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
Cellular heterogeneity and therapeutic response profiling of human IDH + glioma stem cell cultures.
Chambwe N et al.
Scientific Reports, 2025
Cellular heterogeneity and therapeutic response profiling of human IDH+ glioma stem cell cultures.
Chambwe N et al.
Biorxiv : the Preprint Server for Biology, 2025
Atypical Manifestations of Cowden Syndrome in Pediatric Patients.
Zelenova E et al.
Diagnostics (basel, Switzerland), 2025
Comprehensive computational analysis of deleterious nsSNPs in PTEN gene for structural and functional insights.
Sharma D et al.
Molecular Biology Research Communications, 2025
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
Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.
Shah SM et al.
Cancer Research Communications, 2024
Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.
Serebriiskii IG et al.
Npj Genomic Medicine, 2023
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 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
A scalable Drosophila assay for clinical interpretation of human PTEN variants in suppression of PI3K/AKT induced cellular proliferation.
Ganguly P et al.
Plos Genetics, 2021
Distinguishing between PTEN clinical phenotypes through mutation analysis.
Portelli S et al.
Computational and Structural Biotechnology Journal, 2021
Significance of P16INK4A Expression and PTEN Loss of Heterozygosity in Human Papilloma Virus-related Oral Squamous Cell Carcinoma.
DE Jesus Oliveira Kato V et al.
Anticancer Research, 2020
Prediction of functionally significant single nucleotide polymorphisms in PTEN tumor suppressor gene: An in silico approach.
Khan I et al.
Biotechnology and Applied Biochemistry, 2017
PTENpred: A Designer Protein Impact Predictor for PTEN-related Disorders.
Johnston SB et al.
Journal of Computational Biology : a Journal of Computational Molecular Cell Biology, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.
de Leng WW et al.
Plos One, 2016
Prediction and Analysis of Breast Cancer Related Deleterious Non-Synonymous Single Nucleotide Polymorphisms in the PTEN Gene.
Naidu CK et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2016
Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.
Yakubov E et al.
Oncoscience, 2016
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
Spinelli L et al.
Journal of Medical Genetics, 2015
High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.
Masaki T et al.
Pigment Cell & Melanoma Research, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
A new insight into structural and functional impact of single-nucleotide polymorphisms in PTEN gene.
George Priya Doss C et al.
Cell Biochemistry and Biophysics, 2013
Cowden syndrome: a critical review of the clinical literature.
Pilarski R
Journal of Genetic Counseling, 2009
Germline PTEN mutations in Cowden syndrome-like families.
Marsh DJ et al.
Journal of Medical Genetics, 1998