Works matching IS 10614036 AND DT 2014 AND VI 46 AND IP 4

Results: 26
    1

    Recurrent PTPRB and PLCG1 mutations in angiosarcoma.

    Published in:
    Nature Genetics, 2014, v. 46, n. 4, p. 376, doi. 10.1038/ng.2921
    By:
    • Behjati, Sam;
    • Tarpey, Patrick S;
    • Sheldon, Helen;
    • Martincorena, Inigo;
    • Van Loo, Peter;
    • Gundem, Gunes;
    • Wedge, David C;
    • Ramakrishna, Manasa;
    • Cooke, Susanna L;
    • Pillay, Nischalan;
    • Vollan, Hans Kristian M;
    • Papaemmanuil, Elli;
    • Koss, Hans;
    • Bunney, Tom D;
    • Hardy, Claire;
    • Joseph, Olivia R;
    • Martin, Sancha;
    • Mudie, Laura;
    • Butler, Adam;
    • Teague, Jon W
    Publication type:
    Article
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    A recurrent inactivating mutation in RHOA GTPase in angioimmunoblastic T cell lymphoma.

    Published in:
    Nature Genetics, 2014, v. 46, n. 4, p. 371, doi. 10.1038/ng.2916
    By:
    • Yoo, Hae Yong;
    • Sung, Min Kyung;
    • Lee, Seung Ho;
    • Kim, Sangok;
    • Lee, Haeseung;
    • Park, Seongjin;
    • Kim, Sang Cheol;
    • Lee, Byungwook;
    • Rho, Kyoohyoung;
    • Lee, Jong-Eun;
    • Cho, Kwang-Hwi;
    • Kim, Wankyu;
    • Ju, Hyunjung;
    • Kim, Jaesang;
    • Kim, Seok Jin;
    • Kim, Won Seog;
    • Lee, Sanghyuk;
    • Ko, Young Hyeh
    Publication type:
    Article
    6

    Recurrent somatic mutations of PTPN1 in primary mediastinal B cell lymphoma and Hodgkin lymphoma.

    Published in:
    Nature Genetics, 2014, v. 46, n. 4, p. 329, doi. 10.1038/ng.2900
    By:
    • Gunawardana, Jay;
    • Chan, Fong Chun;
    • Telenius, Adèle;
    • Woolcock, Bruce;
    • Kridel, Robert;
    • Tan, King L;
    • Ben-Neriah, Susana;
    • Mottok, Anja;
    • Lim, Raymond S;
    • Boyle, Merrill;
    • Rogic, Sanja;
    • Rimsza, Lisa M;
    • Guiter, Chrystelle;
    • Leroy, Karen;
    • Gaulard, Philippe;
    • Haioun, Corinne;
    • Marra, Marco A;
    • Savage, Kerry J;
    • Connors, Joseph M;
    • Shah, Sohrab P
    Publication type:
    Article
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    Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.

    Published in:
    Nature Genetics, 2014, v. 46, n. 4, p. 345, doi. 10.1038/ng.2926
    By:
    • Holmen, Oddgeir L;
    • Zhang, He;
    • Fan, Yanbo;
    • Hovelson, Daniel H;
    • Schmidt, Ellen M;
    • Zhou, Wei;
    • Guo, Yanhong;
    • Zhang, Ji;
    • Langhammer, Arnulf;
    • Løchen, Maja-Lisa;
    • Ganesh, Santhi K;
    • Vatten, Lars;
    • Skorpen, Frank;
    • Dalen, Håvard;
    • Zhang, Jifeng;
    • Pennathur, Subramaniam;
    • Chen, Jin;
    • Platou, Carl;
    • Mathiesen, Ellisiv B;
    • Wilsgaard, Tom
    Publication type:
    Article
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    14

    Pathogens and host immunity in the ancient human oral cavity.

    Published in:
    Nature Genetics, 2014, v. 46, n. 4, p. 336, doi. 10.1038/ng.2906
    By:
    • Warinner, Christina;
    • Rodrigues, João F Matias;
    • Vyas, Rounak;
    • Trachsel, Christian;
    • Shved, Natallia;
    • Grossmann, Jonas;
    • Radini, Anita;
    • Hancock, Y;
    • Tito, Raul Y;
    • Fiddyment, Sarah;
    • Speller, Camilla;
    • Hendy, Jessica;
    • Charlton, Sophy;
    • Luder, Hans Ulrich;
    • Salazar-García, Domingo C;
    • Eppler, Elisabeth;
    • Seiler, Roger;
    • Hansen, Lars H;
    • Castruita, José Alfredo Samaniego;
    • Barkow-Oesterreicher, Simon
    Publication type:
    Article
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    An epigenetic mechanism of resistance to targeted therapy in T cell acute lymphoblastic leukemia.

    Published in:
    Nature Genetics, 2014, v. 46, n. 4, p. 364, doi. 10.1038/ng.2913
    By:
    • Knoechel, Birgit;
    • Roderick, Justine E;
    • Williamson, Kaylyn E;
    • Zhu, Jiang;
    • Lohr, Jens G;
    • Cotton, Matthew J;
    • Gillespie, Shawn M;
    • Fernandez, Daniel;
    • Ku, Manching;
    • Wang, Hongfang;
    • Piccioni, Federica;
    • Silver, Serena J;
    • Jain, Mohit;
    • Pearson, Daniel;
    • Kluk, Michael J;
    • Ott, Christopher J;
    • Shultz, Leonard D;
    • Brehm, Michael A;
    • Greiner, Dale L;
    • Gutierrez, Alejandro
    Publication type:
    Article
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    Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.

    Published in:
    Nature Genetics, 2014, v. 46, n. 4, p. 357, doi. 10.1038/ng.2915
    By:
    • Flannick, Jason;
    • Thorleifsson, Gudmar;
    • Beer, Nicola L;
    • Jacobs, Suzanne B R;
    • Grarup, Niels;
    • Burtt, Noël P;
    • Mahajan, Anubha;
    • Fuchsberger, Christian;
    • Atzmon, Gil;
    • Benediktsson, Rafn;
    • Blangero, John;
    • Bowden, Don W;
    • Brandslund, Ivan;
    • Brosnan, Julia;
    • Burslem, Frank;
    • Chambers, John;
    • Cho, Yoon Shin;
    • Christensen, Cramer;
    • Douglas, Desirée A;
    • Duggirala, Ravindranath
    Publication type:
    Article
    23

    A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.

    Published in:
    Nature Genetics, 2014, v. 46, n. 4, p. 380, doi. 10.1038/ng.2899
    By:
    • Helsmoortel, Céline;
    • Vulto-van Silfhout, Anneke T;
    • Coe, Bradley P;
    • Vandeweyer, Geert;
    • Rooms, Liesbeth;
    • van den Ende, Jenneke;
    • Schuurs-Hoeijmakers, Janneke H M;
    • Marcelis, Carlo L;
    • Willemsen, Marjolein H;
    • Vissers, Lisenka E L M;
    • Yntema, Helger G;
    • Bakshi, Madhura;
    • Wilson, Meredith;
    • Witherspoon, Kali T;
    • Malmgren, Helena;
    • Nordgren, Ann;
    • Annerén, Göran;
    • Fichera, Marco;
    • Bosco, Paolo;
    • Romano, Corrado
    Publication type:
    Article
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    Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

    Published in:
    Nature Genetics, 2014, v. 46, n. 4, p. 385, doi. 10.1038/ng.2917
    By:
    • Tatton-Brown, Katrina;
    • Seal, Sheila;
    • Ruark, Elise;
    • Harmer, Jenny;
    • Ramsay, Emma;
    • del Vecchio Duarte, Silvana;
    • Zachariou, Anna;
    • Hanks, Sandra;
    • O'Brien, Eleanor;
    • Aksglaede, Lise;
    • Baralle, Diana;
    • Dabir, Tabib;
    • Gener, Blanca;
    • Goudie, David;
    • Homfray, Tessa;
    • Kumar, Ajith;
    • Pilz, Daniela T;
    • Selicorni, Angelo;
    • Temple, I Karen;
    • Van Maldergem, Lionel
    Publication type:
    Article
    26

    Mutations in TJP2 cause progressive cholestatic liver disease.

    Published in:
    Nature Genetics, 2014, v. 46, n. 4, p. 326, doi. 10.1038/ng.2918
    By:
    • Sambrotta, Melissa;
    • Strautnieks, Sandra;
    • Papouli, Efterpi;
    • Rushton, Peter;
    • Clark, Barnaby E;
    • Parry, David A;
    • Logan, Clare V;
    • Newbury, Lucy J;
    • Kamath, Binita M;
    • Ling, Simon;
    • Grammatikopoulos, Tassos;
    • Wagner, Bart E;
    • Magee, John C;
    • Sokol, Ronald J;
    • Mieli-Vergani, Giorgina;
    • Smith, Joshua D;
    • Johnson, Colin A;
    • McClean, Patricia;
    • Simpson, Michael A;
    • Knisely, A S
    Publication type:
    Article