Associated Papers
Cancer and disease profiles for PTEN pathogenic variants in Japanese population.
Kanazashi Y et al.
Journal of Human Genetics, 2025
Utilizing TP53 hotspot mutations as effective predictors of gemcitabine treatment outcome in non-small-cell lung cancer.
Tseng YH et al.
Cell Death Discovery, 2025
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.
Dawood M et al.
Genome Medicine, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Mutation landscape in Chinese nodal diffuse large B-cell lymphoma by targeted next generation sequencing and their relationship with clinicopathological characteristics.
Cao B et al.
Bmc Medical Genomics, 2024
Classification of PTEN missense VUS through exascale simulations.
Sinha S et al.
Briefings in Bioinformatics, 2023
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational 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
Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.
Kaymakcalan H et al.
Molecular Genetics & Genomic Medicine, 2021
Autism-associated PTEN missense mutation leads to enhanced nuclear localization and neurite outgrowth in an induced pluripotent stem cell line.
Wong CW et al.
The Febs Journal, 2020
A Premalignant Cell-Based Model for Functionalization and Classification of PTEN Variants.
Chao JT et al.
Cancer Research, 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
Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.
Post KL et al.
Nature Communications, 2020
PTEN in Autism and Neurodevelopmental Disorders.
Rademacher S et al.
Cold Spring Harbor Perspectives in Medicine, 2019
PTEN gene mutations in patients with macrocephaly and classic autism: A systematic review.
Zahedi Abghari F et al.
Medical Journal of the Islamic Republic of Iran, 2019
The prognostic effects of somatic mutations in ER-positive breast cancer.
Griffith OL et al.
Nature Communications, 2018
PTEN proteoforms in biology and disease.
Malaney P et al.
Cellular and Molecular Life Sciences : Cmls, 2017
Mutations of KRAS/NRAS/BRAF predict cetuximab resistance in metastatic colorectal cancer patients.
Hsu HC et al.
Oncotarget, 2016
The parvalbumin/somatostatin ratio is increased in Pten mutant mice and by human PTEN ASD alleles.
Vogt D et al.
Cell Reports, 2015
Conformational stability and catalytic activity of PTEN variants linked to cancers and autism spectrum disorders.
Johnston SB et al.
Biochemistry, 2015
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
Spinelli L et al.
Journal of Medical Genetics, 2015
A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
Rodríguez-Escudero I et al.
Human Molecular Genetics, 2011
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
Pilarski R et al.
Journal of Medical Genetics, 2011
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.
Orrico A et al.
Clinical Genetics, 2009