Zobrazeno 1 - 9
of 9
pro vyhledávání: ''
Autor:
Nora Katabi, Agnes Viale, Seungwon Kim, Raja R. Seethala, Sevin Turcan, Luc G. T. Morris, Igor Dolgalev, Chris Sander, Stephanie Eng, David M. Roy, Margaret Leversha, Simion I. Chiosea, Jason T. Huse, Nikolaus Schultz, Rileen Sinha, Elisabeth Bloemena, Yupu Liang, Ian Ganly, Yongxing Gong, Benjamin J. Raphael, Timothy A. Chan, Jianan Zhang, William Lee, Marija Drobnjak, Robert L. Ferris, Luke Peng, N. Gopalakrishna Iyer, Kety Huberman, Bhuvanesh Singh, Allen S. Ho, Christine E Rice, Kasthuri Kannan, Adriana Heguy, Deepa Ramaswami, Jatin P. Shah, C. René Leemans, Logan A. Walsh, Benjamin Gross
Publikováno v:
Nature genetics
Nature Genetics, 45(7), 791-798. Nature Publishing Group
Ho, A S, Kannan, K, Roy, D M, Morris, L G T, Ganly, I, Katabi, N, Ramaswami, D, Walsh, L A, Eng, S, Huse, J T, Zhang, J, Dolgalev, I, Huberman, K, Heguy, A, Viale, A, Drobnjak, M, Leversha, M A, Rice, C E, Singh, B, Iyer, N G, Leemans, C R, Bloemena, E, Ferris, R L, Seethala, R R, Gross, B E, Liang, Y, Sinha, R, Peng, L, Raphael, B J, Turcan, S, Gong, Y, Schultz, N, Kim, S, Chiosea, S, Shah, J P, Sander, C, Lee, W & Chan, T A 2013, ' The mutational landscape of adenoid cystic carcinoma ', Nature genetics, vol. 45, no. 7, pp. 791-798 . https://doi.org/10.1038/ng.2643
Ho, A S, Kannan, K, Roy, D M, Morris, L G T, Ganly, I, Katabi, N, Ramaswami, D, Walsh, L A, Eng, S, Huse, J T, Zhang, J N, Dolgalev, I, Huberman, K, Heguy, A, Viale, A, Drobnjak, M, Leversha, M A, Rice, C E, Singh, B, Iyer, N G, Leemans, C R, Bloemena, E, Ferris, R L, Seethala, R R, Gross, B E, Liang, Y P, Sinha, R, Peng, L K, Raphael, B J, Turcan, S, Gong, Y X, Schultz, N, Kim, S, Chiosea, S, Shah, JP, Sander, C, Lee, W & Chan, T A 2013, ' The mutational landscape of adenoid cystic carcinoma ', Nature Genetics, vol. 45, no. 7, pp. 791-798 . https://doi.org/10.1038/ng.2643
Nature genetics, 45(7), 791-798. Nature Publishing Group
Nature Genetics, 45(7), 791-798. Nature Publishing Group
Ho, A S, Kannan, K, Roy, D M, Morris, L G T, Ganly, I, Katabi, N, Ramaswami, D, Walsh, L A, Eng, S, Huse, J T, Zhang, J, Dolgalev, I, Huberman, K, Heguy, A, Viale, A, Drobnjak, M, Leversha, M A, Rice, C E, Singh, B, Iyer, N G, Leemans, C R, Bloemena, E, Ferris, R L, Seethala, R R, Gross, B E, Liang, Y, Sinha, R, Peng, L, Raphael, B J, Turcan, S, Gong, Y, Schultz, N, Kim, S, Chiosea, S, Shah, J P, Sander, C, Lee, W & Chan, T A 2013, ' The mutational landscape of adenoid cystic carcinoma ', Nature genetics, vol. 45, no. 7, pp. 791-798 . https://doi.org/10.1038/ng.2643
Ho, A S, Kannan, K, Roy, D M, Morris, L G T, Ganly, I, Katabi, N, Ramaswami, D, Walsh, L A, Eng, S, Huse, J T, Zhang, J N, Dolgalev, I, Huberman, K, Heguy, A, Viale, A, Drobnjak, M, Leversha, M A, Rice, C E, Singh, B, Iyer, N G, Leemans, C R, Bloemena, E, Ferris, R L, Seethala, R R, Gross, B E, Liang, Y P, Sinha, R, Peng, L K, Raphael, B J, Turcan, S, Gong, Y X, Schultz, N, Kim, S, Chiosea, S, Shah, JP, Sander, C, Lee, W & Chan, T A 2013, ' The mutational landscape of adenoid cystic carcinoma ', Nature Genetics, vol. 45, no. 7, pp. 791-798 . https://doi.org/10.1038/ng.2643
Nature genetics, 45(7), 791-798. Nature Publishing Group
Adenoid cystic carcinomas (ACCs) are among the most enigmatic of human malignancies. These aggressive salivary gland cancers frequently recur and metastasize despite definitive treatment, with no known effective chemotherapy regimen. Here we determin
Autor:
Miguel Foronda, Carlos López-Otín, Xose S. Puente, Laura Conde, Mercedes Gallardo, Agnieszka Kwarciak, Andrew J. Ramsay, Elias Campo, Cecilia Garabaya, Armando López-Guillermo, Maria A. Blasco, David Rodríguez, Neus Villamor, Alejandra Martínez-Trillos, Víctor Quesada, Mónica López-Guerra
Publikováno v:
Nature Genetics; Vol 45
Nature Genetics
Nature Genetics
Carlos Lopez-Otin and colleagues report recurrent mutations in POT1 in chronic lymphocytic leukemia. This is the first member of the telomeric shelterin complex reported to be mutated in human cancer.
Autor:
Palles, Claire, Cazier, Jean-Baptiste, Howarth, Kimberley M, Domingo, Enric, Jones, Angela M, Broderick, Peter, Kemp, Zoe, Spain, Sarah L, Almeida, Estrella Guarino, 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, Thomas, Huw J W, Maher, Eamonn, Evans, Gareth, Lucassen, Anneke, Cummings, Carole, Stevens, Margaret, Walker, Lisa, Halliday, Dorothy, Armstrong, Ruth, Paterson, Joan, Hodgson, Shirley, Homfray, Tessa, Side, Lucy, Izatt, Louise, Donaldson, Alan, Tomkins, Susan, Morrison, Patrick, Goodman, Selina, Brewer, Carole, Henderson, Alex, Davidson, Rosemarie, Murday, Victoria, Cook, Jaqueline, Haites, Neva, Bishop, Timothy, Sheridan, Eamonn, Green, Andrew, Marks, Christopher, Carpenter, Sue, Broughton, Mary, Greenhalge, Lynn, Suri, Mohnish, Donnelly, Peter, Bell, John, Bentley, David, McVean, Gilean, Ratcliffe, Peter, Taylor, Jenny, Wilkie, Andrew, Broxholme, John, Buck, David, Cornall, Richard, Gregory, Lorna, Knight, Julian, Lunter, Gerton, Tomlinson, Ian, Kingsbury, Zoya, Grocock, Russell, Hatton, Edouard, Holmes, Christopher C, Hughes, Linda, Humburg, Peter, Kanapin, Alexander, Murray, Lisa, Rimmer, Andy, Petridis, Christos, Roylance, Rebecca, Sawyer, Elinor J, Kerr, David J, Clark, Susan, Grimes, Jonathan, Kearsey, Stephen E, Houlston, Richard S
Publikováno v:
Nature Genetics; Vol 45
Nature genetics, vol 45, iss 2
Nature genetics
Nature Genetics
Nature genetics, vol 45, iss 2
Nature genetics
Nature Genetics
Many individuals with multiple or large colorectal adenomas or early-onset colorectal cancer (CRC) have no detectable germline mutations in the known cancer predisposition genes. Using whole-genome sequencing, supplemented by linkage and association
Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia
Autor:
María Rozman, Xose S. Puente, Marta Aymerich, Daniel Rico, Laura Conde, Miriam Rubio, Modesto Orozco, Jian-Bing Fan, Guillem Clot, Marina Bibikova, Josep Lluís Gelpí, Mónica López-Guerra, Magda Pinyol, David G. Pisano, Vincent T. Ho, Brandy Klotzle, Panagiotis Papasaikas, Lluis Hernández, Neus Villamor, Simone Ecker, Alba Navarro, Ana C. Queirós, Sergio Barberan-Soler, Alejandra Martínez-Trillos, Carlos López-Otín, Armando López-Guillermo, José I. Martín-Subero, Isabelle Brun-Heath, Marta Kulis, Romina Royo, Ivo Gut, Víctor Quesada, Giancarlo Castellano, Mònica Bayés, Simon Heath, Dolors Colomer, Alfonso Valencia, Elias Campo, Pedro Jares, Marta Gut, Sílvia Beà
Publikováno v:
Nature Genetics; Vol 44
We have extensively characterized the DNA methylomes of 139 patients with chronic lymphocytic leukemia (CLL) with mutated or unmutated IGHV and of several mature B-cell subpopulations through the use of whole-genome bisulfite sequencing and high-dens
Autor:
Jean-François Mosnier, Annick Harel-Bellan, Patrick Brest, Annabelle Cesaro, Mouloud Souidi, Kevin Lebrigand, Bernard Mari, Valérie Vouret-Craviari, Pierre Lapaquette, Xavier Hébuterne, Arlette Darfeuille-Michaud, Paul Hofman, Pascal Barbry, Baharia Mograbi
Publikováno v:
Nature Genetics; Vol 43
Nature Genetics
Nature Genetics, Nature Publishing Group, 2011, 43 (3), pp.242-5. ⟨10.1038/ng.762⟩
Nature Genetics, 2011, 43 (3), pp.242-5. ⟨10.1038/ng.762⟩
Nature Genetics
Nature Genetics, Nature Publishing Group, 2011, 43 (3), pp.242-5. ⟨10.1038/ng.762⟩
Nature Genetics, 2011, 43 (3), pp.242-5. ⟨10.1038/ng.762⟩
International audience; Susceptibility to Crohn's disease, a complex inflammatory disease, is influenced by common variants at many loci. The common exonic synonymous SNP (c.313C>T) in IRGM, found in strong linkage disequilibrium with a deletion poly
Autor:
Jerome I. Rotter, Abbas Dehghan, Gang Zheng, Willem H. Ouwehand, Caroline S. Fox, Jack M. Guralnik, Tamara B. Harris, Toshiko Tanaka, Andrew E. Jaffe, Albert Hofman, Andrew B. Singleton, Jing-Ping Lin, Joshua C. Bis, Santhi K. Ganesh, Christian Gieger, Christa Meisinger, Jaap Jan Zwaginga, Mary Cushman, Matthias Nauck, Aravinda Chakravarti, Gudny Eiriksdottir, Daniel Levy, Kenneth Rice, Swee Lay Thein, Augusto Rendon, Vilmundur Gudnason, Luigi Ferrucci, Frank J. A. van Rooij, Jennifer G. Sambrook, Andreas Greinacher, Dena G. Hernandez, Jacqueline C.M. Witteman, Lenore J. Launer, Qiong Yang, Thor Aspelund, Panos Deloukas, Eric Boerwinkle, Ben A. Oostra, Germaine C. Verwoert, Cornelia M. van Duijn, Albert V. Smith, Thomas Lumley, Anna Köttgen, Nicole L. Glazer, André G. Uitterlinden, Janine M. Vangils, Ming-Huei Chen, Georg Ehret, Janine F. Felix, Mike A. Nalls, Kushang V. Patel, Alexander Teumer, L. Adrienne Cupples, Susan L. Furth, Christopher J. O'Donnell, Josef Coresh, Tim D. Spector, Brigitte Kühnel, Stefania Bandinelli, Neil A. Zakai, Nicole Soranzo, Bruce M. Psaty
Publikováno v:
Nature genetics
Nature Genetics, Vol. 41, No 11 (2009) pp. 1191-1198
Nature Genetics, 41(11), 1191-U48. Nature Publishing Group
Nature Genetics, Vol. 41, No 11 (2009) pp. 1191-1198
Nature Genetics, 41(11), 1191-U48. Nature Publishing Group
Measurements of erythrocytes within the blood are important clinical traits and can indicate various hematological disorders. We report here genome-wide association studies (GWAS) for six erythrocyte traits, including hemoglobin concentration (Hb), h
Autor:
Hannes Lans, Jan H.J. Hoeijmakers
Publikováno v:
Nature Genetics
Nature Genetics, 44(8), 836-838. Nature Publishing Group
Nature Genetics, 44(8), 836-838. Nature Publishing Group
Two new studies report mutations in FAN1 and three other genome-stability genes that tie the DNA damage response to progressive kidney failure and the dysfunction of several other organs. These findings provide clues to the underlying causes of tissu
Autor:
Suzanne Rafelt, Dirk J. van Veldhuisen, Rudolf A. de Boer, Wiek H. van Gilst, Tim D. Spector, Alan J. Beveridge, Guangju Zhai, Gerjan Navis, Nilesh J. Samani, Hannah Blackburn, Irene Mateo Leach, Peter S. Braund, Alison H. Goodall, John R. Thompson, Massimo Mangino, Martin D. Tobin, Willem H. Ouwehand, Michael A. Kaiser, Ana M. Valdes, Alistair S. Hall, Veryan Codd, Pim van der Harst, Paul Burton, Christopher P. Nelson, Nicole Soranzo, Jasbir S. Moore
Publikováno v:
Nature Genetics, 42(3), 197-199. Nature Publishing Group
Nature Genetics; Vol 42
Nature Genetics
Nature Genetics; Vol 42
Nature Genetics
We conducted genome-wide association analyses of mean leukocyte telomere length in 2,917 individuals, with follow-up replication in 9,492 individuals. We identified an association with telomere length on 3q26 (rs12696304, combined P = 3.72 x 10(-14))
Autor:
Lars P. Ryder, Flora E. van Leeuwen, Karina Meden Sørensen, Rosie Cooke, Ronald van Eijk, Helga Westers, Victor Enciso-Mora, Elke Pogge von Strandmann, Annegien Broeks, Andreas Engert, Dorothy Montgomery, Malcolm Taylor, Henrik Hjalgrim, Ellen T. Chang, Mads Melbye, Eve Roman, Kari Hemminki, Marieke L. De Bruin, Amy Lloyd, Sara E. Dobbins, Arjan Diepstra, Jayaram Vijayakrishnan, Anke van den Berg, Hans-Olov Adami, Katrin S. Reiners, Karin E. Smedby, Tracy Lightfoot, Asta Försti, Robert M.W. Hofstra, Nicola S. Russell, Daniel Molin, Lesley Shield, Ruth F. Jarrett, Peter Broderick, Ilja M. Nolte, Anthony J. Swerdlow, Tom van Wezel, Richard S. Houlston, Bianca Olver, Stephen Hamilton-Dutoit, Klaus Rostgaard, Annette Lake, Yussanne Ma, Bengt Glimelius, Alan Ashworth
Publikováno v:
Nature genetics
Enciso-Mora, V, Broderick, P, Ma, Y, Jarrett, R F, Hjalgrim, H, Hemminki, K, van den Berg, A E, Olver, B, Lloyd, A, Dobbins, S E, Lightfoot, T, van Leeuwen, F E, Forsti, A, Diepstra, A, Broeks, A, Vijayakrishnan, J, Shield, L, Lake, A, Montgomery, D, Roman, E, Engert, A, von Strandmann, E P, Reiners, K S, Nolte, I M, Smedby, K E, Adami, H O, Russell, N S, Glimelius, B, Hamilton-Dutoit, S, de Bruin, M, Ryder, L P, Molin, D, Sorensen, K M, Chang, E T, Taylor, M, Cooke, R, Hofstra, R, Westers, H, van Wezel, T, van Eijk, R, Ashworth, A, Rostgaard, K, Melbye, M, Swerdlow, A J & Houlston, R S 2010, ' A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3) ', Nature Genetics, vol. 42, no. 12, pp. 1126-1130 . https://doi.org/10.1038/ng.696
Nature Genetics, 42(12), 1126-+. Nature Publishing Group
Enciso-Mora, V, Broderick, P, Ma, Y, Jarrett, R F, Hjalgrim, H, Hemminki, K, van den Berg, A, Olver, B, Lloyd, A, Dobbins, S E, Lightfoot, T, van Leeuwen, F E, Försti, A, Diepstra, A, Broeks, A, Vijayakrishnan, J, Shield, L, Lake, A, Montgomery, D, Roman, E, Engert, A, von Strandmann, E P, Reiners, K S, Nolte, I M, Smedby, K E, Adami, H-O, Russell, N S, Glimelius, B, Hamilton-Dutoit, S, de Bruin, M, Ryder, L P, Molin, D, Sorensen, K M, Chang, E T, Taylor, M, Cooke, R, Hofstra, R, Westers, H, van Wezel, T, van Eijk, R, Ashworth, A, Rostgaard, K, Melbye, M, Swerdlow, A J & Houlston, R S 2010, ' A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3) ', Nature Genetics, vol. 42, no. 12, pp. 1126-30 . https://doi.org/10.1038/ng.696
Nature Genetics; Vol 42
Nature Genetics
Nature Genetics, 42(12), 1126-1130. Nature Publishing Group
Nature Genetics, 42(12), 1126
Enciso-Mora, V, Broderick, P, Ma, Y, Jarrett, R F, Hjalgrim, H, Hemminki, K, van den Berg, A E, Olver, B, Lloyd, A, Dobbins, S E, Lightfoot, T, van Leeuwen, F E, Forsti, A, Diepstra, A, Broeks, A, Vijayakrishnan, J, Shield, L, Lake, A, Montgomery, D, Roman, E, Engert, A, von Strandmann, E P, Reiners, K S, Nolte, I M, Smedby, K E, Adami, H O, Russell, N S, Glimelius, B, Hamilton-Dutoit, S, de Bruin, M, Ryder, L P, Molin, D, Sorensen, K M, Chang, E T, Taylor, M, Cooke, R, Hofstra, R, Westers, H, van Wezel, T, van Eijk, R, Ashworth, A, Rostgaard, K, Melbye, M, Swerdlow, A J & Houlston, R S 2010, ' A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3) ', Nature Genetics, vol. 42, no. 12, pp. 1126-1130 . https://doi.org/10.1038/ng.696
Nature Genetics, 42(12), 1126-+. Nature Publishing Group
Enciso-Mora, V, Broderick, P, Ma, Y, Jarrett, R F, Hjalgrim, H, Hemminki, K, van den Berg, A, Olver, B, Lloyd, A, Dobbins, S E, Lightfoot, T, van Leeuwen, F E, Försti, A, Diepstra, A, Broeks, A, Vijayakrishnan, J, Shield, L, Lake, A, Montgomery, D, Roman, E, Engert, A, von Strandmann, E P, Reiners, K S, Nolte, I M, Smedby, K E, Adami, H-O, Russell, N S, Glimelius, B, Hamilton-Dutoit, S, de Bruin, M, Ryder, L P, Molin, D, Sorensen, K M, Chang, E T, Taylor, M, Cooke, R, Hofstra, R, Westers, H, van Wezel, T, van Eijk, R, Ashworth, A, Rostgaard, K, Melbye, M, Swerdlow, A J & Houlston, R S 2010, ' A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3) ', Nature Genetics, vol. 42, no. 12, pp. 1126-30 . https://doi.org/10.1038/ng.696
Nature Genetics; Vol 42
Nature Genetics
Nature Genetics, 42(12), 1126-1130. Nature Publishing Group
Nature Genetics, 42(12), 1126
To identify susceptibility loci for classical Hodgkin's lymphoma (cHL), we conducted a genome-wide association study of 589 individuals with cHL (cases) and 5,199 controls with validation in four independent samples totaling 2,057 cases and 3,416 con