Associated Papers
Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy.
L'Erario FF et al.
Genes, 2025
Comprehensive computational analysis of deleterious nsSNPs in PTEN gene for structural and functional insights.
Sharma D et al.
Molecular Biology Research Communications, 2025
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
Handling of Germline Findings in Clinical Comprehensive Cancer Genomic Profiling.
Okazawa-Sakai M et al.
Acta Medica Okayama, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 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
Circulating tumour DNA in metastatic breast cancer to guide clinical trial enrolment and precision oncology: A cohort study.
Zivanovic Bujak A et al.
Plos Medicine, 2020
Analyzing aggregation propensities of clinically relevant PTEN mutants: a new culprit in pathogenesis of cancer and other PTENopathies.
Palumbo E et al.
Journal of Biomolecular Structure & Dynamics, 2020
Predicting the Disease Risk of Protein Mutation Sequences With Pre-training Model.
Li K et al.
Frontiers in Genetics, 2020
PTENα regulates endocytosis and modulates olfactory function.
Yuan Y et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
Convergent genetic aberrations in murine and human T lineage acute lymphoblastic leukemias.
Huang BJ et al.
Plos Genetics, 2019
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
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
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
In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.
Andrés-Pons A et al.
Cancer Research, 2007
The relationship between microsatellite instability and PTEN gene mutations in endometrial cancer.
Bilbao C et al.
International Journal of Cancer, 2006
Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease.
Harada N et al.
Journal of Gastroenterology, 2003
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.
Nelen MR et al.
European Journal of Human Genetics : Ejhg, 1999
Inherited macrocephaly-hamartoma syndromes.
DiLiberti JH
American Journal of Medical Genetics, 1998