Associated Papers
Targeted RNA sequencing of thyroid tumors from individuals with PTEN hamartoma tumor syndrome reveals a unique transcriptome with a predominantly RAS-like expression profile.
Plitt G et al.
Surgery, 2026
The Genomic Landscape of Benign and Malignant Thyroid Tumors from Individuals Carrying Germline PTEN Variants Is Distinct from Sporadic Thyroid Cancers.
Plitt G et al.
Cancer Research, 2024
Quantitative evaluation of DNA damage repair dynamics to elucidate predictors of autism vs. cancer in individuals with germline PTEN variants.
Wei R et al.
Plos Computational Biology, 2024
Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.
Pinheiro M et al.
Nature Communications, 2024
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
ACTH-secreting pituitary carcinoma with TP53, NF1, ATRX and PTEN mutations Case report and review of the literature.
Sumislawski P et al.
Endocrine, 2022
Distinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations.
Yehia L et al.
Npj Genomic Medicine, 2022
Molecular profiling identifies synchronous endometrial and ovarian cancers as metastatic endometrial cancer with favorable clinical outcome.
Reijnen C et al.
International Journal of Cancer, 2020
Clinical and molecular aspects of PTEN mutations in 10 pediatric patients.
Isik E et al.
Annals of Human Genetics, 2020
Pan-cancer repository of validated natural and cryptic mRNA splicing mutations.
Shirley BC et al.
F1000research, 2018
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
Chen HJ et al.
Human Mutation, 2017
Landscape of somatic mutations in 560 breast cancer whole-genome sequences.
Nik-Zainal S et al.
Nature, 2016
Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer.
Shuch B et al.
The Journal of Urology, 2013
PTEN lipid phosphatase activity and proper subcellular localization are necessary and sufficient for down-regulating AKT phosphorylation in the nucleus in Cowden syndrome.
He X et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome.
Mester JL et al.
Urology, 2012
Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.
Heald B et al.
Gastroenterology, 2010
Pre-mRNA splicing aberrations and cancer.
Pettigrew CA et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2008
Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN.
Agrawal S et al.
Human Molecular Genetics, 2005