PTEN c.385G>C ;(p.G129R)

Variant ID: 10-89692901-G-C

NM_000314.4(PTEN):c.385G>C;(p.G129R)

This variant was identified in 88 publications

View GRCh38 version.




Publications:


Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: PTEN: G129R
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: PTEN: 385G>C; Gly129Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: PTEN: G129R
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



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

Cells
Dong, Lei L; Li, Yang Y; Liu, Liqun L; Meng, Xinyi X; Li, Shengzhen S; Han, Da D; Xiao, Zhenyu Z; Xia, Qin Q
Publication Date: 2022-10-20

Variant appearance in text: PTEN: G129R
PubMed Link: 36291166
Variant Present in the following documents:
  • Main text
  • cells-11-03302.pdf
View BVdb publication page



Genomic crossroads between non-Hodgkin's lymphoma and common variable immunodeficiency.

Frontiers In Immunology
Guevara-Hoyer, Kissy K; Fuentes-Antrás, Jesús J; de la Fuente-Muñoz, Eduardo E; Fernández-Arquero, Miguel M; Solano, Fernando F; Pérez-Segura, Pedro P; Neves, Esmeralda E; Ocaña, Alberto A; Pérez de Diego, Rebeca R; Sánchez-Ramón, Silvia S
Publication Date: 2022

Variant appearance in text: PTEN: G129R
PubMed Link: 35990641
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 2
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: PTEN: G129R
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Prognostic Value of Postoperative Circulating Tumor DNA in Patients With Early- and Intermediate-Stage Hepatocellular Carcinoma.

Frontiers In Oncology
Ye, Ke K; Fan, Qinqiao Q; Yuan, Mingming M; Wang, Dong D; Xiao, Liang L; Long, Guo G; Chen, Rongrong R; Fang, Tongdi T; Li, Zengbo Z; Zhou, Ledu L
Publication Date: 2022

Variant appearance in text: PTEN: 385G>C; G129R
PubMed Link: 35311090
Variant Present in the following documents:
  • Table_1.xlsx, sheet 3
View BVdb publication page



PTEN/PI3K/Akt pathway alters sensitivity of T-cell acute lymphoblastic leukemia to L-asparaginase.

Scientific Reports
Hlozkova, Katerina K; Hermanova, Ivana I; Safrhansova, Lucie L; Alquezar-Artieda, Natividad N; Kuzilkova, Daniela D; Vavrova, Adela A; Sperkova, Kristyna K; Zaliova, Marketa M; Stary, Jan J; Trka, Jan J; Starkova, Julia J
Publication Date: 2022-03-08

Variant appearance in text: PTEN: G129R
PubMed Link: 35260738
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_8049.pdf
View BVdb publication page



Clinical and Molecular Characteristics of Rare Malignant Tumors of Colon and Rectum.

Biology
Ottaiano, Alessandro A; Santorsola, Mariachiara M; Perri, Francesco F; Pace, Ugo U; Marra, Bruno B; Correra, Marco M; Sabbatino, Francesco F; Cascella, Marco M; Petrillo, Nadia N; Ianniello, Monica M; Casillo, Marika M; Misso, Gabriella G; Delrio, Paolo P; Caraglia, Michele M; Nasti, Guglielmo G
Publication Date: 2022-02-08

Variant appearance in text: PTEN: G129R
PubMed Link: 35205133
Variant Present in the following documents:
  • Main text
  • biology-11-00267.pdf
View BVdb publication page



Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology
Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE
Publication Date: 2022-06

Variant appearance in text: PTEN: G129R
PubMed Link: 35165384
Variant Present in the following documents:
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
  • NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
View BVdb publication page



Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene.

International Journal Of Molecular Sciences
Benussi, Luisa L; Longobardi, Antonio A; Kocoglu, Cemile C; Carrara, Matteo M; Bellini, Sonia S; Ferrari, Clarissa C; Nicsanu, Roland R; Saraceno, Claudia C; Bonvicini, Cristian C; Fostinelli, Silvia S; Zanardini, Roberta R; Catania, Marcella M; Moisse, Matthieu M; Van Damme, Philip P; Di Fede, Giuseppe G; Binetti, Giuliano G; Van Broeckhoven, Christine C; van der Zee, Julie J; Ghidoni, Roberta R
Publication Date: 2021-12-20

Variant appearance in text: PTEN: G129R
PubMed Link: 34948429
Variant Present in the following documents:
  • ijms-22-13633.pdf
View BVdb publication page



Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene.

International Journal Of Molecular Sciences
Benussi, Luisa L; Longobardi, Antonio A; Kocoglu, Cemile C; Carrara, Matteo M; Bellini, Sonia S; Ferrari, Clarissa C; Nicsanu, Roland R; Saraceno, Claudia C; Bonvicini, Cristian C; Fostinelli, Silvia S; Zanardini, Roberta R; Catania, Marcella M; Moisse, Matthieu M; Van Damme, Philip P; Di Fede, Giuseppe G; Binetti, Giuliano G; Van Broeckhoven, Christine C; van der Zee, Julie J; Ghidoni, Roberta R
Publication Date: 2021-12-20

Variant appearance in text: PTEN: G129R
PubMed Link: 34948429
Variant Present in the following documents:
  • ijms-22-13633.pdf
View BVdb publication page



Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers.

Genome Medicine
Matreyek, Kenneth A KA; Stephany, Jason J JJ; Ahler, Ethan E; Fowler, Douglas M DM
Publication Date: 2021-10-14

Variant appearance in text: PTEN: Gly129Arg
PubMed Link: 34649609
Variant Present in the following documents:
  • Main text
  • 13073_2021_Article_984.pdf
View BVdb publication page



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: G129R
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Postoperative circulating tumor DNA as markers of recurrence risk in stages II to III colorectal cancer.

Journal Of Hematology & Oncology
Chen, Gong G; Peng, Junjie J; Xiao, Qian Q; Wu, Hao-Xiang HX; Wu, Xiaojun X; Wang, Fulong F; Li, Liren L; Ding, Peirong P; Zhao, Qi Q; Li, Yaqi Y; Wang, Da D; Shao, Yang Y; Bao, Hua H; Pan, Zhizhong Z; Ding, Ke-Feng KF; Cai, Sanjun S; Wang, Feng F; Xu, Rui-Hua RH
Publication Date: 2021-05-17

Variant appearance in text: PTEN: G129R
PubMed Link: 34001194
Variant Present in the following documents:
  • 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



PTEN deficiency leads to proteasome addiction: a novel vulnerability in glioblastoma.

Neuro-Oncology
Benitez, Jorge A JA; Finlay, Darren D; Castanza, Anthony A; Parisian, Alison D AD; Ma, Jianhui J; Longobardi, Ciro C; Campos, Alex A; Vadla, Raghavendra R; Izurieta, Alejandro A; Scerra, Gianluca G; Koga, Tomoyuki T; Long, Tao T; Chavez, Lukas L; Mesirov, Jill P JP; Vuori, Kristiina K; Furnari, Frank F
Publication Date: 2021-07-01

Variant appearance in text: PTEN: G129R
PubMed Link: 33428749
Variant Present in the following documents:
  • Main text
View BVdb publication page



Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population.

Plos One
Saadeh, Fadi S FS; Morsi, Rami Z RZ; El-Kurdi, Abdallah A; Nemer, Georges G; Mahfouz, Rami R; Charafeddine, Maya M; Khoury, Jessica J; Najjar, Marwan W MW; Khoueiry, Pierre P; Assi, Hazem I HI
Publication Date: 2020

Variant appearance in text: PTEN: G129R; rs786204929
PubMed Link: 33237934
Variant Present in the following documents:
  • pone.0242793.s003.xlsx, sheet 1
View BVdb publication page



Molecular events in the pathogenesis of vulvar squamous cell carcinoma.

Seminars In Diagnostic Pathology
Xing, Deyin D; Fadare, Oluwole O
Publication Date: 2021-01

Variant appearance in text: PTEN: Gly129Arg
PubMed Link: 33032902
Variant Present in the following documents:
  • Main text
View BVdb publication page



Paired tumor sequencing and germline testing in breast cancer management: An experience of a single academic center.

Cancer Reports (Hoboken, N.J.)
Elliott, Elizabeth E; Speare, Virginia V; Coggan, James J; Espenschied, Carin C; LaDuca, Holly H; Yussuf, Amal F AF; Burgess, Kelly K; Gray, Phillip P; Cobleigh, Melody M; Rao, Ruta R; Patel, Jeremy J; Kuzel, Timothy T; Buckingham, Lela E LE; Usha, Lydia L
Publication Date: 2020-12

Variant appearance in text: PTEN: G129R
PubMed Link: 32881420
Variant Present in the following documents:
  • CNR2-3-e1287-s001.pdf
View BVdb publication page



The Clinical Significance of RAS, PIK3CA, and PTEN Mutations in Non-Small Cell Lung Cancer Using Cell-Free DNA.

Journal Of Clinical Medicine
Chang, Won Jin WJ; Sung, Jae Sook JS; Lee, Sung Yong SY; Kang, Eun Joo EJ; Kwon, Nak-Jung NJ; Kim, Hae Mi HM; Shin, Sang Won SW; Choi, Jung Yoon JY; Choi, Yoon Ji YJ; Kim, Ju Won JW; Park, Kyong Hwa KH; Kim, Yeul Hong YH
Publication Date: 2020-08-14

Variant appearance in text: PTEN: G129R
PubMed Link: 32823871
Variant Present in the following documents:
  • jcm-09-02642-s001.pdf
View BVdb publication page



Sentinel interaction mapping - a generic approach for the functional analysis of human disease gene variants using yeast.

Disease Models & Mechanisms
Young, Barry P BP; Post, Kathryn L KL; Chao, Jesse T JT; Meili, Fabian F; Haas, Kurt K; Loewen, Christopher C
Publication Date: 2020-07-08

Variant appearance in text: PTEN: G129R
PubMed Link: 32471850
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: G129R
PubMed Link: 32350270
Variant Present in the following documents:
  • 41467_2020_Article_15943.pdf
View BVdb publication page



Demeclocycline Reduces the Growth of Human Brain Tumor-Initiating Cells: Direct Activity and Through Monocytes.

Frontiers In Immunology
Sarkar, Susobhan S; Li, Yibo Y; Mirzaei, Reza R; Rawji, Khalil S KS; Poon, Candice C CC; Wang, Jianxiong J; Kumar, Mehul M; Bose, Pinaki P; Yong, V Wee VW
Publication Date: 2020

Variant appearance in text: PTEN: G129R
PubMed Link: 32153581
Variant Present in the following documents:
  • Main text
  • fimmu-11-00272.pdf
View BVdb publication page



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: G129R
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Transcriptional Regulation of Energy Metabolism in Cancer Cells.

Cells
Rodríguez-Enríquez, Sara S; Marín-Hernández, Álvaro Á; Gallardo-Pérez, Juan Carlos JC; Pacheco-Velázquez, Silvia Cecilia SC; Belmont-Díaz, Javier Alejandro JA; Robledo-Cadena, Diana Xochiquetzal DX; Vargas-Navarro, Jorge Luis JL; Corona de la Peña, Norma Angélica NA; Saavedra, Emma E; Moreno-Sánchez, Rafael R
Publication Date: 2019-10-09

Variant appearance in text: PTEN: G129R
PubMed Link: 31600993
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analytical and Clinical Validation of Expressed Variants and Fusions From the Whole Transcriptome of Thyroid FNA Samples.

Frontiers In Endocrinology
Angell, Trevor E TE; Wirth, Lori J LJ; Cabanillas, Maria E ME; Shindo, Maisie L ML; Cibas, Edmund S ES; Babiarz, Joshua E JE; Hao, Yangyang Y; Kim, Su Yeon SY; Walsh, P Sean PS; Huang, Jing J; Kloos, Richard T RT; Kennedy, Giulia C GC; Waguespack, Steven G SG
Publication Date: 2019

Variant appearance in text: PTEN: G129R
PubMed Link: 31572297
Variant Present in the following documents:
  • Main text
  • fendo-10-00612.pdf
View BVdb publication page



Identification of the PTEN-ARID4B-PI3K pathway reveals the dependency on ARID4B by PTEN-deficient prostate cancer.

Nature Communications
Wu, Ray-Chang RC; Young, In-Chi IC; Chen, Yu-Fang YF; Chuang, Sung-Ting ST; Toubaji, Antoun A; Wu, Mei-Yi MY
Publication Date: 2019-09-24

Variant appearance in text: PTEN: G129R
PubMed Link: 31551414
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Cold Spring Harbor Perspectives In Medicine
Hasle, Nicholas N; Matreyek, Kenneth A KA; Fowler, Douglas M DM
Publication Date: 2019-11-01

Variant appearance in text: PTEN: G129R
PubMed Link: 31451538
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recurrent genetic alterations and biomarker expression in primary and metastatic squamous cell carcinomas of the vulva.

Human Pathology
Xing, Deyin D; Liu, Yuehua Y; Park, Hyeon Jin HJ; Baek, Inji I; Tran, Hung H; Cheang, Gloria G; Novo, Jorge J; Dillon, Jessica J; Matoso, Andres A; Farmer, Emily E; Cheng, Max A MA; Tsai, Ya-Chea YC; Lombardo, Kara K; Conner, Michael G MG; Vang, Russell R; Hung, Chien-Fu CF; Wu, Tzyy-Choou TC; Song, Wei W
Publication Date: 2019-10

Variant appearance in text: PTEN: Gly129Arg
PubMed Link: 31437519
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Cancer Cell
Ma, Jianhui J; Benitez, Jorge A JA; Li, Jie J; Miki, Shunichiro S; Ponte de Albuquerque, Claudio C; Galatro, Thais T; Orellana, Laura L; Zanca, Ciro C; Reed, Rachel R; Boyer, Antonia A; Koga, Tomoyuki T; Varki, Nissi M NM; Fenton, Tim R TR; Nagahashi Marie, Suely Kazue SK; Lindahl, Erik E; Gahman, Timothy C TC; Shiau, Andrew K AK; Zhou, Huilin H; DeGroot, John J; Sulman, Erik P EP; Cavenee, Webster K WK; Kolodner, Richard D RD; Chen, Clark C CC; Furnari, Frank B FB
Publication Date: 2019-05-13

Variant appearance in text: PTEN: G129R
PubMed Link: 31085179
Variant Present in the following documents:
  • Main text
View BVdb publication page



Restoration of tumour-growth suppression in vivo via systemic nanoparticle-mediated delivery of PTEN mRNA.

Nature Biomedical Engineering
Islam, Mohammad Ariful MA; Xu, Yingjie Y; Tao, Wei W; Ubellacker, Jessalyn M JM; Lim, Michael M; Aum, Daniel D; Lee, Gha Young GY; Zhou, Kun K; Zope, Harshal H; Yu, Mikyung M; Cao, Wuji W; Oswald, James Trevor JT; Dinarvand, Meshkat M; Mahmoudi, Morteza M; Langer, Robert R; Kantoff, Philip W PW; Farokhzad, Omid C OC; Zetter, Bruce R BR; Shi, Jinjun J
Publication Date: 2018-11

Variant appearance in text: PTEN: G129R
PubMed Link: 31015614
Variant Present in the following documents:
  • Main text
  • nihms-1502267.pdf
View BVdb publication page



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

Cancer Cell
Ma, Jianhui J; Benitez, Jorge A JA; Li, Jie J; Miki, Shunichiro S; Ponte de Albuquerque, Claudio C; Galatro, Thais T; Orellana, Laura L; Zanca, Ciro C; Reed, Rachel R; Boyer, Antonia A; Koga, Tomoyuki T; Varki, Nissi M NM; Fenton, Tim R TR; Nagahashi Marie, Suely Kazue SK; Lindahl, Erik E; Gahman, Timothy C TC; Shiau, Andrew K AK; Zhou, Huilin H; DeGroot, John J; Sulman, Erik P EP; Cavenee, Webster K WK; Kolodner, Richard D RD; Chen, Clark C CC; Furnari, Frank B FB
Publication Date: 2019-03-18

Variant appearance in text: PTEN: G129R
PubMed Link: 30827889
Variant Present in the following documents:
  • Main text
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: PTEN: G129R
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



PTEN is a protein phosphatase that targets active PTK6 and inhibits PTK6 oncogenic signaling in prostate cancer.

Nature Communications
Wozniak, Darren J DJ; Kajdacsy-Balla, Andre A; Macias, Virgilia V; Ball-Kell, Susan S; Zenner, Morgan L ML; Bie, Wenjun W; Tyner, Angela L AL
Publication Date: 2017-11-15

Variant appearance in text: PTEN: G129R
PubMed Link: 29142193
Variant Present in the following documents:
  • Main text
  • 41467_2017_Article_1574.pdf
  • 41467_2017_1574_MOESM1_ESM.pdf
  • 41467_2017_1574_MOESM2_ESM.pdf
View BVdb publication page



Loss of FOXO1 Cooperates with TMPRSS2-ERG Overexpression to Promote Prostate Tumorigenesis and Cell Invasion.

Cancer Research
Yang, Yinhui Y; Blee, Alexandra M AM; Wang, Dejie D; An, Jian J; Pan, Yunqian Y; Yan, Yuqian Y; Ma, Tao T; He, Yundong Y; Dugdale, Joseph J; Hou, Xiaonan X; Zhang, Jun J; Weroha, S John SJ; Zhu, Wei-Guo WG; Wang, Y Alan YA; DePinho, Ronald A RA; Xu, Wanhai W; Huang, Haojie H
Publication Date: 2017-12-01

Variant appearance in text: PTEN: G129R
PubMed Link: 28986382
Variant Present in the following documents:
  • Main text
View BVdb publication page



PTEN regulates glioblastoma oncogenesis through chromatin-associated complexes of DAXX and histone H3.3.

Nature Communications
Benitez, Jorge A JA; Ma, Jianhui J; D'Antonio, Matteo M; Boyer, Antonia A; Camargo, Maria Fernanda MF; Zanca, Ciro C; Kelly, Stephen S; Khodadadi-Jamayran, Alireza A; Jameson, Nathan M NM; Andersen, Michael M; Miletic, Hrvoje H; Saberi, Shahram S; Frazer, Kelly A KA; Cavenee, Webster K WK; Furnari, Frank B FB
Publication Date: 2017-05-12

Variant appearance in text: PTEN: G129R
PubMed Link: 28497778
Variant Present in the following documents:
  • Main text
  • ncomms15223-s1.pdf
  • ncomms15223.pdf
View BVdb publication page



Autophagy as an emerging therapy target for ovarian carcinoma.

Oncotarget
Zhan, Lei L; Zhang, Yu Y; Wang, Wenyan W; Song, Enxue E; Fan, Yijun Y; Li, Jun J; Wei, Bing B
Publication Date: 2016-12-13

Variant appearance in text: PTEN: G129R
PubMed Link: 27825125
Variant Present in the following documents:
  • Main text
  • oncotarget-07-83476.pdf
View BVdb publication page



Structural mutation analysis of PTEN and its genotype-phenotype correlations in endometriosis and cancer.

Proteins
Smith, Iris N IN; Briggs, James M JM
Publication Date: 2016-11

Variant appearance in text: PTEN: G129R
PubMed Link: 27481051
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutational analysis of single circulating tumor cells by next generation sequencing in metastatic breast cancer.

Oncotarget
De Luca, Francesca F; Rotunno, Giada G; Salvianti, Francesca F; Galardi, Francesca F; Pestrin, Marta M; Gabellini, Stefano S; Simi, Lisa L; Mancini, Irene I; Vannucchi, Alessandro Maria AM; Pazzagli, Mario M; Di Leo, Angelo A; Pinzani, Pamela P
Publication Date: 2016-05-03

Variant appearance in text: PTEN: G129R
PubMed Link: 27034166
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nuclear PTEN functions as an essential regulator of SRF-dependent transcription to control smooth muscle differentiation.

Nature Communications
Horita, Henrick H; Wysoczynski, Christina L CL; Walker, Lori A LA; Moulton, Karen S KS; Li, Marcella M; Ostriker, Allison A; Tucker, Rebecca R; McKinsey, Timothy A TA; Churchill, Mair E A ME; Nemenoff, Raphael A RA; Weiser-Evans, Mary C M MC
Publication Date: 2016-03-04

Variant appearance in text: PTEN: G129R
PubMed Link: 26940659
Variant Present in the following documents:
  • Main text
View BVdb publication page



Differential Requirement for Pten Lipid and Protein Phosphatase Activity during Zebrafish Embryonic Development.

Plos One
Stumpf, Miriam M; den Hertog, Jeroen J
Publication Date: 2016

Variant appearance in text: PTEN: G129R
PubMed Link: 26848951
Variant Present in the following documents:
  • Main text
  • pone.0148508.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: PTEN: G129R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
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Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma.

Nature Communications
Seki, Masafumi M; Nishimura, Riki R; Yoshida, Kenichi K; Shimamura, Teppei T; Shiraishi, Yuichi Y; Sato, Yusuke Y; Kato, Motohiro M; Chiba, Kenichi K; Tanaka, Hiroko H; Hoshino, Noriko N; Nagae, Genta G; Shiozawa, Yusuke Y; Okuno, Yusuke Y; Hosoi, Hajime H; Tanaka, Yukichi Y; Okita, Hajime H; Miyachi, Mitsuru M; Souzaki, Ryota R; Taguchi, Tomoaki T; Koh, Katsuyoshi K; Hanada, Ryoji R; Kato, Keisuke K; Nomura, Yuko Y; Akiyama, Masaharu M; Oka, Akira A; Igarashi, Takashi T; Miyano, Satoru S; Aburatani, Hiroyuki H; Hayashi, Yasuhide Y; Ogawa, Seishi S; Takita, Junko J
Publication Date: 2015-07-03

Variant appearance in text: PTEN: G129R
PubMed Link: 26138366
Variant Present in the following documents:
  • Main text
  • ncomms8557-s3.xlsx, sheet 1
  • ncomms8557-s5.xlsx, sheet 1
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Relevance and therapeutic possibility of PTEN-long in renal cell carcinoma.

Plos One
Wang, Hui H; Zhang, Peng P; Lin, Chunhua C; Yu, Qingxia Q; Wu, Jitao J; Wang, Lin L; Cui, Yupeng Y; Wang, Ke K; Gao, Zhenli Z; Li, Hong H
Publication Date: 2015

Variant appearance in text: PTEN: G129R
PubMed Link: 25714556
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: G129R
PubMed Link: 25527629
Variant Present in the following documents:
  • Main text
  • jmedgenet-2014-102803.pdf
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Mutational profiling of kinases in glioblastoma.

Bmc Cancer
Bleeker, Fonnet E FE; Lamba, Simona S; Zanon, Carlo C; Molenaar, Remco J RJ; Hulsebos, Theo J M TJ; Troost, Dirk D; van Tilborg, Angela A AA; Vandertop, W Peter WP; Leenstra, Sieger S; van Noorden, Cornelis J F CJ; Bardelli, Alberto A
Publication Date: 2014-09-26

Variant appearance in text: PTEN: G129R
PubMed Link: 25256166
Variant Present in the following documents:
  • Main text
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Novel small molecule XPO1/CRM1 inhibitors induce nuclear accumulation of TP53, phosphorylated MAPK and apoptosis in human melanoma cells.

Plos One
Yang, Jennifer J; Bill, Matthew A MA; Young, Gregory S GS; La Perle, Krista K; Landesman, Yosef Y; Shacham, Sharon S; Kauffman, Michael M; Senapedis, William W; Kashyap, Trinayan T; Saint-Martin, Jean-Richard JR; Kendra, Kari K; Lesinski, Gregory B GB
Publication Date: 2014

Variant appearance in text: PTEN: G129R
PubMed Link: 25057921
Variant Present in the following documents:
  • Main text
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MDM2 regulates hypoxic hypoxia-inducible factor 1α stability in an E3 ligase, proteasome, and PTEN-phosphatidylinositol 3-kinase-AKT-dependent manner.

The Journal Of Biological Chemistry
Joshi, Shweta S; Singh, Alok R AR; Durden, Donald L DL
Publication Date: 2014-08-15

Variant appearance in text: PTEN: G129R
PubMed Link: 24982421
Variant Present in the following documents:
  • Main text
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Downregulation of FAP suppresses cell proliferation and metastasis through PTEN/PI3K/AKT and Ras-ERK signaling in oral squamous cell carcinoma.

Cell Death & Disease
Wang, H H; Wu, Q Q; Liu, Z Z; Luo, X X; Fan, Y Y; Liu, Y Y; Zhang, Y Y; Hua, S S; Fu, Q Q; Zhao, M M; Chen, Y Y; Fang, W W; Lv, X X
Publication Date: 2014-04-10

Variant appearance in text: PTEN: G129R
PubMed Link: 24722280
Variant Present in the following documents:
  • Main text
  • cddis2014122a.pdf
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Suppression of microRNA-9 by mutant EGFR signaling upregulates FOXP1 to enhance glioblastoma tumorigenicity.

Cancer Research
Gomez, German G GG; Volinia, Stefano S; Croce, Carlo M CM; Zanca, Ciro C; Li, Ming M; Emnett, Ryan R; Gutmann, David H DH; Brennan, Cameron W CW; Furnari, Frank B FB; Cavenee, Webster K WK
Publication Date: 2014-03-01

Variant appearance in text: PTEN: G129R
PubMed Link: 24436148
Variant Present in the following documents:
  • Main text
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Annotating cancer variants and anti-cancer therapeutics in reactome.

Cancers
Milacic, Marija M; Haw, Robin R; Rothfels, Karen K; Wu, Guanming G; Croft, David D; Hermjakob, Henning H; D'Eustachio, Peter P; Stein, Lincoln L
Publication Date: 2012-11-08

Variant appearance in text: PTEN: G129R
PubMed Link: 24213504
Variant Present in the following documents:
  • Main text
  • cancers-04-01180.pdf
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