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
Targeted next-generation sequencing of EUS-guided through-the-needle-biopsy sampling from pancreatic cystic lesions.
Rift CV et al.
Gastrointestinal Endoscopy, 2023
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
Treatment of Immune Dysregulation Due to a PTEN Variant with Sirolimus.
Emerson JS et al.
Journal of Clinical Immunology, 2021
Mutation-specific non-canonical pathway of PTEN as a distinct therapeutic target for glioblastoma.
Choi SW et al.
Cell Death & Disease, 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
Controlling PTEN (Phosphatase and Tensin Homolog) Stability: A DOMINANT ROLE FOR LYSINE 66.
Gupta A et al.
The Journal of Biological Chemistry, 2016
The parvalbumin/somatostatin ratio is increased in Pten mutant mice and by human PTEN ASD alleles.
Vogt D et al.
Cell Reports, 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
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.
Orrico A et al.
Clinical Genetics, 2009