOR Pathway – Beyond Rapalogs

(2015)   Oncotarget

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

Cancer-Associated PTEN Mutants Act in a Dominant-Negative Manner to Suppress PTEN Protein Function

(2014) Antonella Papa et al.   CELL

Absence of subependymal nodules in patients with tubers suggests possible neuroectodermal mosaicism in tuberous sclerosis complex

(2014) Susana Boronat et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex

(2014) M. E. Tyburczy et al.   HUMAN MOLECULAR GENETICS

Computer-Aided Targeting of the PI3K/Akt/mTOR Pathway: Toxicity Reduction and Therapeutic Opportunities

(2014) Tan Li et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Sturge Weber–Like Gyral Calcification Seen in Tuberous Sclerosis Complex 1

(2014) Sayan Chatterjee et al.   JOURNAL OF CHILD NEUROLOGY

Therapeutic Targeting of Cellular Metabolism in Cells with Hyperactive mTORC1: A Paradigm Shift

(2014) Doug Medvetz et al.   MOLECULAR CANCER RESEARCH

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

(2014) Ghayda M Mirzaa et al.   NATURE GENETICS

A Diverse Array of Cancer-Associated MTOR Mutations Are Hyperactivating and Can Predict Rapamycin Sensitivity

(2014) B. C. Grabiner et al.   Cancer Discovery

PTEN Interacts with Histone H1 and Controls Chromatin Condensation

(2014) Zhu Hong Chen et al.   Cell Reports

Allosteric modulation of Ras and the PI3K/AKT/mTOR pathway: emerging therapeutic opportunities

(2014) Paul A. Hubbard et al.   Frontiers in Physiology

Targeting PI3K/Akt/mTOR Signaling in Cancer

(2014) Camillo Porta et al.   Frontiers in Oncology

mTOR-dependent abnormalities in autophagy characterize human malformations of cortical development: evidence from focal cortical dysplasia and tuberous sclerosis

(2013) Shireena A. Yasin et al.   ACTA NEUROPATHOLOGICA

When Overgrowth Bumps Into Cancer: The PTEN-Opathies

(2013) JESSICA MESTER et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Statins in Lymphangioleiomyomatosis. Simvastatin and Atorvastatin Induce Differential Effects ontuberous sclerosis complex 2–Null Cell Growth and Signaling

(2013) Elena N. Atochina-Vasserman et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Recognition of Tuberous Sclerosis in Adult Women: Delayed Presentation With Life-Threatening Consequences

(2013) Diane Seibert et al.   ANNALS OF INTERNAL MEDICINE

Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism

(2013) Steven Klein et al.   Autism Research

mTOR in aging, metabolism, and cancer

(2013) Marion Cornu et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex

(2013) M. E. Tyburczy et al.   HUMAN MOLECULAR GENETICS

Rapalogs and mTOR inhibitors as anti-aging therapeutics

(2013) Dudley W. Lamming et al.   JOURNAL OF CLINICAL INVESTIGATION

Phosphatidylinositol 3-kinase (PI3K) inhibitors as cancer therapeutics

(2013) Akintunde Akinleye et al.   Journal of Hematology & 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

Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

(2013) Darcy A. Krueger et al.   PEDIATRIC NEUROLOGY

Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

(2013) Hope Northrup et al.   PEDIATRIC NEUROLOGY

Sirolimus treatment of severe PTEN hamartoma tumor syndrome: case report and in vitro studies

(2013) Gordian L. Schmid et al.   PEDIATRIC RESEARCH

mTORC1 Inhibition Is Required for Sensitivity to PI3K p110  Inhibitors in PIK3CA-Mutant Breast Cancer

(2013) M. Elkabets et al.   Science Translational Medicine

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

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

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

(2012) Ghayda M. Mirzaa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

mTOR Signaling in Growth Control and Disease

(2012) Mathieu Laplante et al.   CELL

Adverse events associated with mTOR inhibitors

(2012) Nicolas Pallet et al.   Expert Opinion On Drug Safety

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

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

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

(2012) Annapurna Poduri et al.   NEURON

Aspirin Use, TumorPIK3CAMutation, and Colorectal-Cancer Survival

(2012) Xiaoyun Liao et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genomic Determinants of PI3K Pathway Inhibitor Response in Cancer

(2012) Britta Weigelt et al.   Frontiers in Oncology

Metformin, Independent of AMPK, Induces mTOR Inhibition and Cell-Cycle Arrest through REDD1

(2011) I. Ben Sahra et al.   CANCER RESEARCH

Nuclear PTEN Regulates the APC-CDH1 Tumor-Suppressive Complex in a Phosphatase-Independent Manner

(2011) Min Sup Song et al.   CELL

PI3K/mTORC1 activation in hamartoma syndromes: Therapeutic prospects

(2011) Vera P. Krymskaya et al.   CELL CYCLE

mTOR signaling in disease

(2011) Eva Dazert et al.   CURRENT OPINION IN CELL BIOLOGY

Mammalian target of rapamycin (mTOR) activation in focal cortical dysplasia and related focal cortical malformations

(2011) Michael Wong   EXPERIMENTAL NEUROLOGY

Activating mutations of TOR (target of rapamycin)

(2011) Molly Hardt et al.   GENES TO CELLS

A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes

(2011) Isabel Rodríguez-Escudero et al.   HUMAN MOLECULAR GENETICS

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

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

Oral rapamycin in the treatment of patients with hamartoma syndromes and PTEN mutation

(2011) Ionela Iacobas et al.   PEDIATRIC BLOOD & CANCER

An Activating Mutation of AKT2 and Human Hypoglycemia

(2011) K. Hussain et al.   SCIENCE

mTOR: A pathogenic signaling pathway in developmental brain malformations

(2011) Peter B. Crino   TRENDS IN MOLECULAR MEDICINE

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

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

Are port wines stains a feature of tuberous sclerosis?

(2010) D. Ben-Amitai et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

CLOVES syndrome with thoracic and central phlebectasia: Increased risk of pulmonary embolism

(2010) Ahmad I. Alomari et al.   JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY

Biallelic TSC gene inactivation in tuberous sclerosis complex

(2010) P. B. Crino et al.   NEUROLOGY

Everolimus for Subependymal Giant-Cell Astrocytomas in Tuberous Sclerosis

(2010) Darcy A. Krueger et al.   NEW ENGLAND JOURNAL OF MEDICINE

A complex interplay between Akt, TSC2 and the two mTOR complexes: Figure 1

(2009) Jingxiang Huang et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Mammalian target of rapamycin (mTOR) inhibition as a potential antiepileptogenic therapy: From tuberous sclerosis to common acquired epilepsies

(2009) Michael Wong   EPILEPSIA

The PIK3CA Gene as a Mutated Target for Cancer Therapy

(2008) John Gustin et al.   CURRENT CANCER DRUG TARGETS

Identification and characterization of NVP-BEZ235, a new orally available dual phosphatidylinositol 3-kinase/mammalian target of rapamycin inhibitor with potent in vivo antitumor activity

(2008) S.-M. Maira et al.   MOLECULAR CANCER THERAPEUTICS

PI3K pathway alterations in cancer: variations on a theme

(2008) T L Yuan et al.   ONCOGENE