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

Clinical Implications for Germline PTEN Spectrum Disorders

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

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

A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children

(2017) Emily Hansen-Kiss et al.   JOURNAL OF MEDICAL GENETICS

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

(2017) Hui Liang et al.   Nature Communications

Germline TTN variants are enriched in PTEN-wildtype Bannayan–Riley–Ruvalcaba syndrome

(2017) Lamis Yehia et al.   npj Genomic Medicine

Infantile Lhermitte-Duclos Disease Treated Successfully With Rapamycin

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

Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer

(2015) Lamis Yehia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis

(2015) Joanne Ngeow et al.   JOURNAL OF CLINICAL ONCOLOGY

Balancing Proliferation and Connectivity in PTEN-associated Autism Spectrum Disorder

(2015) Amanda K. Tilot et al.   Neurotherapeutics

A Functional Dissection of PTEN N-Terminus: Implications in PTEN Subcellular Targeting and Tumor Suppressor Activity

(2015) Anabel Gil et al.   PLoS One

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

GermlinePTEN,SDHB-D, andKLLNalterations in endometrial cancer patients with Cowden and Cowden-like syndromes: An international, multicenter, prospective study

(2014) Haider Mahdi et al.   CANCER

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

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

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

Cowden syndrome: Recognizing and managing a not-so-rare hereditary cancer syndrome

(2014) Jessica Mester et al.   JOURNAL OF SURGICAL ONCOLOGY

Realizing the promise of cancer predisposition genes

(2014) Nazneen Rahman   NATURE

When Overgrowth Bumps Into Cancer: The PTEN-Opathies

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

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

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

Unusual case of Cowden-like syndrome, neck paraganglioma, and pituitary adenoma

(2013) Zoe A. Efstathiadou et al.   HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK

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

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

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

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

(2013) B. D. Hopkins 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

Systemic Elevation of PTEN Induces a Tumor-Suppressive Metabolic State

(2012) Isabel Garcia-Cao et al.   CELL

Lifetime Cancer Risks in Individuals with Germline PTEN Mutations

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

Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome

(2012) Jessica Mester et al.   GENETICS IN MEDICINE

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

Endogenous viruses: insights into viral evolution and impact on host biology

(2012) Cédric Feschotte et al.   NATURE REVIEWS GENETICS

PTEN Mutations as a Cause of Constitutive Insulin Sensitivity and Obesity

(2012) Aparna Pal et al.   NEW ENGLAND JOURNAL OF MEDICINE

PTEN in cancer, metabolism, and aging

(2012) Ana Ortega-Molina et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Papillary Renal Cell Carcinoma Is Associated With PTEN Hamartoma Tumor Syndrome

(2012) Jessica L. Mester et al.   UROLOGY

Role of Phosphatidylinositol-3-Kinase Pathway in Head and Neck Squamous Cell Carcinoma

(2012) Li Du et al.   Journal of Oncology

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model

(2011) Jessica L Mester et al.   EUROPEAN JOURNAL OF HUMAN 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

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

Frequency of Germline PTEN Mutations in Differentiated Thyroid Cancer

(2011) Rebecca Nagy et al.   THYROID

High Frequency of PIK3R1 and PIK3R2 Mutations in Endometrial Cancer Elucidates a Novel Mechanism for Regulation of PTEN Protein Stability

(2011) Lydia W.T. Cheung et al.   Cancer Discovery

Prostate cancer in Cowden syndrome: somatic loss and germline mutation of the PTEN gene

(2011) Mafalda Barbosa et al.   Cancer Genetics

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

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

The Cowden syndrome: a clinical and genetic study in 21 patients

(2010) Th. M. Starink et al.   CLINICAL GENETICS

Frequent Gastrointestinal Polyps and Colorectal Adenocarcinomas in a Prospective Series of PTEN Mutation Carriers

(2010) Brandie Heald et al.   GASTROENTEROLOGY

Germline Epigenetic Regulation of KILLIN in Cowden and Cowden-like Syndrome

(2010) Kristi L. Bennett   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Subtle variations in Pten dose determine cancer susceptibility

(2010) Andrea Alimonti et al.   NATURE GENETICS

PTEN Deficiency in Endometrioid Endometrial Adenocarcinomas Predicts Sensitivity to PARP Inhibitors

(2010) K. J. Dedes et al.   Science Translational Medicine

First Report of Ovarian Dysgerminoma in Cowden Syndrome with Germline PTEN Mutation and PTEN-related 10q Loss of Tumor Heterozygosity

(2009) Mee-Yon Cho et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Cowden syndrome: a novel mutation and overlooked glycogenic acanthosis in gingiva

(2009) A. Nishizawa et al.   BRITISH JOURNAL OF DERMATOLOGY

DOG 1.0: illustrator of protein domain structures

(2009) Jian Ren et al.   CELL RESEARCH

NovelPTENmutations in neurodevelopmental disorders and macrocephaly

(2009) A Orrico et al.   CLINICAL GENETICS

Synthetic lethal targeting ofPTENmutant cells with PARP inhibitors

(2009) Ana M. Mendes-Pereira et al.   EMBO Molecular Medicine

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

PTEN hamartoma tumor syndrome: An overview

(2009) Judith A Hobert et al.   GENETICS IN MEDICINE

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

Differential Expression of PTEN-Targeting MicroRNAs miR-19a and miR-21 in Cowden Syndrome

(2008) Marcus G. Pezzolesi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

The PTEN/PI3K/AKT Signalling Pathway in Cancer, Therapeutic Implications

(2008) Amancio Carnero et al.   CURRENT CANCER DRUG TARGETS

The nuclear affairs of PTEN

(2008) S. M. Planchon et al.   JOURNAL OF CELL SCIENCE

Nectins and nectin-like molecules: roles in contact inhibition of cell movement and proliferation

(2008) Yoshimi Takai et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

PTEN: a new guardian of the genome

(2008) Y Yin et al.   ONCOGENE

Killin is a p53-regulated nuclear inhibitor of DNA synthesis

(2008) Y.-j. Cho et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rapamycin treatment for a child with germline PTEN mutation

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

Antitumor Activity of Rapamycin in a Phase I Trial for Patients with Recurrent PTEN-Deficient Glioblastoma

(2008) Tim F Cloughesy et al.   PLOS MEDICINE