Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.K254R
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PTEN

NM_000314.8:p.K254R

Associated Papers

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

PTEN-mediated dephosphorylation of 53BP1 confers cellular resistance to DNA damage in cancer cells.

He J et al.

Molecular Oncology, 2024

Sumoylation and phosphorylation of PTEN boosts and curtails autophagy respectively by influencing cell membrane localisation.

De D et al.

Experimental Cell Research, 2024

Molecular dynamic simulation and functional analysis of pathogenic PTEN mutations in glioblastoma.

Cetintas VB et al.

Journal of Biomolecular Structure & Dynamics, 2023

TRIM25 activates AKT/mTOR by inhibiting PTEN via K63-linked polyubiquitination in non-small cell lung cancer.

He YM et al.

Acta Pharmacologica Sinica, 2022

Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.

Hoefflin R et al.

Cancers, 2021

33800365 (PubMed )
Supplement: cancers-13-01151-s001.zip › Supplementary_Data_1.xlsx › S_Data_1

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

The Loss of Nuclear PTEN Increases Tumorigenesis in a Preclinical Mouse Model for Hepatocellular Carcinoma.

Kato T et al.

Iscience, 2020

33083717 (PubMed )
Supplement: mmc1.pdf

PTEN Nuclear Functions.

Ho J et al.

Cold Spring Harbor Perspectives in Medicine, 2020

The Impact of Genetic Variants on PTEN Molecular Functions and Cellular Phenotypes.

Hasle N et al.

Cold Spring Harbor Perspectives in Medicine, 2019

Loss of PTEN Accelerates NKX3.1 Degradation to Promote Prostate Cancer Progression.

Bowen C et al.

Cancer Research, 2019

Inhibition of Nuclear PTEN Tyrosine Phosphorylation Enhances Glioma Radiation Sensitivity through Attenuated DNA Repair.

Ma J et al.

Cancer Cell, 2019

Nuclear PTEN enhances the maturation of a microRNA regulon to limit MyD88-dependent susceptibility to sepsis.

Sisti F et al.

Science Signaling, 2018

Characterization of PTEN mutations in brain cancer reveals that pten mono-ubiquitination promotes protein stability and nuclear localization.

Yang JM et al.

Oncogene, 2017

28263967 (PubMed )
Supplement: onc2016493x1.pdf

Nuclear PTEN interferes with binding of Ku70 at double-strand breaks through post-translational poly(ADP-ribosyl)ation.

Guan J et al.

Biochimica Et Biophysica Acta, 2016

The PTEN phosphatase functions cooperatively with the Fanconi anemia proteins in DNA crosslink repair.

Vuono EA et al.

Scientific Reports, 2016

Opening the conformation is a master switch for the dual localization and phosphatase activity of PTEN.

Nguyen HN et al.

Scientific Reports, 2015

Characterization of nuclear PTEN and its post translational modifications.

Ho J et al.

Methods (san Diego, Calif.), 2015

PIASxα ligase enhances SUMO1 modification of PTEN protein as a SUMO E3 ligase.

Wang W et al.

The Journal of Biological Chemistry, 2014

Nuclear PTEN controls DNA repair and sensitivity to genotoxic stress.

Bassi C et al.

Science (new York, N.y.), 2013

SUMO1 modification of PTEN regulates tumorigenesis by controlling its association with the plasma membrane.

Huang J et al.

Nature Communications, 2012

Both phosphorylation and phosphatase activity of PTEN are required to prevent replication fork progression during stress by inducing heterochromatin.

Misra S et al.

Mutation Research, 0

The Nuclear Face of PTEN: Implications in Cancer Prognosis and Targeted Therapy.

Ghosh MK et al.

Biofactors (oxford, England), 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."