Publications:

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

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: PTEN: E157G

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 6
• Table3.xlsx, sheet 1

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mTOR-Dependent Spine Dynamics in Autism.

Frontiers In Molecular Neuroscience

Chaudry, Shabani S; Vasudevan, Nandini N

Publication Date: 2022

Variant appearance in text: PTEN: E157G

PubMed Link: 35782388

Variant Present in the following documents:

• Main text
• fnmol-15-877609.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: E157G

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: E157G

PubMed Link: 33077514

Variant Present in the following documents:

• jitc-2020-001199supp002.pdf

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Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Nature Communications

Post, Kathryn L KL; Belmadani, Manuel M; Ganguly, Payel P; Meili, Fabian F; Dingwall, Riki R; McDiarmid, Troy A TA; Meyers, Warren M WM; Herrington, Caitlin C; Young, Barry P BP; Callaghan, Daniel B DB; Rogic, Sanja S; Edwards, Matthew M; Niciforovic, Ana A; Cau, Alessandro A; Rankin, Catharine H CH; O'Connor, Timothy P TP; Bamji, Shernaz X SX; Loewen, Christopher J R CJR; Allan, Douglas W DW; Pavlidis, Paul P; Haas, Kurt K

Publication Date: 2020-04-29

Variant appearance in text: PTEN: E157G

PubMed Link: 32350270

Variant Present in the following documents:

• Main text
• 41467_2020_Article_15943.pdf

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Autism-associated PTEN missense mutation leads to enhanced nuclear localization and neurite outgrowth in an induced pluripotent stem cell line.

The Febs Journal

Wong, Chi Wai CW; Wang, Yubing Y; Liu, Tian T; Li, Lisha L; Cheung, Stanley Kwok Kuen SKK; Or, Penelope Mei-Yu PM; Cheng, Alfred Sze-Lok AS; Choy, Kwong Wai KW; Burbach, Johannes Peter Henri JPH; Feng, Bo B; Chang, Raymond Chuen Chung RCC; Chan, Andrew M AM

Publication Date: 2020-11

Variant appearance in text: PTEN: E157G

PubMed Link: 32150788

Variant Present in the following documents:

• Main text
• FEBS-287-4848.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: E157G

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: PTEN: E157G

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Conformational stability and catalytic activity of PTEN variants linked to cancers and autism spectrum disorders.

Biochemistry

Johnston, Sean B SB; Raines, Ronald T RT

Publication Date: 2015-02-24

Variant appearance in text: PTEN: E157G

PubMed Link: 25647146

Variant Present in the following documents:

• Main text

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

Journal Of Medical Genetics

Spinelli, Laura L; Black, Fiona M FM; Berg, Jonathan N JN; Eickholt, Britta J BJ; Leslie, Nicholas R NR

Publication Date: 2015-02

Variant appearance in text: PTEN: 470A>G

PubMed Link: 25527629

Variant Present in the following documents:

• Main text
• jmedgenet-2014-102803-s1.pdf
• jmedgenet-2014-102803.pdf

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Subcellular targeting and dynamic regulation of PTEN: implications for neuronal cells and neurological disorders.

Frontiers In Molecular Neuroscience

Kreis, Patricia P; Leondaritis, George G; Lieberam, Ivo I; Eickholt, Britta J BJ

Publication Date: 2014

Variant appearance in text: PTEN: E157G

PubMed Link: 24744697

Variant Present in the following documents:

• Main text
• fnmol-07-00023.pdf

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