PTEN-opathies: from biological insights to evidence-based precision medicine

A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships

(2018) Taylor L. Mighell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

65 YEARS OF THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: PTEN -opathies and precision medicine

(2018) Lamis Yehia et al.   ENDOCRINE-RELATED CANCER

A pathogenic role for germline PTEN variants which accumulate into the nucleus

(2018) Janire Mingo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Multiplex assessment of protein variant abundance by massively parallel sequencing

(2018) Kenneth A. Matreyek et al.   NATURE GENETICS

The functions and regulation of the PTEN tumour suppressor: new modes and prospects

(2018) Yu-Ru Lee et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

In utero nanoparticle delivery for site-specific genome editing

(2018) Adele S. Ricciardi et al.   Nature Communications

Suppression of insulin feedback enhances the efficacy of PI3K inhibitors

(2018) Benjamin D. Hopkins et al.   NATURE

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

(2018) Quitterie Venot et al.   NATURE

The Next Phase of Human Gene-Therapy Oversight

(2018) Francis S. Collins et al.   NEW ENGLAND JOURNAL OF MEDICINE

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

(2018) Jessica L. Mester et al.   HUMAN MUTATION

The microbiome in PTEN hamartoma tumor syndrome

(2017) Victoria Byrd et al.   ENDOCRINE-RELATED CANCER

Clinical Implications for Germline PTEN Spectrum Disorders

(2017) Joanne Ngeow et al.   ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA

Insertion of Alu elements at a PTEN hotspot in Cowden syndrome

(2017) Louise Crivelli et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cowden syndrome-associated germline succinate dehydrogenase complex subunit D (SDHD) variants cause PTEN-mediated down-regulation of autophagy in thyroid cancer cells

(2017) Wanfeng Yu et al.   HUMAN MOLECULAR GENETICS

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome

(2017) Hannah Jinlian Chen et al.   HUMAN MUTATION

Loss of PTEN Is Associated with Resistance to Anti-PD-1 Checkpoint Blockade Therapy in Metastatic Uterine Leiomyosarcoma

(2017) Suzanne George et al.   IMMUNITY

Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells

(2017) Hannah H. Chen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Intramucosal lipomas of the colon implicate Cowden syndrome

(2017) Aybuke Caliskan et al.   MODERN PATHOLOGY

Correction of a pathogenic gene mutation in human embryos

(2017) Hong Ma et al.   NATURE

Polyposis deserves a perfect physical examination for final diagnosis: bannayan-riley-ruvalcaba syndrome

(2017) Hayriye Hızarcıoğlu-Gülşen et al.   TURKISH JOURNAL OF PEDIATRICS

PTENβ is an alternatively translated isoform of PTEN that regulates rDNA transcription

(2017) Hui Liang et al.   Nature Communications

Cowden Syndrome: Serendipitous Diagnosis in Patients with Significant Breast Disease. Case Series and Literature Review

(2016) Roisin M. Heaney et al.   Breast Journal

Infantile Lhermitte-Duclos Disease Treated Successfully With Rapamycin

(2016) Megan Zak et al.   JOURNAL OF CHILD NEUROLOGY

Brain Development and Akt Signaling: the Crossroads of Signaling Pathway and Neurodevelopmental Diseases

(2016) Long Wang et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Inherited PTEN mutations and the prediction of phenotype

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

Landscape of Phosphatidylinositol-3-Kinase Pathway Alterations Across 19 784 Diverse Solid Tumors

(2016) Sherri Z. Millis et al.   JAMA Oncology

Understanding the Role of the Immune System in the Development of Cancer: New Opportunities for Population-Based Research

(2015) D. S. Michaud et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Control of PD-L1 Expression by Oncogenic Activation of the AKT–mTOR Pathway in Non–Small Cell Lung Cancer

(2015) Kristin J. Lastwika et al.   CANCER RESEARCH

Neural transcriptome of constitutional Pten dysfunction in mice and its relevance to human idiopathic autism spectrum disorder

(2015) A K Tilot et al.   MOLECULAR PSYCHIATRY

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

Loss of PTEN Promotes Resistance to T Cell-Mediated Immunotherapy

(2015) W. Peng et al.   Cancer Discovery

Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome

(2015) Marjorie J. Lindhurst et al.   Scientific Reports

Off-target Effects in CRISPR/Cas9-mediated Genome Engineering

(2015) Xiao-Hui Zhang et al.   Molecular Therapy-Nucleic Acids

CDK 4/6 Inhibitors Sensitize PIK3CA Mutant Breast Cancer to PI3K Inhibitors

(2014) Sadhna R. Vora et al.   CANCER CELL

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

(2014) Antonella Papa et al.   CELL

PTENα, a PTEN Isoform Translated through Alternative Initiation, Regulates Mitochondrial Function and Energy Metabolism

(2014) Hui Liang et al.   Cell Metabolism

Therapeutic Targeting of Cancers with Loss of PTEN Function

(2014) Lloye Dillon et al.   CURRENT DRUG TARGETS

Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation

(2014) Wanfeng Yu et al.   HUMAN MOLECULAR GENETICS

Germline disruption of Pten localization causes enhanced sex-dependent social motivation and increased glial production

(2014) A. K. Tilot et al.   HUMAN MOLECULAR GENETICS

Crosstalking between Androgen and PI3K/AKT Signaling Pathways in Prostate Cancer Cells

(2014) Suk Hyung Lee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Second Malignant Neoplasms in Patients With Cowden Syndrome With Underlying Germline PTEN Mutations

(2014) Joanne Ngeow et al.   JOURNAL OF CLINICAL ONCOLOGY

Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes

(2014) Laura Spinelli et al.   JOURNAL OF MEDICAL GENETICS

Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism

(2014) T W Frazier et al.   MOLECULAR PSYCHIATRY

Engineering ePTEN, an enhanced PTEN with increased tumor suppressor activities

(2014) Hoai-Nghia Nguyen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PTEN Interacts with Histone H1 and Controls Chromatin Condensation

(2014) Zhu Hong Chen et al.   Cell Reports

PTEN C-Terminal Deletion Causes Genomic Instability and Tumor Development

(2014) Zhuo Sun et al.   Cell Reports

Maternal Inflammation Contributes to Brain Overgrowth and Autism-Associated Behaviors through Altered Redox Signaling in Stem and Progenitor Cells

(2014) Janel E. Le Belle et al.   Stem Cell Reports

When Overgrowth Bumps Into Cancer: The PTEN-Opathies

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

Signaling by the Phosphoinositide 3-Kinase Family in Immune Cells

(2013) Klaus Okkenhaug   Annual Review of Immunology

Cowden Syndrome-Related Mutations in PTEN Associate with Enhanced Proteasome Activity

(2013) X. He et al.   CANCER RESEARCH

Cancer risk and genotype–phenotype correlations in PTEN hamartoma tumor syndrome

(2013) Marry H. Nieuwenhuis et al.   Familial Cancer

High cumulative risks of cancer in patients withPTENhamartoma tumour syndrome

(2013) Virginie Bubien et al.   JOURNAL OF MEDICAL GENETICS

Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial

(2013) John J Bissler et al.   LANCET

Activation of AR Sensitizes Breast Carcinomas to NVP-BEZ235's Therapeutic Effect Mediated by PTEN and KLLN Upregulation

(2013) Y. Wang et al.   MOLECULAR CANCER THERAPEUTICS

Everolimus long-term safety and efficacy in subependymal giant cell astrocytoma

(2013) D. A. Krueger et al.   NEUROLOGY

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

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

A Secreted PTEN Phosphatase That Enters Cells to Alter Signaling and Survival

(2013) B. D. Hopkins et al.   SCIENCE

Nuclear PTEN Controls DNA Repair and Sensitivity to Genotoxic Stress

(2013) C. Bassi et al.   SCIENCE

Germline PIK3CA and AKT1 Mutations in Cowden and Cowden-like Syndromes

(2012) Mohammed S. Orloff et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PTEN Hamartoma of Soft Tissue

(2012) Kyle C. Kurek et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Lifetime Cancer Risks in Individuals with Germline PTEN Mutations

(2012) M.-H. Tan et al.   CLINICAL CANCER RESEARCH

Autoimmunity, Intestinal Lymphoid Hyperplasia, and Defects in Mucosal B-Cell Homeostasis in Patients With PTEN Hamartoma Tumor Syndrome

(2012) Mario Heindl et al.   GASTROENTEROLOGY

Utility of PTEN Protein Dosage in Predicting for Underlying GermlinePTENMutations among Patients Presenting with Thyroid Cancer and Cowden-Like Phenotypes

(2012) Joanne Ngeow et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

SUMO1 modification of PTEN regulates tumorigenesis by controlling its association with the plasma membrane

(2012) Jian Huang et al.   Nature Communications

Reciprocal Feedback Regulation of PI3K and Androgen Receptor Signaling in PTEN-Deficient Prostate Cancer

(2011) Brett S. Carver et al.   CANCER CELL

2011: the immune hallmarks of cancer

(2011) Federica Cavallo et al.   CANCER IMMUNOLOGY IMMUNOTHERAPY

GATA2 negatively regulates PTEN by preventing nuclear translocation of androgen receptor and by androgen-independent suppression of PTEN transcription in breast cancer

(2011) Yu Wang et al.   HUMAN MOLECULAR GENETICS

Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53

(2011) Ying Ni et al.   HUMAN MOLECULAR GENETICS

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

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

Incidence and Clinical Characteristics of Thyroid Cancer in Prospective Series of Individuals with Cowden and Cowden-Like Syndrome Characterized by GermlinePTEN,SDH, orKLLNAlterations

(2011) Joanne Ngeow et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

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

Differential regulation of PTEN expression by androgen receptor in prostate and breast cancers

(2011) Y Wang et al.   ONCOGENE

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

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

A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands

(2010) Min-Han Tan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

(2010) Kim L. McBride et al.   Autism Research

Resveratrol enhances the anti-tumor activity of the mTOR inhibitor rapamycin in multiple breast cancer cell lines mainly by suppressing rapamycin-induced AKT signaling

(2010) Xin He et al.   CANCER LETTERS

Regression of subependymal giant cell astrocytomas with RAD001 (Everolimus) in tuberous sclerosis complex

(2010) Michal Yalon et al.   CHILDS NERVOUS SYSTEM

Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia

(2010) R. H. A. Ruvalcaba et al.   CLINICAL GENETICS

Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53

(2010) Xin He et al.   HUMAN MOLECULAR GENETICS

Subtle variations in Pten dose determine cancer susceptibility

(2010) Andrea Alimonti et al.   NATURE GENETICS

NovelPTENmutations in neurodevelopmental disorders and macrocephaly

(2009) A Orrico et al.   CLINICAL GENETICS

Targeting the mTOR pathway using deforolimus in cancer therapy

(2009) Devalingam Mahalingam et al.   Future Oncology

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

(2009) Elizabeth A Varga et al.   GENETICS IN MEDICINE

Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function

(2009) Glenn P. Lobo et al.   HUMAN MOLECULAR GENETICS

Suppression of cellular proliferation and invasion by the concerted lipid and protein phosphatase activities of PTEN

(2009) L Davidson et al.   ONCOGENE

Germline Mutations and Variants in the Succinate Dehydrogenase Genes in Cowden and Cowden-like Syndromes

(2008) Ying Ni et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PTEN and the PI3-Kinase Pathway in Cancer

(2008) Nader Chalhoub et al.   Annual Review of Pathology-Mechanisms of Disease

The TSC1–TSC2 complex: a molecular switchboard controlling cell growth

(2008) Jingxiang Huang et al.   BIOCHEMICAL JOURNAL

Suppression of Peutz-Jeghers Polyposis by Targeting Mammalian Target of Rapamycin Signaling

(2008) C. Wei et al.   CLINICAL CANCER RESEARCH

ATP modulates PTEN subcellular localization in multiple cancer cell lines

(2008) Glenn P. Lobo et al.   HUMAN MOLECULAR GENETICS

Comprehensive Identification of PIP3-Regulated PH Domains from C. elegans to H. sapiens by Model Prediction and Live Imaging

(2008) Wei Sun Park et al.   MOLECULAR CELL

Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome

(2008) M S Orloff et al.   ONCOGENE

The roles of PTEN in development, physiology and tumorigenesis in mouse models: a tissue-by-tissue survey

(2008) C B Knobbe et al.   ONCOGENE

PI(3) kinase is associated with a mechanism of immunoresistance in breast and prostate cancer

(2008) C A Crane et al.   ONCOGENE

PI3K pathway alterations in cancer: variations on a theme

(2008) T L Yuan et al.   ONCOGENE

Rapamycin treatment for a child with germline PTEN mutation

(2008) Deborah J Marsh et al.   Nature clinical practice. Oncology