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Refinado por: assunto: Biological And Medical Sciences remover
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1
Mutations of optineurin in amyotrophic lateral sclerosis
Mutations of optineurin in amyotrophic lateral sclerosis
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Mutations of optineurin in amyotrophic lateral sclerosis

Kawakami, Hideshi ; Kawata, Akihiro ; Maruyama, Hirofumi ; Nodera, Hiroyuki ; Komure, Osamu ; Abe, Koji ; Ito, Hidefumi ; Hirano, Asao ; Kinoshita, Yoshimi ; Kato, Hidemasa ; Hagiwara, Koichi ; Watanabe, Yasuhito ; Ogasawara, Kazumasa ; Hirai, Takeshi ; Takumi, Toru ; Kato, Takeo ; Morimoto, Nobutoshi ; Morino, Hiroyuki ; Kamada, Masaki ; Kobatake, Keitaro ; Suzuki, Naoki ; Aoki, Masashi ; Izumi, Yuishin ; Matsuura, Shinya ; Kaji, Ryuji ; Suzuki, Hidenori ; Kusaka, Hirofumi

Nature (London), 2010-05, Vol.465 (7295), p.223-226 [Periódico revisado por pares]

London: Nature Publishing Group

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2
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

DEARDORFF, Matthew A ; BANDO, Masashige ; COLE, Kathryn E ; DE BAERE, Elfride ; DECROOS, Christophe ; DI DONATO, Nataliya ; ERNST, Sarah ; FRANCEY, Lauren J ; GYFTODIMOU, Yolanda ; HIRASHIMA, Kyotaro ; HULLINGS, Melanie ; ISHIKAWA, Yuuichi ; NAKATO, Ryuichiro ; JAULIN, Christian ; KAUR, Maninder ; KIYONO, Tohru ; LOMBARDI, Patrick M ; MAGNAGHI-JAULIN, Laura ; MORTIER, Geert R ; NOZAKI, Naohito ; PETERSEN, Michael B ; SEIMIYA, Hiroyuki ; SIU, Victoria M ; WATRIN, Erwan ; SUZUKI, Yutaka ; TAKAGAKI, Kentaro ; WILDE, Jonathan J ; WILLEMS, Patrick J ; PRIGENT, Claude ; GILLESSEN-KAESBACH, Gabriele ; CHRISTIANSON, David W ; KAISER, Frank J ; JACKSON, Laird G ; HIROTA, Toru ; ITOH, Takehiko ; KRANTZ, Ian D ; SHIRAHIGE, Katsuhiko ; MINAMINO, Masashi ; SAITOH, Katsuya ; KOMATA, Makiko ; KATOU, Yuki ; CLARK, Dinah

Nature (London), 2012-09, Vol.489 (7415), p.313-317 [Periódico revisado por pares]

London: Nature Publishing Group

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3
Frequent Mutation of BAP1 in Metastasizing Uveal Melanomas
Frequent Mutation of BAP1 in Metastasizing Uveal Melanomas
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Frequent Mutation of BAP1 in Metastasizing Uveal Melanomas

Harbour, J. William ; Onken, Michael D ; Roberson, Elisha D.O ; Duan, Shenghui ; Cao, Li ; Worley, Lori A ; Council, M. Laurin ; Matatall, Katie A ; Helms, Cynthia ; Bowcock, Anne M

Science (American Association for the Advancement of Science), 2010-12, Vol.330 (6009), p.1410-1413 [Periódico revisado por pares]

Washington, DC: American Association for the Advancement of Science

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4
Cancer-associated IDH1 mutations produce 2-hydroxyglutarate
Cancer-associated IDH1 mutations produce 2-hydroxyglutarate
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Cancer-associated IDH1 mutations produce 2-hydroxyglutarate

Bittinger, Mark A ; Driggers, Edward M ; Ward, Patrick S ; Gross, Stefan ; Su, Shinsan M ; Liau, Linda M ; Dang, Lenny ; Fantin, Valeria R ; Jang, Hyun Gyung ; Marks, Kevin M ; White, David W ; Vander Heiden, Matthew G ; Thompson, Craig B ; Rabinowitz, Joshua D ; Cantley, Lewis C ; Keenan, Marie C ; Prins, Robert M ; Jin, Shengfang ; Bennett, Bryson D ; Yen, Katharine E

Nature (London), 2009-12, Vol.462 (7274), p.739-744 [Periódico revisado por pares]

London: Nature Publishing Group

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5
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
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Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

WU, Chi-Hong ; FALLINI, Claudia ; KOST, Jason E ; GONZALEZ-PEREZ, Paloma ; FOX, Andrew D ; ADAMS, Jenni ; TARONI, Franco ; TILOCA, Cinzia ; LYN LECLERC, Ashley ; CHAFE, Shawn C ; MANGROO, Dev ; MOORE, Melissa J ; TICOZZI, Nicola ; ZITZEWITZ, Jill A ; XU, Zuo-Shang ; DEN BERG, Leonard H. Van ; GLASS, Jonathan D ; SICILIANO, Gabriele ; CIRULLI, Elizabeth T ; GOLDSTEIN, David B ; SALACHAS, Francois ; MEININGER, Vincent ; ROSSOLL, Wilfried ; KEAGLE, Pamela J ; RATTI, Antonia ; GELLERA, Cinzia ; BOSCO, Daryl A ; BASSELL, Gary J ; SILANI, Vincenzo ; DRORY, Vivian E ; BROWN, Robert H ; LANDERS, John E ; SAPP, Peter C ; PIOTROWSKA, Katarzyna ; LOWE, Patrick ; KOPPERS, Max ; MCKENNA-YASEK, Diane ; BARON, Desiree M

Nature (London), 2012-08, Vol.488 (7412), p.499-503 [Periódico revisado por pares]

London: Nature Publishing Group

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6
K⁺ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension
K⁺ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension
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K⁺ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension

Choi, Murim ; Scholl, Ute I ; Yue, Peng ; Björklund, Peyman ; Zhao, Bixiao ; Nelson-Williams, Carol ; Ji, Weizhen ; Cho, Yoonsang ; Patel, Aniruddh ; Men, Clara J ; Lolis, Elias ; Wisgerhof, Max V ; Geller, David S ; Mane, Shrikant ; Hellman, Per ; Westin, Gunnar ; Åkerström, Göran ; Wang, Wenhui ; Carling, Tobias ; Lifton, Richard P

Science (American Association for the Advancement of Science), 2011-02, Vol.331 (6018), p.768-772 [Periódico revisado por pares]

Washington, DC: American Association for the Advancement of Science

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7
Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
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Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

Kwiatkowski, T.J. Jr ; Bosco, D.A ; LeClerc, A.L ; Tamrazian, E ; Vanderburg, C.R ; Russ, C ; Davis, A ; Gilchrist, J ; Kasarskis, E.J ; Munsat, T ; Valdmanis, P ; Rouleau, G.A ; Hosler, B.A ; Cortelli, P ; de Jong, P.J ; Yoshinaga, Y ; Haines, J.L ; Pericak-Vance, M.A ; Yan, J ; Ticozzi, N ; Siddique, T ; McKenna-Yasek, D ; Sapp, P.C ; Horvitz, H.R ; Landers, J.E ; Brown, R.H. Jr

Science (American Association for the Advancement of Science), 2009-02, Vol.323 (5918), p.1205-1208 [Periódico revisado por pares]

Washington, DC: American Association for the Advancement of Science

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8
Oncogenically active MYD88 mutations in human lymphoma
Oncogenically active MYD88 mutations in human lymphoma
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Oncogenically active MYD88 mutations in human lymphoma

NGO, Vu N ; YOUNG, Ryan M ; SHAFFER, Arthur L ; ROMESSER, Paul ; WRIGHT, George ; POWELL, John ; ROSENWALD, Andreas ; MULLER-HERMELINK, Hans Konrad ; OTT, German ; GASCOYNE, Randy D ; CONNORS, Joseph M ; RIMSZA, Lisa M ; SCHMITZ, Roland ; CAMPO, Elias ; JAFFE, Elaine S ; DELABIE, Jan ; SMELAND, Erlend B ; FISHER, Richard I ; BRAZIEL, Rita M ; TUBBS, Raymond R ; COOK, J. R ; WEISENBURGER, Denny D ; CHAN, Wing C ; JHAVAR, Sameer ; STAUDT, Louis M ; WENMING XIAO ; LIM, Kian-Huat ; KOHLHAMMER, Holger ; WEIHONG XU ; YANDAN YANG ; HONG ZHAO

Nature (London), 2011-02, Vol.470 (7332), p.115-119 [Periódico revisado por pares]

London: Nature Publishing Group

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9
The clonal and mutational evolution spectrum of primary triple―negative breast cancers
The clonal and mutational evolution spectrum of primary triple―negative breast cancers
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The clonal and mutational evolution spectrum of primary triple―negative breast cancers

SHAH, Sohrab P ; ROTH, Andrew ; BASHASHATI, Ali ; PRENTICE, Leah M ; KHATTRA, Jaswinder ; BURLEIGH, Angela ; YAP, Damian ; BERNARD, Virginie ; MCPHERSON, Andrew ; SHUMANSKY, Karey ; CRISAN, Anamaria ; GIULIANY, Ryan ; GOYA, Rodrigo ; HERAVI-MOUSSAVI, Alireza ; ROSNER, Jamie ; LAI, Daniel ; BIROL, Inane ; VARHOL, Richard ; TAM, Angela ; DHALLA, Noreen ; ZENG, Thomas ; MA, Kevin ; CHAN, Simon K ; OLOUMI, Arusha ; GRIFFITH, Malachi ; MORADIAN, Annie ; GRACE CHENG, S.-W ; MORIN, Gregg B ; WATSON, Peter ; GELMON, Karen ; CHIA, Stephen ; CHIN, Suet-Feung ; CURTIS, Christina ; RUEDA, Oscar M ; HA, Gavin ; PHAROAH, Paul D ; DAMARAJU, Sambasivarao ; MACKEY, John ; HOON, Kelly ; HARKINS, Timothy ; TADIGOTLA, Vasisht ; SIGAROUDINIA, Mahvash ; GASCARD, Philippe ; TLSTY, Thea ; COSTELLO, Joseph F ; YONGJUN ZHAO ; MEYER, Irmtraud M ; EAVES, Connie J ; WASSERMAN, Wyeth W ; JONES, Steven ; HUNTSMAN, David ; HIRST, Martin ; CALDAS, Carlos ; MARRA, Marco A ; APARICIO, Samuel ; TURASHVILI, Gulisa ; JIARUI DING ; TSE, Kane ; HAFFARI, Gholamreza

Nature (London), 2012-06, Vol.486 (7403), p.395-399 [Periódico revisado por pares]

London: Nature Publishing Group

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10
A Mouse Model of Mitochondrial Disease Reveals Germline Selection against Severe mtDNA Mutations
A Mouse Model of Mitochondrial Disease Reveals Germline Selection against Severe mtDNA Mutations
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A Mouse Model of Mitochondrial Disease Reveals Germline Selection against Severe mtDNA Mutations

Fan, Weiwei ; Waymire, Katrina G. ; Narula, Navneet ; Li, Peng ; Rocher, Christophe ; Coskun, Pinar E. ; Vannan, Mani A. ; Narula, Jagat ; MacGregor, Grant R. ; Wallace, Douglas C.

Science (American Association for the Advancement of Science), 2008-02, Vol.319 (5865), p.958-962 [Periódico revisado por pares]

Washington, DC: American Association for the Advancement of Science

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