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Refinado por: Nome da Publicação: Nature Genetics remover assunto: Gene Mutations remover assunto: Risk Factors remover
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1
Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma
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Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma

Okosun, Jessica ; Bödör, Csaba ; Wang, Jun ; Araf, Shamzah ; Yang, Cheng-Yuan ; Pan, Chenyi ; Boller, Sören ; Cittaro, Davide ; Bozek, Monika ; Iqbal, Sameena ; Matthews, Janet ; Wrench, David ; Marzec, Jacek ; Tawana, Kiran ; Popov, Nikolay ; O'Riain, Ciaran ; O'Shea, Derville ; Carlotti, Emanuela ; Davies, Andrew ; Lawrie, Charles H ; Matolcsy, Andras ; Calaminici, Maria ; Norton, Andrew ; Byers, Richard J ; Mein, Charles ; Stupka, Elia ; Lister, T Andrew ; Lenz, Georg ; Montoto, Silvia ; Gribben, John G ; Fan, Yuhong ; Grosschedl, Rudolf ; Chelala, Claude ; Fitzgibbon, Jude

Nature genetics, 2014-02, Vol.46 (2), p.176-181 [Periódico revisado por pares]

United States: Nature Publishing Group

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2
Recurrent mutations in epigenetic regulators, RHOA and FYN kinase in peripheral T cell lymphomas
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Recurrent mutations in epigenetic regulators, RHOA and FYN kinase in peripheral T cell lymphomas

Palomero, Teresa ; Couronné, Lucile ; Khiabanian, Hossein ; Kim, Mi-Yeon ; Ambesi-Impiombato, Alberto ; Perez-Garcia, Arianne ; Carpenter, Zachary ; Abate, Francesco ; Allegretta, Maddalena ; Haydu, J Erika ; Jiang, Xiaoyu ; Lossos, Izidore S ; Nicolas, Concha ; Balbin, Milagros ; Bastard, Christian ; Bhagat, Govind ; Piris, Miguel A ; Campo, Elias ; Bernard, Olivier A ; Rabadan, Raul ; Ferrando, Adolfo A

Nature genetics, 2014-02, Vol.46 (2), p.166-170 [Periódico revisado por pares]

United States: Nature Publishing Group

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3
Acute BAF perturbation causes immediate changes in chromatin accessibility
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Acute BAF perturbation causes immediate changes in chromatin accessibility

Schick, Sandra ; Grosche, Sarah ; Kohl, Katharina Eva ; Drpic, Danica ; Jaeger, Martin G ; Marella, Nara C ; Imrichova, Hana ; Lin, Jung-Ming G ; Hofstätter, Gerald ; Schuster, Michael ; Rendeiro, André F ; Koren, Anna ; Petronczki, Mark ; Bock, Christoph ; Müller, André C ; Winter, Georg E ; Kubicek, Stefan

Nature genetics, 2021-03, Vol.53 (3), p.269-278 [Periódico revisado por pares]

United States: Nature Publishing Group

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4
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
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Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

Palles, Claire ; Cazier, Jean-Baptiste ; Howarth, Kimberley M ; Domingo, Enric ; Jones, Angela M ; Broderick, Peter ; Kemp, Zoe ; Spain, Sarah L ; Guarino, Estrella ; Guarino Almeida, Estrella ; Salguero, Israel ; Sherborne, Amy ; Chubb, Daniel ; Carvajal-Carmona, Luis G ; Ma, Yusanne ; Kaur, Kulvinder ; Dobbins, Sara ; Barclay, Ella ; Gorman, Maggie ; Martin, Lynn ; Kovac, Michal B ; Humphray, Sean ; Lucassen, Anneke ; Holmes, Christopher C ; Bentley, David ; Donnelly, Peter ; Taylor, Jenny ; Petridis, Christos ; Roylance, Rebecca ; Sawyer, Elinor J ; Kerr, David J ; Clark, Susan ; Grimes, Jonathan ; Kearsey, Stephen E ; Thomas, Huw J W ; McVean, Gilean ; Houlston, Richard S ; Tomlinson, Ian

Nature genetics, 2013-02, Vol.45 (2), p.136-144 [Periódico revisado por pares]

United States: Nature Publishing Group

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5
Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin
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Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin

Marra, Marco A ; Morin, Ryan D ; Johnson, Nathalie A ; Severson, Tesa M ; Mungall, Andrew J ; An, Jianghong ; Goya, Rodrigo ; Paul, Jessica E ; Boyle, Merrill ; Woolcock, Bruce W ; Kuchenbauer, Florian ; Yap, Damian ; Humphries, R Keith ; Griffith, Obi L ; Shah, Sohrab ; Zhu, Henry ; Kimbara, Michelle ; Shashkin, Pavel ; Charlot, Jean F ; Tcherpakov, Marianna ; Corbett, Richard ; Tam, Angela ; Varhol, Richard ; Smailus, Duane ; Moksa, Michelle ; Zhao, Yongjun ; Delaney, Allen ; Qian, Hong ; Birol, Inanc ; Schein, Jacqueline ; Moore, Richard ; Holt, Robert ; Horsman, Doug E ; Connors, Joseph M ; Jones, Steven ; Aparicio, Samuel ; Hirst, Martin ; Gascoyne, Randy D

Nature genetics, 2010-02, Vol.42 (2), p.181-185 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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6
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer
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Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer

PEIFER, Martin ; FERNANDEZ-CUESTA, Lynnette ; MENON, Roopika ; KOKER, Mirjam ; DAHMEN, Ilona ; MÜLLER, Christian ; DI CERBO, Vincenzo ; SCHILDHAUS, Hans-Ulrich ; ALTMÜLLER, Janine ; BAESSMANN, Ingelore ; BECKER, Christian ; DE WILDE, Bram ; SOS, Martin L ; VANDESOMPELE, Jo ; BÖHM, Diana ; ANSEN, Sascha ; GABLER, Franziska ; WILKENING, Ines ; HEYNCK, Stefanie ; HEUCKMANN, Johannes M ; XIN LU ; CARTER, Scott L ; CIBULSKIS, Kristian ; GEORGE, Julie ; BANERJI, Shantanu ; GETZ, Gad ; PARK, Kwon-Sik ; RAUH, Daniel ; GRÜTTER, Christian ; FISCHER, Matthias ; PASQUALUCCI, Laura ; WRIGHT, Gavin ; WAINER, Zoe ; RUSSELL, Prudence ; SEIDEL, Danila ; PETERSEN, Iver ; YUAN CHEN ; STOELBEN, Erich ; LUDWIG, Corinna ; SCHNABEL, Philipp ; HOFFMANN, Hans ; MULEY, Thomas ; BROCKMANN, Michael ; ENGEL-RIEDEL, Walburga ; MUSCARELLA, Lucia A ; KASPER, Lawryn H ; FAZIO, Vito M ; GROEN, Harry ; TIMENS, Wim ; SIETSMA, Hannie ; THUNNISSEN, Erik ; SMIT, Egbert ; HEIDEMAN, Daniëlle A. M ; SNIJDERS, Peter J. F ; CAPPUZZO, Federico ; LIGORIO, Claudia ; PLENKER, Dennis ; LEENDERS, Frauke ; RUPING SUN ; ZANDER, Thomas

Nature genetics, 2012-10, Vol.44 (10), p.1104-1110 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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7
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
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Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Logan, Clare V ; Szabadkai, György ; Sharpe, Jenny A ; Parry, David A ; Torelli, Silvia ; Childs, Anne-Marie ; Kriek, Marjolein ; Phadke, Rahul ; Johnson, Colin A ; Roberts, Nicola Y ; Bonthron, David T ; Pysden, Karen A ; Whyte, Tamieka ; Munteanu, Iulia ; Foley, A Reghan ; Wheway, Gabrielle ; Szymanska, Katarzyna ; Natarajan, Subaashini ; Abdelhamed, Zakia A ; Morgan, Joanne E ; Roper, Helen ; Santen, Gijs W E ; Niks, Erik H ; van der Pol, W Ludo ; Lindhout, Dick ; Raffaello, Anna ; De Stefani, Diego ; den Dunnen, Johan T ; Sun, Yu ; Ginjaar, Ieke ; Sewry, Caroline A ; Hurles, Matthew ; Rizzuto, Rosario ; Duchen, Michael R ; Muntoni, Francesco ; Sheridan, Eamonn

Nature genetics, 2014-02, Vol.46 (2), p.188-193 [Periódico revisado por pares]

United States: Nature Publishing Group

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8
The genetic landscape of mutations in Burkitt lymphoma
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The genetic landscape of mutations in Burkitt lymphoma

LOVE, Cassandra ; ZHEN SUN ; LUGAR, Patricia L ; RIZZIERI, David A ; LAGOO, Anand S ; BERNAL-MIZRACHI, Leon ; MANN, Karen P ; FLOWERS, Christopher R ; NARESH, Kikkeri N ; EVENS, Andrew M ; CHADBURN, Amy ; GORDON, Leo I ; JIMA, Dereje ; CZADER, Magdalena B ; GILL, Javed I ; HSI, Eric D ; GREENOUGH, Adrienne ; MOFFITT, Andrea B ; MCKINNEY, Matthew ; BANERJEE, Anjishnu ; GRUBOR, Vladimir ; LEVY, Shawn ; DUNSON, David B ; GUOJIE LI ; DAVE, Sandeep S ; ZHANG, Jenny ; MILES, Rodney ; RICHARDS, Kristy L ; DUNPHY, Cherie H ; CHOI, William W. L ; SRIVASTAVA, Gopesh

Nature genetics, 2012-12, Vol.44 (12), p.1321-1325 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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9
Somatic RHOA mutation in angioimmunoblastic T cell lymphoma
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Somatic RHOA mutation in angioimmunoblastic T cell lymphoma

Sakata-Yanagimoto, Mamiko ; Enami, Terukazu ; Yoshida, Kenichi ; Shiraishi, Yuichi ; Ishii, Ryohei ; Miyake, Yasuyuki ; Muto, Hideharu ; Tsuyama, Naoko ; Sato-Otsubo, Aiko ; Okuno, Yusuke ; Sakata, Seiji ; Kamada, Yuhei ; Nakamoto-Matsubara, Rie ; Tran, Nguyen Bich ; Izutsu, Koji ; Sato, Yusuke ; Ohta, Yasunori ; Furuta, Junichi ; Shimizu, Seiichi ; Komeno, Takuya ; Sato, Yuji ; Ito, Takayoshi ; Noguchi, Masayuki ; Noguchi, Emiko ; Sanada, Masashi ; Chiba, Kenichi ; Tanaka, Hiroko ; Suzukawa, Kazumi ; Nanmoku, Toru ; Hasegawa, Yuichi ; Nureki, Osamu ; Miyano, Satoru ; Nakamura, Naoya ; Takeuchi, Kengo ; Ogawa, Seishi ; Chiba, Shigeru

Nature genetics, 2014-02, Vol.46 (2), p.171-175 [Periódico revisado por pares]

United States: Nature Publishing Group

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10
POT1 loss-of-function variants predispose to familial melanoma
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POT1 loss-of-function variants predispose to familial melanoma

Robles-Espinoza, Carla Daniela ; Harland, Mark ; Ramsay, Andrew J ; Aoude, Lauren G ; Quesada, Víctor ; Ding, Zhihao ; Pooley, Karen A ; Pritchard, Antonia L ; Tiffen, Jessamy C ; Petljak, Mia ; Palmer, Jane M ; Symmons, Judith ; Johansson, Peter ; Stark, Mitchell S ; Gartside, Michael G ; Snowden, Helen ; Montgomery, Grant W ; Martin, Nicholas G ; Liu, Jimmy Z ; Choi, Jiyeon ; Makowski, Matthew ; Brown, Kevin M ; Dunning, Alison M ; Keane, Thomas M ; López-Otín, Carlos ; Gruis, Nelleke A ; Hayward, Nicholas K ; Bishop, D Timothy ; Newton-Bishop, Julia A ; Adams, David J

Nature genetics, 2014-05, Vol.46 (5), p.478-481 [Periódico revisado por pares]

United States: Nature Publishing Group

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