Associated Papers
Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome.
Yavuz BR et al.
Npj Genomic Medicine, 2023
Neurodevelopmental disorders and cancer networks share pathways; but differ in mechanisms, signaling strength, and outcome.
Yavuz BR et al.
Biorxiv : the Preprint Server for Biology, 2023
Nuclear PTEN's Functions in Suppressing Tumorigenesis: Implications for Rare Cancers.
Langdon CG
Biomolecules, 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
Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.
Gutierrez-Rodrigues F et al.
Haematologica, 2022
mTOR-Dependent Spine Dynamics in Autism.
Chaudry S et al.
Frontiers in Molecular Neuroscience, 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
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
Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.
Hong TH et al.
Journal for Immunotherapy of Cancer, 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
Biophysical simulations and structure-based modeling of residue interaction networks in the tumor suppressor proteins reveal functional role of cancer mutation hotspots in molecular communication.
Verkhivker GM
Biochimica Et Biophysica Acta. General Subjects, 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
Multiplex assessment of protein variant abundance by massively parallel sequencing.
Matreyek KA et al.
Nature Genetics, 2018
A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.
Hansen-Kiss E et al.
Journal of Medical Genetics, 2017
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
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
Varga EA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009