Publications:

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A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.

Biomolecules

Maharjan, Dhruba Tara DT; Song, Weichen W; Liu, Zhe Z; Wang, Weidi W; Cai, Wenxiang W; Chen, Jue J; Xu, Fei F; Ying, Weihai W; Lin, Guan Ning GN

Publication Date: 2022-11-06

Variant appearance in text: PTEN: K62R

PubMed Link: 36358993

Variant Present in the following documents:

• biomolecules-12-01643.pdf

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: PTEN: K62R

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.

Journal For Immunotherapy Of Cancer

Hong, Tae Hee TH; Cha, Hongui H; Shim, Joon Ho JH; Lee, Boram B; Chung, Jongsuk J; Lee, Chung C; Kim, Nayoung K D NKD; Choi, Yoon-La YL; Hwang, Soohyun S; Lee, Yoomi Y; Park, Sehhoon S; Jung, Hyun Ae HA; Kim, Ji-Yeon JY; Park, Yeon Hee YH; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Lee, Se-Hoon SH; Park, Woong-Yang WY

Publication Date: 2020-10

Variant appearance in text: PTEN: K62R

PubMed Link: 33077514

Variant Present in the following documents:

• jitc-2020-001199supp002.pdf

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: PTEN: K62R

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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

The Journal Of Clinical Investigation

Yehia, Lamis L; Ngeow, Joanne J; Eng, Charis C

Publication Date: 2019-02-01

Variant appearance in text: PTEN: Lys62Arg

PubMed Link: 30614812

Variant Present in the following documents:

• Main text

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Effects of proteasome inhibitor MG-132 on the parasite Schistosoma mansoni.

Plos One

Morais, Enyara R ER; Oliveira, Katia C KC; Paula, Renato G de RG; Ornelas, Alice M M AMM; Moreira, Érika B C ÉBC; Badoco, Fernanda Rafacho FR; Magalhães, Lizandra G LG; Verjovski-Almeida, Sergio S; Rodrigues, Vanderlei V

Publication Date: 2017

Variant appearance in text: PTEN: K62R

PubMed Link: 28898250

Variant Present in the following documents:

• pone.0184192.s004.xlsx, sheet 1

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One-Tube-Only Standardized Site-Directed Mutagenesis: An Alternative Approach to Generate Amino Acid Substitution Collections.

Plos One

Mingo, Janire J; Erramuzpe, Asier A; Luna, Sandra S; Aurtenetxe, Olaia O; Amo, Laura L; Diez, Ibai I; Schepens, Jan T G JT; Hendriks, Wiljan J A J WJ; Cortés, Jesús M JM; Pulido, Rafael R

Publication Date: 2016

Variant appearance in text: PTEN: K62R

PubMed Link: 27548698

Variant Present in the following documents:

• Main text

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

Molecular Psychiatry

Tilot, A K AK; Bebek, G G; Niazi, F F; Altemus, J B JB; Romigh, T T; Frazier, T W TW; Eng, C C

Publication Date: 2016-01

Variant appearance in text: PTEN: K62R

PubMed Link: 25754085

Variant Present in the following documents:

• Main text
• nihms654370.pdf

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Germline disruption of Pten localization causes enhanced sex-dependent social motivation and increased glial production.

Human Molecular Genetics

Tilot, Amanda K AK; Gaugler, Mary K MK; Yu, Qi Q; Romigh, Todd T; Yu, Wanfeng W; Miller, Robert H RH; Frazier, Thomas W TW; Eng, Charis C

Publication Date: 2014-06-15

Variant appearance in text: PTEN: K62R

PubMed Link: 24470394

Variant Present in the following documents:

• Main text

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Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.

Cancer Research

He, Xin X; Arrotta, Nicholas N; Radhakrishnan, Deepa D; Wang, Yu Y; Romigh, Todd T; Eng, Charis C

Publication Date: 2013-05-15

Variant appearance in text: PTEN: K62R

PubMed Link: 23475934

Variant Present in the following documents:

• Main text

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: PTEN: K62R

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53.

Human Molecular Genetics

He, Xin X; Ni, Ying Y; Wang, Yu Y; Romigh, Todd T; Eng, Charis C

Publication Date: 2011-01-01

Variant appearance in text: PTEN: K62R

PubMed Link: 20926450

Variant Present in the following documents:

• Main text
• supp_ddq434_ddq434supp.pdf
• ddq434.pdf

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Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function.

Human Molecular Genetics

Lobo, Glenn P GP; Waite, Kristin A KA; Planchon, Sarah M SM; Romigh, Todd T; Nassif, Najah T NT; Eng, Charis C

Publication Date: 2009-08-01

Variant appearance in text: PTEN: K62R

PubMed Link: 19457929

Variant Present in the following documents:

• Main text
• ddp220.pdf
• ddp220_1.pdf

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