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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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