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- W4385451792 endingPage "e0289369" @default.
- W4385451792 startingPage "e0289369" @default.
- W4385451792 abstract "PTEN is a major tumor suppressor gene frequently mutated in human tumors, and germline PTEN gene mutations are the molecular diagnostic of PTEN Hamartoma Tumor Syndrome (PHTS), a heterogeneous disorder that manifests with multiple hamartomas, cancer predisposition, and neurodevelopmental alterations. A diversity of translational and splicing PTEN isoforms exist, as well as PTEN C-terminal truncated variants generated by disease-associated nonsense mutations. However, most of the available anti-PTEN monoclonal antibodies (mAb) recognize epitopes at the PTEN C-terminal tail, which may introduce a bias in the analysis of the expression of PTEN isoforms and variants. We here describe the generation and precise characterization of anti-PTEN mAb recognizing the PTEN C2-domain, and their use to monitor the expression and function of PTEN isoforms and PTEN missense and nonsense mutations associated to disease. These anti-PTEN C2 domain mAb are suitable to study the pathogenicity of PTEN C-terminal truncations that retain stability and function but have lost the PTEN C-terminal epitopes. The use of well-defined anti-PTEN mAb recognizing distinct PTEN regions, as the ones here described, will help to understand the deleterious effects of specific PTEN mutations in human disease." @default.
- W4385451792 created "2023-08-02" @default.
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- W4385451792 date "2023-08-01" @default.
- W4385451792 modified "2023-10-16" @default.
- W4385451792 title "Novel anti-PTEN C2 domain monoclonal antibodies to analyse the expression and function of PTEN isoform variants" @default.
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- W4385451792 doi "https://doi.org/10.1371/journal.pone.0289369" @default.
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