Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.K289E
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PTEN

NM_000314.8:p.K289E

Associated Papers

Impaired nuclear PTEN function drives macrocephaly, lymphadenopathy and late-onset cancer in PTEN hamartoma tumour syndrome.

Tibarewal P et al.

Disease Models & Mechanisms, 2026

Cell-free DNA fragmentomics and second malignant neoplasm risk in patients with PTEN hamartoma tumor syndrome.

Liu D et al.

Cell Reports. Medicine, 2024

The E3 ubiquitin ligase CHIP drives monoubiquitylation-mediated nuclear import of the tumor suppressor PTEN.

Chakraborty S et al.

Journal of Cell Science, 2023

PTEN deficiency facilitates gemcitabine efficacy in cancer by modulating the phosphorylation of PP2Ac and DCK.

Jiang TY et al.

Science Translational Medicine, 2023

PTEN Deficiency Facilitates Exosome Secretion and Metastasis in Cholangiocarcinoma by Impairing TFEB-mediated Lysosome Biogenesis.

Jiang TY et al.

Gastroenterology, 2023

Nuclear PTEN's Functions in Suppressing Tumorigenesis: Implications for Rare Cancers.

Langdon CG

Biomolecules, 2023

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

Cetintas VB et al.

Journal of Biomolecular Structure & Dynamics, 2023

Novel anti-PTEN C2 domain monoclonal antibodies to analyse the expression and function of PTEN isoform variants.

Torices L et al.

Plos One, 2023

Smurf1 Suppression Enhances Temozolomide Chemosensitivity in Glioblastoma by Facilitating PTEN Nuclear Translocation.

Dong L et al.

Cells, 2022

Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

G V et al.

Frontiers in Genetics, 2022

36561320 (PubMed )
Supplement: Table3.xlsx › Sheet1

Aagab acts as a novel regulator of NEDD4-1-mediated Pten nuclear translocation to promote neurological recovery following hypoxic-ischemic brain damage.

Dai C et al.

Cell Death and Differentiation, 2021

Mutation-specific non-canonical pathway of PTEN as a distinct therapeutic target for glioblastoma.

Choi SW et al.

Cell Death & Disease, 2021

The Skin in Cowden Syndrome.

Lim A et al.

Frontiers in 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

Posttranslational Regulation and Conformational Plasticity of PTEN.

Kotelevets L et al.

Cold Spring Harbor Perspectives in 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

31232187 (PubMed )
Supplement: supplement_1.zip › Supplement_S4_mutants_nochange.xlsx › Mutants_no_change

PTEN in Hereditary and Sporadic Cancer.

Ngeow J et al.

Cold Spring Harbor Perspectives in Medicine, 2020

Role of Ubiquitination in PTEN Cellular Homeostasis and Its Implications in GB Drug Resistance.

Xia Q et al.

Frontiers in Oncology, 2020

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

Hasle N et al.

Cold Spring Harbor Perspectives in Medicine, 2019

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4

PTEN-opathies: from biological insights to evidence-based precision medicine.

Yehia L et al.

The Journal of Clinical Investigation, 2019

Disruption of protein function by pathogenic mutations: common and uncommon mechanisms 1.

Taipale M

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2019

Nuclear PTEN Localization Contributes to DNA Damage Response in Endometrial Adenocarcinoma and Could Have a Diagnostic Benefit for Therapeutic Management of the Disease.

Mukherjee A et al.

Molecular Cancer Therapeutics, 2018

Nuclear Excluded Autism-Associated Phosphatase and Tensin Homolog Mutations Dysregulate Neuronal Growth.

Fricano-Kugler CJ et al.

Biological Psychiatry, 2018

Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly.

Wong CW et al.

Autism Research : Official Journal of the International Society for Autism Research, 2018

65 YEARS OF THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: PTEN-opathies and precision medicine.

Yehia L et al.

Endocrine-related Cancer, 2018

Multiplex assessment of protein variant abundance by massively parallel sequencing.

Matreyek KA et al.

Nature Genetics, 2018

29785012 (PubMed )
Supplement: NIHMS956040-supplement-2.doc

A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.

Mighell TL et al.

American Journal of Human Genetics, 2018

PTEN: Tumor Suppressor and Metabolic Regulator.

Chen CY et al.

Frontiers in Endocrinology, 2018

The nuclear transport receptor Importin-11 is a tumor suppressor that maintains PTEN protein.

Chen M et al.

The Journal of Cell Biology, 2017

DJ-1 maintains energy and glucose homeostasis by regulating the function of brown adipose tissue.

Wu R et al.

Cell Discovery, 2017

28224045 (PubMed )
Supplement: celldisc201654-s1.pdf

PTEN regulates EG5 to control spindle architecture and chromosome congression during mitosis.

He J et al.

Nature Communications, 2016

The tumor suppressor PTEN has a critical role in antiviral innate immunity.

Li S et al.

Nature Immunology, 2016

Neural transcriptome of constitutional Pten dysfunction in mice and its relevance to human idiopathic autism spectrum disorder.

Tilot AK et al.

Molecular Psychiatry, 2016

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.

Kun-Rodrigues C et al.

Human Molecular Genetics, 2015

Molecular functions of NEDD4 E3 ubiquitin ligases in cancer.

Zou X et al.

Biochimica Et Biophysica Acta, 2015

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

Nguyen HN et al.

Scientific Reports, 2015

Protein monoubiquitylation: targets and diverse functions.

Nakagawa T et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2015

Analysis of PTEN ubiquitylation and SUMOylation using molecular traps.

Lang V et al.

Methods (san Diego, Calif.), 2015

Study of PTEN subcellular localization.

Bononi A et al.

Methods (san Diego, Calif.), 2015

Ndfip1 represses cell proliferation by controlling Pten localization and signaling specificity.

Howitt J et al.

Journal of Molecular Cell Biology, 2015

Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Spinelli L et al.

Journal of Medical Genetics, 2015

25527629 (PubMed )
Supplement: jmedgenet-2014-102803-s1.pdf

A biosensor to monitor dynamic regulation and function of tumour suppressor PTEN in living cells.

Lima-Fernandes E et al.

Nature Communications, 2014

Rab5 and Ndfip1 are involved in Pten ubiquitination and nuclear trafficking.

Li Y et al.

Traffic (copenhagen, Denmark), 2014

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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."