MedWorm.com provides a medical RSS filtering service. Over 6000 RSS medical sources are combined and output via different filters. This feed contains the latest items from the 'Nature Genetics' source. Thu, 09 Feb 2012 09:43:44 +0100 http://www.medworm.com/index.php?rid=5633793&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F6M-pqfTVVfY%2Fng.1089 Authors: Jonathan M J Derry, Lara M Mangravite, Christine Suver, Matthew D Furia, David Henderson, Xavier Schildwachter, Brian Bot, Jonathan Izant, Solveig K Sieberts, Michael R Kellen & Stephen H Friend (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633793 Fri, 27 Jan 2012 05:00:00 +0100 5633793 http://www.medworm.com/index.php?rid=5633792&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FPCANYLldrmo%2Fng.1054 Authors: Susanna-Assunta Sansone, Philippe Rocca-Serra, Dawn Field, Eamonn Maguire, Chris Taylor, Oliver Hofmann, Hong Fang, Steffen Neumann, Weida Tong, Linda Amaral-Zettler, Kimberly Begley, Tim Booth, Lydie Bougueleret, Gully Burns, Brad Chapman, Tim Clark, Lee-Ann Coleman, Jay Copeland, Sudeshna Das, Antoine de Daruvar, Paula de Matos, Ian Dix, Scott Edmunds, Chris T Evelo, Mark J Forster, Pascale Gaudet, Jack Gilbert, Carole Goble, Julian L Griffin, Daniel Jacob, Jos Kleinjans, Lee Harland, Kenneth Haug, Henning Hermjakob, Shannan J Ho Sui, Alain Laederach, Shaoguang Liang, Stephen Marshall, Annette McGrath, Emily Merrill, Dorothy Reilly, Magali Roux, Caroline E Shamu, Catherine A Shang, Christoph Steinbeck, Anne Trefethen, Bryn Williams-Jones, Katherine Wolstencroft, Ioannis Xenarios... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633792 Fri, 27 Jan 2012 05:00:00 +0100 5633792 http://www.medworm.com/index.php?rid=5633791&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2Fbn90Pk7Wcuw%2Fng.1097 Nature Genetics 44, 120 (2012). doi:10.1038/ng.1097 Author: Wayne Peng (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633791 Fri, 27 Jan 2012 05:00:00 +0100 5633791 http://www.medworm.com/index.php?rid=5633790&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FF7c-PXAfHl4%2Fng.1096 Nature Genetics 44, 120 (2012). doi:10.1038/ng.1096 Author: Orli Bahcall (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633790 Fri, 27 Jan 2012 05:00:00 +0100 5633790 http://www.medworm.com/index.php?rid=5633789&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F_Tbil7JDAuw%2Fng.1095 Nature Genetics 44, 120 (2012). doi:10.1038/ng.1095 Author: Kyle Vogan (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633789 Fri, 27 Jan 2012 05:00:00 +0100 5633789 http://www.medworm.com/index.php?rid=5633788&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F_2mjrEZOIBs%2Fng.1094 Nature Genetics 44, 120 (2012). doi:10.1038/ng.1094 Author: Pamela Feliciano (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633788 Fri, 27 Jan 2012 05:00:00 +0100 5633788 http://www.medworm.com/index.php?rid=5633787&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2Fh-KH60u2JDI%2Fng.1093 Nature Genetics 44, 120 (2012). doi:10.1038/ng.1093 Author: Pamela Feliciano (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633787 Fri, 27 Jan 2012 05:00:00 +0100 5633787 http://www.medworm.com/index.php?rid=5633786&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FC6nU0Xn6kTs%2Fng.1088 Authors: Mikel Zaratiegui & Robert Martienssen One of the most striking properties of RNA interference (RNAi) in Caenorhabditis elegans is its persistence in offspring after the triggering double-stranded RNA (dsRNA) has disappeared. A new study reveals that a heterochromatic silencing mark is deposited around the targets of RNAi and is transmitted through generations. These results show that RNAi can induce stable and heritable chromatin modifications in animals. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633786 Fri, 27 Jan 2012 05:00:00 +0100 5633786 http://www.medworm.com/index.php?rid=5633785&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FGpWxL9HRMM4%2Fng.1082 Authors: Makedonka Mitreva The sequencing of the genome and transcriptome of Schistosoma haematobium, a highly prevalent blood fluke and human parasite with a proven link to malignant bladder cancer, marks the 160th anniversary of its discovery as the first schistosome known to infect humans. Comparative genomic analyses of S. haematobium and the more prevalent human-schistosomiasis pathogens (Schistosoma mansoni and Schistosoma japonicum) identified both shared and distinct genomic features. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633785 Fri, 27 Jan 2012 05:00:00 +0100 5633785 http://www.medworm.com/index.php?rid=5633784&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FIqiyprC159o%2Fng.1079 Authors: Brandon Gaut A new study reports SNP genotypes of over 1,300 Arabidopsis thaliana accessions from throughout Eurasia, providing a resource for genome-wide association studies and studies of local adaptation. The extensive data are also used to identify targets of natural selection and to describe genome-wide patterns of recombination. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633784 Fri, 27 Jan 2012 05:00:00 +0100 5633784 http://www.medworm.com/index.php?rid=5633783&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2Ftey2HrEQ28E%2Fng.1101 Nature Genetics 44, 114 (2012). doi:10.1038/ng.1101 Author: Hadrian A L Green (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633783 Fri, 27 Jan 2012 05:00:00 +0100 5633783 http://www.medworm.com/index.php?rid=5633782&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F8ceQR2ACGqw%2Fng.1052 Authors: Brendan K. Bulik-Sullivan & Patrick F. Sullivan (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633782 Fri, 27 Jan 2012 05:00:00 +0100 5633782 http://www.medworm.com/index.php?rid=5633781&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FREO34yLtPL4%2Fng.1099 Nature Genetics 44, 111 (2012). doi:10.1038/ng.1099 Researchers, funders and journals are in broad agreement that data must be accessible to support the conclusions of scientific publications and for the research to have impact. What is lacking is agreement on timing, formatting and attribution. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633781 Fri, 27 Jan 2012 05:00:00 +0100 5633781 http://www.medworm.com/index.php?rid=5633810&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FQlCN8FH0wWw%2Fng.1065 Authors: Neil D Young, Aaron R Jex, Bo Li, Shiping Liu, Linfeng Yang, Zijun Xiong, Yingrui Li, Cinzia Cantacessi, Ross S Hall, Xun Xu, Fangyuan Chen, Xuan Wu, Adhemar Zerlotini, Guilherme Oliveira, Andreas Hofmann, Guojie Zhang, Xiaodong Fang, Yi Kang, Bronwyn E Campbell, Alex Loukas, Shoba Ranganathan, David Rollinson, Gabriel Rinaldi, Paul J Brindley, Huanming Yang, Jun Wang, Jian Wang & Robin B Gasser Schistosomiasis is a neglected tropical disease caused by blood flukes (genus Schistosoma; schistosomes) and affecting 200 million people worldwide. No vaccines are available, and treatment relies on one drug, praziquantel. Schistosoma haematobium has come into the spotlight as a major cause of urogenital disease, as an agent linked to bladder cancer and as a predisposing factor for HI... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633810 Sun, 15 Jan 2012 05:00:00 +0100 5633810 http://www.medworm.com/index.php?rid=5633809&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2Fj5d8VqrDczU%2Fng.1033 Authors: Christian Riedelsheimer, Angelika Czedik-Eysenberg, Christoph Grieder, Jan Lisec, Frank Technow, Ronan Sulpice, Thomas Altmann, Mark Stitt, Lothar Willmitzer & Albrecht E Melchinger Maize is both an exciting model organism in plant genetics and also the most important crop worldwide for food, animal feed and bioenergy production. Recent genome-wide association and metabolic profiling studies aimed to resolve quantitative traits to their causal genetic loci and key metabolic regulators. Here we present a complementary approach that exploits large-scale genomic and metabolic information to predict complex, highly polygenic traits in hybrid testcrosses. We crossed 285 diverse Dent inbred lines from worldwide sources with two testers and predicted their combining abilities for sev... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633809 Sun, 15 Jan 2012 05:00:00 +0100 5633809 http://www.medworm.com/index.php?rid=5633805&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FPqRH4FAmNaE%2Fng.1078 Authors: Ji Eun Lee, Jennifer L Silhavy, Maha S Zaki, Jana Schroth, Stephanie L Bielas, Sarah E Marsh, Jesus Olvera, Francesco Brancati, Miriam Iannicelli, Koji Ikegami, Andrew M Schlossman, Barry Merriman, Tania Attié-Bitach, Clare V Logan, Ian A Glass, Andrew Cluckey, Carrie M Louie, Jeong Ho Lee, Hilary R Raynes, Isabelle Rapin, Ignacio P Castroviejo, Mitsutoshi Setou, Clara Barbot, Eugen Boltshauser, Stanley F Nelson, Friedhelm Hildebrandt, Colin A Johnson, Daniel A Doherty, Enza Maria Valente & Joseph G Gleeson Tubulin glutamylation is a post-translational modification that occurs predominantly in the ciliary axoneme and has been suggested to be important for ciliary function. However, its relationship to disorders of the primary cilium, termed ciliopathies, has not been expl... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633805 Sun, 15 Jan 2012 05:00:00 +0100 5633805 http://www.medworm.com/index.php?rid=5633801&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F40SHSp7We2Y%2Fng.1070 We report here that ABCG2 comprises the molecular basis of a new blood group system (Junior, Jr) and that individuals of the Jr(a−) blood type have inherited two null alleles of ABCG2. We identified five frameshift and three nonsense mutations in ABCG2. We also show that the prevalence of the Jr(a−) blood type in the Japanese and European Gypsy populations is related to the p.Gln126* and p.Arg236* protein alterations, respectively. The identification of ABCG2−/− (Jr(a−)) individuals who appear phenotypically normal is an essential step toward targeting ABCG2 in cancer and also in understanding the physiological and pharmacological roles of this promiscuous transporter in humans. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633801 Sun, 15 Jan 2012 05:00:00 +0100 5633801 http://www.medworm.com/index.php?rid=5633800&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FyLUNGCG4iEE%2Fng.1069 Authors: Virginie Helias, Carole Saison, Bryan A Ballif, Thierry Peyrard, Junko Takahashi, Hideo Takahashi, Mitsunobu Tanaka, Jean-Charles Deybach, Hervé Puy, Maude Le Gall, Camille Sureau, Bach-Nga Pham, Pierre-Yves Le Pennec, Yoshihiko Tani, Jean-Pierre Cartron & Lionel Arnaud The human ATP-binding cassette (ABC) transporter ABCB6 has been described as a mitochondrial porphyrin transporter essential for heme biosynthesis, but it is also suspected to contribute to anticancer drug resistance, as do other ABC transporters located at the plasma membrane. We identified ABCB6 as the genetic basis of the Lan blood group antigen expressed on red blood cells but also at the plasma membrane of hepatocellular carcinoma (HCC) cells, and we established that ABCB6 encodes a new blood group sy... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633800 Sun, 15 Jan 2012 05:00:00 +0100 5633800 http://www.medworm.com/index.php?rid=5633796&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FodEm53ePTp4%2Fng.1056 Authors: Anaïs Grall, Eric Guaguère, Sandrine Planchais, Susanne Grond, Emmanuelle Bourrat, Ingrid Hausser, Christophe Hitte, Matthieu Le Gallo, Céline Derbois, Gwang-Jin Kim, Laëtitia Lagoutte, Frédérique Degorce-Rubiales, Franz P W Radner, Anne Thomas, Sébastien Küry, Emmanuel Bensignor, Jacques Fontaine, Didier Pin, Robert Zimmermann, Rudolf Zechner, Mark Lathrop, Francis Galibert, Catherine André & Judith Fischer (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633796 Sun, 15 Jan 2012 05:00:00 +0100 5633796 http://www.medworm.com/index.php?rid=5633794&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FpkWeTjGvtMs%2Fng.1075 ABCG2 null alleles define the Jr(a−) blood group phenotype Nature Genetics 44, 131 (2012). doi:10.1038/ng.1075 Authors: Teresa Zelinski, Gail Coghlan, Xiao-Qing Liu & Marion E Reid The high-incidence erythrocyte blood group antigen Jra has been known in transfusion medicine for over 40 years. To identify the gene encoding Jra, we performed SNP analysis of genomic DNA from six Jr(a−) individuals. All individuals shared a homozygous region of 397,000 bp at chromosome 4q22.1 that contained the gene ABCG2, and DNA sequence analysis showed that ABCG2 null alleles define the Jr(a−) phenotype. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633794 Sun, 15 Jan 2012 05:00:00 +0100 5633794 http://www.medworm.com/index.php?rid=5633811&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2Fh1_zfYG31MY%2Fng.1028 Authors: Zamin Iqbal, Mario Caccamo, Isaac Turner, Paul Flicek & Gil McVean (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633811 Sun, 08 Jan 2012 05:00:00 +0100 5633811 http://www.medworm.com/index.php?rid=5633808&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FHJTD8QrbYns%2Fng.1042 Authors: Matthew W Horton, Angela M Hancock, Yu S Huang, Christopher Toomajian, Susanna Atwell, Adam Auton, N Wayan Muliyati, Alexander Platt, F Gianluca Sperone, Bjarni J Vilhjálmsson, Magnus Nordborg, Justin O Borevitz & Joy Bergelson Arabidopsis thaliana is native to Eurasia and is naturalized across the world. Its ability to be easily propagated and its high phenotypic variability make it an ideal model system for functional, ecological and evolutionary genetics. To date, analyses of the natural genetic variation of A. thaliana have involved small numbers of individual plants or genetic markers. Here we genotype 1,307 worldwide accessions, including several regional samples, using a 250K SNP chip. This allowed us to produce a high-resolution description of the global pattern o... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633808 Sun, 08 Jan 2012 05:00:00 +0100 5633808 http://www.medworm.com/index.php?rid=5633807&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FS79ZdYVJ4Jk%2Fng.1066 We report that doubling MECP2 levels causes heightened anxiety and autism-like features in mice and alters the expression of genes that influence anxiety and social behavior, such as Crh and Oprm1. To test the hypothesis that alterations in these two genes contribute to heightened anxiety and social behavior deficits, we analyzed MECP2 duplication mice (MECP2-TG1) that have reduced Crh and Oprm1 expression. In MECP2-TG1 animals, reducing the levels of Crh or its receptor, Crhr1, suppressed anxiety-like behavior; in contrast, reducing Oprm1 expression improved abnormal social behavior. These data indicate that increased MeCP2 levels affect molecular pathways underlying anxiety and social behavior and provide new insight into potential therapies for MECP2-related disorders. (Source: Nature G... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633807 Sun, 08 Jan 2012 05:00:00 +0100 5633807 http://www.medworm.com/index.php?rid=5633798&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2Fw76kehiVGFw%2Fng.1039 Authors: Sam Guoping Gu, Julia Pak, Shouhong Guang, Jay M Maniar, Scott Kennedy & Andrew Fire (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633798 Sun, 08 Jan 2012 05:00:00 +0100 5633798 http://www.medworm.com/index.php?rid=5633797&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FEfT5QP9oVzM%2Fng.1064 Authors: Stefan Bonn, Robert P Zinzen, Charles Girardot, E Hilary Gustafson, Alexis Perez-Gonzalez, Nicolas Delhomme, Yad Ghavi-Helm, Bartek Wilczyński, Andrew Riddell & Eileen E M Furlong (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633797 Sun, 08 Jan 2012 05:00:00 +0100 5633797 http://www.medworm.com/index.php?rid=5548725&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2Fmi600XQBvlI%2Fng.1063 Nature Genetics 44, 15 (2012). doi:10.1038/ng.1063 Author: Pamela Feliciano (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548725 Tue, 27 Dec 2011 05:00:00 +0100 5548725 http://www.medworm.com/index.php?rid=5548724&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F4jpTysrN9VA%2Fng.1062 Nature Genetics 44, 15 (2012). doi:10.1038/ng.1062 Author: Wayne Peng (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548724 Tue, 27 Dec 2011 05:00:00 +0100 5548724 http://www.medworm.com/index.php?rid=5548723&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FCwX04QlmNXA%2Fng.1061 Nature Genetics 44, 15 (2012). doi:10.1038/ng.1061 Author: Orli Bahcall (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548723 Tue, 27 Dec 2011 05:00:00 +0100 5548723 http://www.medworm.com/index.php?rid=5548722&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FfvkgU4eTwh4%2Fng.1060 Nature Genetics 44, 15 (2012). doi:10.1038/ng.1060 Author: Kyle Vogan (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548722 Tue, 27 Dec 2011 05:00:00 +0100 5548722 http://www.medworm.com/index.php?rid=5548721&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FrmLZTolfDUw%2Fng.1059 Nature Genetics 44, 15 (2012). doi:10.1038/ng.1059 Author: Pamela Feliciano (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548721 Tue, 27 Dec 2011 05:00:00 +0100 5548721 http://www.medworm.com/index.php?rid=5548720&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F9HhABQrjr-o%2Fng.1043 Authors: Jennifer J Trowbridge & Stuart H Orkin DNA methylation is an epigenetic mark stably directing gene expression throughout development. A new study uncovers a role for the DNA methyltransferase Dnmt3a in silencing self-renewal genes in hematopoietic stem cells (HSCs) to permit efficient hematopoietic differentiation. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548720 Tue, 27 Dec 2011 05:00:00 +0100 5548720 http://www.medworm.com/index.php?rid=5548719&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F6xiC79T4wsg%2Fng.1048 Authors: Adam Z Rosenthal & Michael B Elowitz A new study reports the development of the 'morbidostat', a device that allows for continuous culture of bacteria under a constant drug selection pressure using computer feedback control of antibiotic concentration. This device, together with bacterial whole-genome sequencing, allowed the authors to follow the evolution of resistance-conferring mutations in Escherichia coli populations in real time, providing support for deterministic evolution of resistance in some situations. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548719 Tue, 27 Dec 2011 05:00:00 +0100 5548719 http://www.medworm.com/index.php?rid=5548718&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FJoYnQlaekts%2Fng.1045 Authors: Christopher N Hahn & Hamish S Scott Recent studies, including two in this issue, report heterozygous missense mutations in the U2AF1 and SF3B1 genes that encode spliceosome subunits. U2AF1 is frequently mutated in myeloid hematopoietic malignancies, especially in myelodysplastic syndrome (MDS), and SF3B1 is frequently mutated in both MDS and chronic lymphocytic leukemia (CLL). (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548718 Tue, 27 Dec 2011 05:00:00 +0100 5548718 http://www.medworm.com/index.php?rid=5548717&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F3Pu07QKCYEU%2Fng.1044 Authors: Zhaoming Wang, Kevin B Jacobs, Meredith Yeager, Amy Hutchinson, Joshua Sampson, Nilanjan Chatterjee, Demetrius Albanes, Sonja I Berndt, Charles C Chung, W Ryan Diver, Susan M Gapstur, Lauren R Teras, Christopher A Haiman, Brian E Henderson, Daniel Stram, Xiang Deng, Ann W Hsing, Jarmo Virtamo, Michael A Eberle, Jennifer L Stone, Mark P Purdue, Phil Taylor, Margaret Tucker & Stephen J Chanock (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548717 Tue, 27 Dec 2011 05:00:00 +0100 5548717 http://www.medworm.com/index.php?rid=5548716&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2Fou126RAmjG4%2Fng.1037 Authors: Karen A Hunt, Deborah J Smyth, Tobias Balschun, Maria Ban, Vanisha Mistry, Tariq Ahmad, Vidya Anand, Jeffrey C Barrett, Leena Bhaw-Rosun, Nicholas A Bockett, Oliver J Brand, Elisabeth Brouwer, Patrick Concannon, Jason D Cooper, Kerith-Rae M Dias, Cleo C van Diemen, Patrick C Dubois, Sarah Edkins, Regina Fölster-Holst, Karin Fransen, David N Glass, Graham A R Heap, Sylvia Hofmann, Tom W J Huizinga, Sarah Hunt, Cordelia Langford, James Lee, John Mansfield, Maria Giovanna Marrosu, Christopher G Mathew, Charles A Mein, Joachim Müller-Quernheim, Sarah Nutland, Suna Onengut-Gumuscu, Willem Ouwehand, Kerra Pearce, Natalie J Prescott, Marcel D Posthumus, Simon Potter, Giulio Rosati, Jennifer Sambrook, Jack Satsangi, Stefan Schreiber, Corina Shtir, Matthew J Simmonds, Marc Sudman... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548716 Tue, 27 Dec 2011 05:00:00 +0100 5548716 http://www.medworm.com/index.php?rid=5548715&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FPNiXANP8xcY%2Fng.1057 Nature Genetics 44, 1 (2012). doi:10.1038/ng.1057 Every instance of a variant in the human genome causing or correlated with a trait deserves to be databased and analyzed. As a consequence of rapidly evolving technology and strategies, more of the mutational spectrum of human disease is now accessible to research. Advised by our referees' progressively higher standards, we continue to select the most informative and useful results. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548715 Tue, 27 Dec 2011 05:00:00 +0100 5548715 http://www.medworm.com/index.php?rid=5633806&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FLj8FzuPpc7Q%2Fng.1027 Authors: Rosa Rademakers, Matt Baker, Alexandra M Nicholson, Nicola J Rutherford, NiCole Finch, Alexandra Soto-Ortolaza, Jennifer Lash, Christian Wider, Aleksandra Wojtas, Mariely DeJesus-Hernandez, Jennifer Adamson, Naomi Kouri, Christina Sundal, Elizabeth A Shuster, Jan Aasly, James MacKenzie, Sigrun Roeber, Hans A Kretzschmar, Bradley F Boeve, David S Knopman, Ronald C Petersen, Nigel J Cairns, Bernardino Ghetti, Salvatore Spina, James Garbern, Alexandros C Tselis, Ryan Uitti, Pritam Das, Jay A Van Gerpen, James F Meschia, Shawn Levy, Daniel F Broderick, Neill Graff-Radford, Owen A Ross, Bradley B Miller, Russell H Swerdlow, Dennis W Dickson & Zbigniew K Wszolek Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal-dominant central nervous system white-matter ... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633806 Sun, 25 Dec 2011 05:00:00 +0100 5633806 http://www.medworm.com/index.php?rid=5633804&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FI7djelIO_Is%2Fng.1017 Authors: Lavinia Paternoster, Marie Standl, Chih-Mei Chen, Adaikalavan Ramasamy, Klaus Bønnelykke, Liesbeth Duijts, Manuel A Ferreira, Alexessander Couto Alves, Jacob P Thyssen, Eva Albrecht, Hansjörg Baurecht, Bjarke Feenstra, Patrick M A Sleiman, Pirro Hysi, Nicole M Warrington, Ivan Curjuric, Ronny Myhre, John A Curtin, Maria M Groen-Blokhuis, Marjan Kerkhof, Annika Sääf, Andre Franke, David Ellinghaus, Regina Fölster-Holst, Emmanouil Dermitzakis, Stephen B Montgomery, Holger Prokisch, Katharina Heim, Anna-Liisa Hartikainen, Anneli Pouta, Juha Pekkanen, Alexandra I F Blakemore, Jessica L Buxton, Marika Kaakinen, David L Duffy, Pamela A Madden, Andrew C Heath, Grant W Montgomery, Philip J Thompson, Melanie C Matheson, Peter Le Souëf, Beate St. Pourcain, Geor... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633804 Sun, 25 Dec 2011 05:00:00 +0100 5633804 http://www.medworm.com/index.php?rid=5633803&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FF7zC5uWpx0k%2Fng.1040 Authors: Zhibin Hu, Yankai Xia, Xuejiang Guo, Juncheng Dai, HongGang Li, Hongliang Hu, Yue Jiang, Feng Lu, Yibo Wu, Xiaoyu Yang, Huizhang Li, Bing Yao, Chuncheng Lu, Chenliang Xiong, Zheng Li, Yaoting Gui, Jiayin Liu, Zuomin Zhou, Hongbing Shen, Xinru Wang & Jiahao Sha Non-obstructive azoospermia (NOA) is one of the most severe forms of male infertility. Its pathophysiology is largely unknown, and few genetic influences have been defined. To identify common variants contributing to NOA in Han Chinese men, we performed a three-stage genome-wide association study of 2,927 individuals with NOA and 5,734 controls. The combined analyses identified significant (P < 5.0 × 10−8) associations between NOA risk and common variants near PRMT6 (rs12097821 at 1p13.3: odds ratio (OR) = ... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633803 Sun, 25 Dec 2011 05:00:00 +0100 5633803 http://www.medworm.com/index.php?rid=5633802&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FnX8L_7OdorY%2Fng.1047 Authors: Xue-Qing Yu, Ming Li, Hong Zhang, Hui-Qi Low, Xin Wei, Jin-Quan Wang, Liang-Dan Sun, Kar-Seng Sim, Yi Li, Jia-Nee Foo, Wei Wang, Zhi-Jian Li, Xian-Yong Yin, Xue-Qing Tang, Li Fan, Jian Chen, Rong-Shan Li, Jian-Xin Wan, Zhang-Suo Liu, Tan-Qi Lou, Li Zhu, Xiao-Jun Huang, Xue-Jun Zhang, Zhi-Hong Liu & Jian-Jun Liu We performed a two-stage genome-wide association study of IgA nephropathy (IgAN) in Han Chinese, with 1,434 affected individuals (cases) and 4,270 controls in the discovery phase and follow-up of the top 61 SNPs in an additional 2,703 cases and 3,464 controls. We identified associations at 17p13 (rs3803800, P = 9.40 × 10−11, OR = 1.21; rs4227, P = 4.31 × 10−10, OR = 1.23) and 8p23 (rs2738048, P = 3.18 × 10−14, OR = 0.79) that implicated ... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633802 Sun, 25 Dec 2011 05:00:00 +0100 5633802 http://www.medworm.com/index.php?rid=5633799&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2Fpyh3sGPOXqs%2Fng.1041 Authors: Mitchell S Stark, Susan L Woods, Michael G Gartside, Vanessa F Bonazzi, Ken Dutton-Regester, Lauren G Aoude, Donald Chow, Chris Sereduk, Natalie M Niemi, Nanyun Tang, Jonathan J Ellis, Jeffrey Reid, Victoria Zismann, Sonika Tyagi, Donna Muzny, Irene Newsham, YuanQing Wu, Jane M Palmer, Thomas Pollak, David Youngkin, Bradford R Brooks, Catherine Lanagan, Christopher W Schmidt, Bostjan Kobe, Jeffrey P MacKeigan, Hongwei Yin, Kevin M Brown, Richard Gibbs, Jeffrey Trent & Nicholas K Hayward We sequenced eight melanoma exomes to identify new somatic mutations in metastatic melanoma. Focusing on the mitogen-activated protein (MAP) kinase kinase kinase (MAP3K) family, we found that 24% of melanoma cell lines have mutations in the protein-coding regions of either MAP3K5 or MAP3K9. Str... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633799 Sun, 25 Dec 2011 05:00:00 +0100 5633799 http://www.medworm.com/index.php?rid=5633795&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FfUXVWgBTOzg%2Fng.1026 Authors: Sergey I Nikolaev, Donata Rimoldi, Christian Iseli, Armand Valsesia, Daniel Robyr, Corinne Gehrig, Keith Harshman, Michel Guipponi, Olesya Bukach, Vincent Zoete, Olivier Michielin, Katja Muehlethaler, Daniel Speiser, Jacques S Beckmann, Ioannis Xenarios, Thanos D Halazonetis, C Victor Jongeneel, Brian J Stevenson & Stylianos E Antonarakis (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5633795 Sun, 25 Dec 2011 05:00:00 +0100 5633795 http://www.medworm.com/index.php?rid=5548742&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FbELOoxfUQAE%2Fng.1038 Authors: Iñaki Comas, Sonia Borrell, Andreas Roetzer, Graham Rose, Bijaya Malla, Midori Kato-Maeda, James Galagan, Stefan Niemann & Sebastien Gagneux Epidemics of drug-resistant bacteria emerge worldwide, even as resistant strains frequently have reduced fitness compared to their drug-susceptible counterparts. Data from model systems suggest that the fitness cost of antimicrobial resistance can be reduced by compensatory mutations; however, there is limited evidence that compensatory evolution has any significant role in the success of drug-resistant bacteria in human populations. Here we describe a set of compensatory mutations in the RNA polymerase genes of rifampicin-resistant M. tuberculosis, the etiologic agent of human tuberculosis (TB). M. tuberculosis strains harboring the... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548742 Sun, 18 Dec 2011 05:00:00 +0100 5548742 http://www.medworm.com/index.php?rid=5548741&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FEcXEF4e3x8M%2Fng.1034 Authors: Erdal Toprak, Adrian Veres, Jean-Baptiste Michel, Remy Chait, Daniel L Hartl & Roy Kishony Antibiotic resistance can evolve through the sequential accumulation of multiple mutations. To study such gradual evolution, we developed a selection device, the 'morbidostat', that continuously monitors bacterial growth and dynamically regulates drug concentrations, such that the evolving population is constantly challenged. We analyzed the evolution of resistance in Escherichia coli under selection with single drugs, including chloramphenicol, doxycycline and trimethoprim. Over a period of ∼20 days, resistance levels increased dramatically, with parallel populations showing similar phenotypic trajectories. Whole-genome sequencing of the evolved strains identified mutations both s... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548741 Sun, 18 Dec 2011 05:00:00 +0100 5548741 http://www.medworm.com/index.php?rid=5548740&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F0-zmLaEIogE%2Fng.1036 Authors: Vijay K Tiwari, Michael B Stadler, Christiane Wirbelauer, Renato Paro, Dirk Schübeler & Christian Beisel Signaling mediates cellular responses to extracellular stimuli. The c-Jun NH2-terminal kinase (JNK) pathway exemplifies one subgroup of the mitogen-activated protein (MAP) kinases, which, besides having established functions in stress response, also contribute to development by an unknown mechanism. We show by genome-wide location analysis that JNK binds to a large set of active promoters during the differentiation of stem cells into neurons. JNK-bound promoters are enriched with binding motifs for the transcription factor NF-Y but not for AP-1. NF-Y occupies these predicted sites, and overexpression of dominant-negative NF-YA reduces the JNK presence on chromatin. We ... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548740 Sun, 18 Dec 2011 05:00:00 +0100 5548740 http://www.medworm.com/index.php?rid=5548738&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FC7tY4BTQkVM%2Fng.1016 Authors: Carine Le Goff, Clémentine Mahaut, Avinash Abhyankar, Wilfried Le Goff, Valérie Serre, Alexandra Afenjar, Anne Destrée, Maja di Rocco, Delphine Héron, Sébastien Jacquemont, Sandrine Marlin, Marleen Simon, John Tolmie, Alain Verloes, Jean-Laurent Casanova, Arnold Munnich & Valérie Cormier-Daire Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay. Using exome sequencing of individuals with Myhre syndrome, we identified SMAD4 as a candidate gene that contributes to this syndrome on the basis of its pivotal role in the bone morphogenetic pathway (BMP) and transforming growth factor (TGF)-β signaling. We identified three... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548738 Sun, 11 Dec 2011 05:00:00 +0100 5548738 http://www.medworm.com/index.php?rid=5548735&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FJDug98-A9zM%2Fng.1019 Authors: Yoon Shin Cho, Chien-Hsiun Chen, Cheng Hu, Jirong Long, Rick Twee Hee Ong, Xueling Sim, Fumihiko Takeuchi, Ying Wu, Min Jin Go, Toshimasa Yamauchi, Yi-Cheng Chang, Soo Heon Kwak, Ronald C W Ma, Ken Yamamoto, Linda S Adair, Tin Aung, Qiuyin Cai, Li-Ching Chang, Yuan-Tsong Chen, Yutang Gao, Frank B Hu, Hyung-Lae Kim, Sangsoo Kim, Young Jin Kim, Jeannette Jen-Mai Lee, Nanette R Lee, Yun Li, Jian Jun Liu, Wei Lu, Jiro Nakamura, Eitaro Nakashima, Daniel Peng-Keat Ng, Wan Ting Tay, Fuu-Jen Tsai, Tien Yin Wong, Mitsuhiro Yokota, Wei Zheng, Rong Zhang, Congrong Wang, Wing Yee So, Keizo Ohnaka, Hiroshi Ikegami, Kazuo Hara, Young Min Cho, Nam H Cho, Tien-Jyun Chang, Yuqian Bao, Åsa K Hedman, Andrew P Morris, Mark I McCarthy, Ryoichi Takayanagi, Kyong Soo Park, Weiping Jia, Lee-Ming Chu... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548735 Sun, 11 Dec 2011 05:00:00 +0100 5548735 http://www.medworm.com/index.php?rid=5548734&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FuUn8CzuzN_s%2Fng.1020 Authors: Chen Wu, Xiaoping Miao, Liming Huang, Xu Che, Guoliang Jiang, Dianke Yu, Xianghong Yang, Guangwen Cao, Zhibin Hu, Yongjian Zhou, Chaohui Zuo, Chunyou Wang, Xianghong Zhang, Yifeng Zhou, Xianjun Yu, Wanjin Dai, Zhaoshen Li, Hongbing Shen, Luming Liu, Yanling Chen, Sheng Zhang, Xiaoqi Wang, Kan Zhai, Jiang Chang, Yu Liu, Menghong Sun, Wei Cao, Jun Gao, Ying Ma, Xiongwei Zheng, Siu Tim Cheung, Yongfeng Jia, Jian Xu, Wen Tan, Ping Zhao, Tangchun Wu, Chengfeng Wang & Dongxin Lin Pancreatic cancer has the lowest survival rate among human cancers, and there are no effective markers for its screening and early diagnosis. To identify genetic susceptibility markers for this cancer, we carried out a genome-wide association study on 981 individuals with pancreatic cancer (cases) and 1,991... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548734 Sun, 11 Dec 2011 05:00:00 +0100 5548734 http://www.medworm.com/index.php?rid=5548732&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FoJGhYzLcaoU%2Fng.1031 Authors: Timothy A Graubert, Dong Shen, Li Ding, Theresa Okeyo-Owuor, Cara L Lunn, Jin Shao, Kilannin Krysiak, Christopher C Harris, Daniel C Koboldt, David E Larson, Michael D McLellan, David J Dooling, Rachel M Abbott, Robert S Fulton, Heather Schmidt, Joelle Kalicki-Veizer, Michelle O'Laughlin, Marcus Grillot, Jack Baty, Sharon Heath, John L Frater, Talat Nasim, Daniel C Link, Michael H Tomasson, Peter Westervelt, John F DiPersio, Elaine R Mardis, Timothy J Ley, Richard K Wilson & Matthew J Walter Myelodysplastic syndromes (MDS) are hematopoietic stem cell disorders that often progress to chemotherapy-resistant secondary acute myeloid leukemia (sAML). We used whole-genome sequencing to perform an unbiased comprehensive screen to discover the somatic mutations in a sample from an ind... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548732 Sun, 11 Dec 2011 05:00:00 +0100 5548732 http://www.medworm.com/index.php?rid=5548731&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FN37YIKIA52c%2Fng.1032 Authors: Víctor Quesada, Laura Conde, Neus Villamor, Gonzalo R Ordóñez, Pedro Jares, Laia Bassaganyas, Andrew J Ramsay, Sílvia Beà, Magda Pinyol, Alejandra Martínez-Trillos, Mónica López-Guerra, Dolors Colomer, Alba Navarro, Tycho Baumann, Marta Aymerich, María Rozman, Julio Delgado, Eva Giné, Jesús M Hernández, Marcos González-Díaz, Diana A Puente, Gloria Velasco, José M P Freije, José M C Tubío, Romina Royo, Josep L Gelpí, Modesto Orozco, David G Pisano, Jorge Zamora, Miguel Vázquez, Alfonso Valencia, Heinz Himmelbauer, Mónica Bayés, Simon Heath, Marta Gut, Ivo Gut, Xavier Estivill, Armando López-Guillermo, Xose S Puente, Elías Campo & Carlos López-Otín Here we... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548731 Sun, 11 Dec 2011 05:00:00 +0100 5548731 http://www.medworm.com/index.php?rid=5548727&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F1EC7I1zySzA%2Fng.1035 We report de novo heterozygous inactivating mutations in GATA6 in 15/27 (56%) individuals with pancreatic agenesis. These findings define the most common cause of human pancreatic agenesis and establish a key role for the transcription factor GATA6 in human pancreatic development. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548727 Sun, 11 Dec 2011 05:00:00 +0100 5548727 http://www.medworm.com/index.php?rid=5548739&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FeyMTwCq7gMk%2Fng.1006 Authors: Dalit May, Matthew J Blow, Tommy Kaplan, David J McCulley, Brian C Jensen, Jennifer A Akiyama, Amy Holt, Ingrid Plajzer-Frick, Malak Shoukry, Crystal Wright, Veena Afzal, Paul C Simpson, Edward M Rubin, Brian L Black, James Bristow, Len A Pennacchio & Axel Visel Development and function of the human heart depend on the dynamic control of tissue-specific gene expression by distant-acting transcriptional enhancers. To generate an accurate genome-wide map of human heart enhancers, we used an epigenomic enhancer discovery approach and identified ∼6,200 candidate enhancer sequences directly from fetal and adult human heart tissue. Consistent with their predicted function, these elements were markedly enriched near genes implicated in heart development, function and disease. T... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548739 Sun, 04 Dec 2011 05:00:00 +0100 5548739 http://www.medworm.com/index.php?rid=5548737&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FTppKpFGFBuk%2Fng.1013 Authors: Josephine Elia, Joseph T Glessner, Kai Wang, Nagahide Takahashi, Corina J Shtir, Dexter Hadley, Patrick M A Sleiman, Haitao Zhang, Cecilia E Kim, Reid Robison, Gholson J Lyon, James H Flory, Jonathan P Bradfield, Marcin Imielinski, Cuiping Hou, Edward C Frackelton, Rosetta M Chiavacci, Takeshi Sakurai, Cara Rabin, Frank A Middleton, Kelly A Thomas, Maria Garris, Frank Mentch, Christine M Freitag, Hans-Christoph Steinhausen, Alexandre A Todorov, Andreas Reif, Aribert Rothenberger, Barbara Franke, Eric O Mick, Herbert Roeyers, Jan Buitelaar, Klaus-Peter Lesch, Tobias Banaschewski, Richard P Ebstein, Fernando Mulas, Robert D Oades, Joseph Sergeant, Edmund Sonuga-Barke, Tobias J Renner, Marcel Romanos, Jasmin Romanos, Andreas Warnke, Susanne Walitza, Jobst Meyer, Haukur Pálmason,... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548737 Sun, 04 Dec 2011 05:00:00 +0100 5548737 http://www.medworm.com/index.php?rid=5548736&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FsB5_SV-PyOI%2Fng.1005 Authors: Zhiming Lin, Jin-Xin Bei, Meixin Shen, Qiuxia Li, Zetao Liao, Yanli Zhang, Qing Lv, Qiujing Wei, Hui-Qi Low, Yun-Miao Guo, Shuangyan Cao, Mingcan Yang, Zaiying Hu, Manlong Xu, Xinwei Wang, Yanlin Wei, Li Li, Chao Li, Tianwang Li, Jianlin Huang, Yunfeng Pan, Ou Jin, Yuqiong Wu, Jing Wu, Zishi Guo, Peigen He, Shaoxian Hu, Husheng Wu, Hui Song, Feng Zhan, Shengyun Liu, Guanmin Gao, Zhangsuo Liu, Yinong Li, Changhong Xiao, Juan Li, Zhizhong Ye, Weizhen He, Dongzhou Liu, Lingxun Shen, Anbin Huang, Henglian Wu, Yi Tao, Xieping Pan, Buyun Yu, E Shyong Tai, Yi-Xin Zeng, Ee Chee Ren, Yan Shen, Jianjun Liu & Jieruo Gu To identify susceptibility loci for ankylosing spondylitis, we performed a two-stage genome-wide association study in Han Chinese. In the discovery stage, we analyzed 1,35... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548736 Sun, 04 Dec 2011 05:00:00 +0100 5548736 http://www.medworm.com/index.php?rid=5548729&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FFb4ulB5yhGs%2Fng.1018 Authors: Xuehui Huang, Yan Zhao, Xinghua Wei, Canyang Li, Ahong Wang, Qiang Zhao, Wenjun Li, Yunli Guo, Liuwei Deng, Chuanrang Zhu, Danlin Fan, Yiqi Lu, Qijun Weng, Kunyan Liu, Taoying Zhou, Yufeng Jing, Lizhen Si, Guojun Dong, Tao Huang, Tingting Lu, Qi Feng, Qian Qian, Jiayang Li & Bin Han (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548729 Sun, 04 Dec 2011 05:00:00 +0100 5548729 http://www.medworm.com/index.php?rid=5548728&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F0Vxh3j2Rg_Q%2Fng.1009 Authors: Grant A Challen, Deqiang Sun, Mira Jeong, Min Luo, Jaroslav Jelinek, Jonathan S Berg, Christoph Bock, Aparna Vasanthakumar, Hongcang Gu, Yuanxin Xi, Shoudan Liang, Yue Lu, Gretchen J Darlington, Alexander Meissner, Jean-Pierre J Issa, Lucy A Godley, Wei Li & Margaret A Goodell (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548728 Sun, 04 Dec 2011 05:00:00 +0100 5548728 http://www.medworm.com/index.php?rid=5548726&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FeVYyfkc8kno%2Fng.1014 Authors: Guangwu Guo, Yaoting Gui, Shengjie Gao, Aifa Tang, Xueda Hu, Yi Huang, Wenlong Jia, Zesong Li, Minghui He, Liang Sun, Pengfei Song, Xiaojuan Sun, Xiaokun Zhao, Sangming Yang, Chaozhao Liang, Shengqing Wan, Fangjian Zhou, Chao Chen, Jialou Zhu, Xianxin Li, Minghan Jian, Liang Zhou, Rui Ye, Peide Huang, Jing Chen, Tao Jiang, Xiao Liu, Yong Wang, Jing Zou, Zhimao Jiang, Renhua Wu, Song Wu, Fan Fan, Zhongfu Zhang, Lin Liu, Ruilin Yang, Xingwang Liu, Haibo Wu, Weihua Yin, Xia Zhao, Yuchen Liu, Huanhuan Peng, Binghua Jiang, Qingxin Feng, Cailing Li, Jun Xie, Jingxiao Lu, Karsten Kristiansen, Yingrui Li, Xiuqing Zhang, Songgang Li, Jian Wang, Huanming Yang, Zhiming Cai & Jun Wang We sequenced whole exomes of ten clear cell renal cell carcinomas (ccRCCs) and performed a screen of &#87... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548726 Sun, 04 Dec 2011 05:00:00 +0100 5548726 http://www.medworm.com/index.php?rid=5453093&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FiTVV7knBnwQ%2Fng.1024 Nature Genetics 43, 1178 (2011). doi:10.1038/ng.1024 Author: Kyle Vogan (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453093 Mon, 28 Nov 2011 05:00:00 +0100 5453093 http://www.medworm.com/index.php?rid=5453092&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FSB6WCbL_6cE%2Fng.1023 Nature Genetics 43, 1178 (2011). doi:10.1038/ng.1023 Author: Wayne Peng (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453092 Mon, 28 Nov 2011 05:00:00 +0100 5453092 http://www.medworm.com/index.php?rid=5453091&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2Fc6irjZUm5kI%2Fng.1022 Nature Genetics 43, 1178 (2011). doi:10.1038/ng.1022 Author: Pamela Feliciano (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453091 Mon, 28 Nov 2011 05:00:00 +0100 5453091 http://www.medworm.com/index.php?rid=5453090&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FhIILA_mnOJo%2Fng.1021 Nature Genetics 43, 1178 (2011). doi:10.1038/ng.1021 Author: Pamela Feliciano (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453090 Mon, 28 Nov 2011 05:00:00 +0100 5453090 http://www.medworm.com/index.php?rid=5453089&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FcUmHIUjbJVE%2Fng.1025 Nature Genetics 43, 1178 (2011). doi:10.1038/ng.1025 Author: Orli Bahcall (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453089 Mon, 28 Nov 2011 05:00:00 +0100 5453089 http://www.medworm.com/index.php?rid=5453088&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F83d0UpoYYlM%2Fng.1012 Nature Genetics 43, 1176 (2011). doi:10.1038/ng.1012 Author: Alan F. Wright A careful analysis of risk haplotypes in relation to age-related macular degeneration (AMD) susceptibility has led to the identification of a rare, high-penetrance variant in the complement factor H (CFH) gene that is also causally associated with atypical hemolytic uremic syndrome (aHUS) and related glomerulopathies. This finding provides a convincing causal mechanism linking the two diseases and develops a paradigm for the genetic architecture of a common and complex disease. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453088 Mon, 28 Nov 2011 05:00:00 +0100 5453088 http://www.medworm.com/index.php?rid=5453087&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FOTX1eUnvCLM%2Fng.1011 Nature Genetics 43, 1174 (2011). doi:10.1038/ng.1011 Author: Richard E. Lenski The combination of genomic, epidemiological and evolutionary analyses provides a powerful toolbox for understanding how pathogens adapt to their human hosts. By sequencing 112 Burkholderia dolosa genomes from an outbreak among patients with cystic fibrosis, a new study documents evolution in action and identifies a set of genes that contributed to the pathogen's adaptation. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453087 Mon, 28 Nov 2011 05:00:00 +0100 5453087 http://www.medworm.com/index.php?rid=5453086&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FGQVdyMweMwo%2Fng.1015 Nature Genetics 43, 1173 (2011). doi:10.1038/ng.1015 Author: Constantin Polychronakos An efficient way to design genotyping arrays for fine mapping is to group phenotypes with common biology. The first application of the Immunochip to celiac disease provides an insightful view of what this strategy can achieve. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453086 Mon, 28 Nov 2011 05:00:00 +0100 5453086 http://www.medworm.com/index.php?rid=5453085&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FgdPkz6bHHsM%2Fng.1010 Authors: Xionglei He, Xiaoshu Chen, Yuanyan Xiong, Zhidong Chen, Xunzhang Wang, Suhua Shi, Xueqin Wang & Jianzhi Zhang (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453085 Mon, 28 Nov 2011 05:00:00 +0100 5453085 http://www.medworm.com/index.php?rid=5453084&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F__JGoadOb0w%2Fng.992 Authors: Hong Lin, John A Halsall, Philipp Antczak, Laura P O'Neill, Francesco Falciani & Bryan M Turner (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453084 Mon, 28 Nov 2011 05:00:00 +0100 5453084 http://www.medworm.com/index.php?rid=5453083&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FhL3Jsme4thk%2Fng.991 Authors: Peter V Kharchenko, Ruibin Xi & Peter J Park (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453083 Mon, 28 Nov 2011 05:00:00 +0100 5453083 http://www.medworm.com/index.php?rid=5453082&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2Fbe4tL9tE1R0%2Fng.1030 Nature Genetics 43, 1165 (2011). doi:10.1038/ng.1030 How can we get more therapies into preclinical testing and increase the proportion that succeed in preclinical testing? How can we increase the efficacy of therapies? How can we ensure that therapies are developed for rare diseases? (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453082 Mon, 28 Nov 2011 05:00:00 +0100 5453082 http://www.medworm.com/index.php?rid=5548733&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FzUldznNjH84%2Fng.993 Authors: Peter Broderick, Daniel Chubb, David C Johnson, Niels Weinhold, Asta Försti, Amy Lloyd, Bianca Olver, Yussanne P Ma, Sara E Dobbins, Brian A Walker, Faith E Davies, Walter A Gregory, J Anthony Child, Fiona M Ross, Graham H Jackson, Kai Neben, Anna Jauch, Per Hoffmann, Thomas W Mühleisen, Markus M Nöthen, Susanne Moebus, Ian P Tomlinson, Hartmut Goldschmidt, Kari Hemminki, Gareth J Morgan & Richard S Houlston To identify risk variants for multiple myeloma, we conducted a genome-wide association study of 1,675 individuals with multiple myeloma and 5,903 control subjects. We identified risk loci for multiple myeloma at 3p22.1 (rs1052501 in ULK4; odds ratio (OR) = 1.32; P = 7.47 × 10−9) and 7p15.3 (rs4487645, OR = 1.38; P = 3.33 × 10−15). In ad... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548733 Sun, 27 Nov 2011 05:00:00 +0100 5548733 http://www.medworm.com/index.php?rid=5548730&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FO5tmLVXcUYM%2Fng.969 Regions of focal DNA hypermethylation and long-range hypomethylation in colorectal cancer coincide with nuclear lamina–associated domains Nature Genetics 44, 40 (2012). doi:10.1038/ng.969 Authors: Benjamin P Berman, Daniel J Weisenberger, Joseph F Aman, Toshinori Hinoue, Zachary Ramjan, Yaping Liu, Houtan Noushmehr, Christopher P E Lange, Cornelis M van Dijk, Rob A E M Tollenaar, David Van Den Berg & Peter W Laird Extensive changes in DNA methylation are common in cancer and may contribute to oncogenesis through transcriptional silencing of tumor-suppressor genes. Genome-scale studies have yielded important insights into these changes but have focused on CpG islands or gene promoters. We used whole-genome bisulfite sequencing (bisulfite-seq) to comprehensively profile a ... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5548730 Sun, 27 Nov 2011 05:00:00 +0100 5548730 http://www.medworm.com/index.php?rid=5453108&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FhYyVVkwmUXk%2Fng.1008 Authors: Wan-Jin Chen, Yu Lin, Zhi-Qi Xiong, Wei Wei, Wang Ni, Guo-He Tan, Shun-Ling Guo, Jin He, Ya-Fang Chen, Qi-Jie Zhang, Hong-Fu Li, Yi Lin, Shen-Xing Murong, Jianfeng Xu, Ning Wang & Zhi-Ying Wu Paroxysmal kinesigenic dyskinesia is the most common type of paroxysmal movement disorder and is often misdiagnosed clinically as epilepsy. Using whole-exome sequencing followed by Sanger sequencing, we identified three truncating mutations within PRRT2 (NM_145239.2) in eight Han Chinese families with histories of paroxysmal kinesigenic dyskinesia: c.514_517delTCTG (p.Ser172Argfs*3) in one family, c.649dupC (p.Arg217Profs*8) in six families and c.972delA (p.Val325Serfs*12) in one family. These truncating mutations co-segregated exactly with the disease in these families and we... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453108 Sun, 20 Nov 2011 05:00:00 +0100 5453108 http://www.medworm.com/index.php?rid=5453096&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F6YUtr71ZTl8%2Fng.995 Authors: Clare V Logan, Barbara Lucke, Caroline Pottinger, Zakia A Abdelhamed, David A Parry, Katarzyna Szymanska, Christine P Diggle, Anne van Riesen, Joanne E Morgan, Grace Markham, Ian Ellis, Adnan Y Manzur, Alexander F Markham, Mike Shires, Tim Helliwell, Mariacristina Scoto, Christoph Hübner, David T Bonthron, Graham R Taylor, Eamonn Sheridan, Francesco Muntoni, Ian M Carr, Markus Schuelke & Colin A Johnson Infantile myopathies with diaphragmatic paralysis are genetically heterogeneous, and clinical symptoms do not assist in differentiating between them. We used phased haplotype analysis with subsequent targeted exome sequencing to identify MEGF10 mutations in a previously unidentified type of infantile myopathy with diaphragmatic weakness, areflexia, respiratory distress and... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453096 Sun, 20 Nov 2011 05:00:00 +0100 5453096 http://www.medworm.com/index.php?rid=5453113&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FwdYxDl2oWts%2Fng.997 Authors: Tami D Lieberman, Jean-Baptiste Michel, Mythili Aingaran, Gail Potter-Bynoe, Damien Roux, Michael R Davis, David Skurnik, Nicholas Leiby, John J LiPuma, Joanna B Goldberg, Alexander J McAdam, Gregory P Priebe & Roy Kishony Bacterial pathogens evolve during the infection of their human host, but separating adaptive and neutral mutations remains challenging. Here we identify bacterial genes under adaptive evolution by tracking recurrent patterns of mutations in the same pathogenic strain during the infection of multiple individuals. We conducted a retrospective study of a Burkholderia dolosa outbreak among subjects with cystic fibrosis, sequencing the genomes of 112 isolates collected from 14 individuals over 16 years. We find that 17 bacterial genes acquired nonsynonymous mutat... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453113 Sun, 13 Nov 2011 05:00:00 +0100 5453113 http://www.medworm.com/index.php?rid=5453112&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FAhkqktpYp7A%2Fng.1007 Authors: Rob Jelier, Jennifer I Semple, Rosa Garcia-Verdugo & Ben Lehner A central challenge in genetics is to predict phenotypic variation from individual genome sequences. Here we construct and evaluate phenotypic predictions for 19 strains of Saccharomyces cerevisiae. We use conservation-based methods to predict the impact of protein-coding variation within genes on protein function. We then rank strains using a prediction score that measures the total sum of function-altering changes in different sets of genes reported to influence over 100 phenotypes in genome-wide loss-of-function screens. We evaluate our predictions by comparing them with the observed growth rate and efficiency of 15 strains tested across 20 conditions in quantitative experiments. The median predictive performan... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453112 Sun, 13 Nov 2011 05:00:00 +0100 5453112 http://www.medworm.com/index.php?rid=5453106&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2Fmm40GHwmvEE%2Fng.981 Authors: Chiea Chuen Khor, Sonia Davila, Willemijn B Breunis, Yi-Ching Lee, Chisato Shimizu, Victoria J Wright, Rae S M Yeung, Dennis E K Tan, Kar Seng Sim, Jie Jin Wang, Tien Yin Wong, Junxiong Pang, Paul Mitchell, Rolando Cimaz, Nagib Dahdah, Yiu-Fai Cheung, Guo-Ying Huang, Wanling Yang, In-Sook Park, Jong-Keuk Lee, Jer-Yuarn Wu, Michael Levin, Jane C Burns, David Burgner, Taco W Kuijpers & Martin L Hibberd Kawasaki disease is a systemic vasculitis of unknown etiology, with clinical observations suggesting a substantial genetic contribution to disease susceptibility. We conducted a genome-wide association study and replication analysis in 2,173 individuals with Kawasaki disease and 9,383 controls from five independent sample collections. Two loci exceeded the formal threshold for gen... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453106 Sun, 13 Nov 2011 05:00:00 +0100 5453106 http://www.medworm.com/index.php?rid=5453110&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2Fg7tFX58BJK8%2Fng.994 Authors: M Fernanda Amary, Stephen Damato, Dina Halai, Malihe Eskandarpour, Fitim Berisha, Fiona Bonar, Stan McCarthy, Valeria R Fantin, Kimberly S Straley, Samira Lobo, Will Aston, Claire L Green, Rosemary E Gale, Roberto Tirabosco, Andrew Futreal, Peter Campbell, Nadège Presneau & Adrienne M Flanagan Ollier disease and Maffucci syndrome are characterized by multiple central cartilaginous tumors that are accompanied by soft tissue hemangiomas in Maffucci syndrome. We show that in 37 of 40 individuals with these syndromes, at least one tumor has a mutation in isocitrate dehydrogenase 1 (IDH1) or in IDH2, 65% of which result in a R132C substitution in the protein. In 18 of 19 individuals with more than one tumor analyzed, all tumors from a given individual shared the same IDH1 muta... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453110 Sun, 06 Nov 2011 04:00:00 +0100 5453110 http://www.medworm.com/index.php?rid=5453109&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FHHf20-dadDw%2Fng.1004 We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. Fourteen of 16 subjects had identical mutations in separate lesions. Immunohistochemistry to detect mutant IDH1 R132H protein suggested intraneoplastic and somatic mosaicism. IDH1 mutations in cartilage tumors were associated with hypermethylation and downregulated expression of several genes. Mutations were also found in 40% of solitary central cart... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453109 Sun, 06 Nov 2011 04:00:00 +0100 5453109 http://www.medworm.com/index.php?rid=5453098&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FMFEcdBizdm4%2Fng.990 Authors: H Nikki March, Alistair G Rust, Nicholas A Wright, Jelle ten Hoeve, Jeroen de Ridder, Matthew Eldridge, Louise van der Weyden, Anton Berns, Jules Gadiot, Anthony Uren, Richard Kemp, Mark J Arends, Lodewyk F A Wessels, Douglas J Winton & David J Adams (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453098 Sun, 06 Nov 2011 04:00:00 +0100 5453098 http://www.medworm.com/index.php?rid=5453097&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F8TzgqLvf0n0%2Fng.998 Authors: Gosia Trynka, Karen A Hunt, Nicholas A Bockett, Jihane Romanos, Vanisha Mistry, Agata Szperl, Sjoerd F Bakker, Maria Teresa Bardella, Leena Bhaw-Rosun, Gemma Castillejo, Emilio G de la Concha, Rodrigo Coutinho de Almeida, Kerith-Rae M Dias, Cleo C van Diemen, Patrick C A Dubois, Richard H Duerr, Sarah Edkins, Lude Franke, Karin Fransen, Javier Gutierrez, Graham A R Heap, Barbara Hrdlickova, Sarah Hunt, Leticia Plaza Izurieta, Valentina Izzo, Leo A B Joosten, Cordelia Langford, Maria Cristina Mazzilli, Charles A Mein, Vandana Midah, Mitja Mitrovic, Barbara Mora, Marinita Morelli, Sarah Nutland, Concepción Núñez, Suna Onengut-Gumuscu, Kerra Pearce, Mathieu Platteel, Isabel Polanco, Simon Potter, Carmen Ribes-Koninckx, Isis Ricaño-Ponce, Stephen S Rich, Anna Rybak... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453097 Sun, 06 Nov 2011 04:00:00 +0100 5453097 http://www.medworm.com/index.php?rid=5453103&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FGNBwhn82bYc%2Fng.979 Authors: Wei-Hua Yue, Hai-Feng Wang, Liang-Dan Sun, Fu-Lei Tang, Zhong-Hua Liu, Hong-Xing Zhang, Wen-Qiang Li, Yan-Ling Zhang, Yang Zhang, Cui-Cui Ma, Bo Du, Li-Fang Wang, Yun-Qing Ren, Yong-Feng Yang, Xiao-Feng Hu, Yi Wang, Wei Deng, Li-Wen Tan, Yun-Long Tan, Qi Chen, Guang-Ming Xu, Gui-Gang Yang, Xian-bo Zuo, Hao Yan, Yan-Yan Ruan, Tian-Lan Lu, Xue Han, Xiao-Hong Ma, Yan Wang, Li-Wei Cai, Chao Jin, Hong-Yan Zhang, Jun Yan, Wei-Feng Mi, Xian-Yong Yin, Wen-Bin Ma, Qi Liu, Lan Kang, Wei Sun, Cheng-Ying Pan, Mei Shuang, Fu-De Yang, Chuan-Yue Wang, Jian-Li Yang, Ke-Qing Li, Xin Ma, Ling-Jiang Li, Xin Yu, Qi-Zhai Li, Xun Huang, Lu-Xian Lv, Tao Li, Guo-Ping Zhao, Wei Huang, Xue-Jun Zhang & Dai Zhang To identify susceptibility loci for schizophrenia, we performed a two-stage genome-wide asso... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453103 Sun, 30 Oct 2011 04:00:00 +0100 5453103 http://www.medworm.com/index.php?rid=5453102&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FSl3AxKvb-as%2Fng.980 Authors: Yongyong Shi, Zhiqiang Li, Qi Xu, Ti Wang, Tao Li, Jiawei Shen, Fengyu Zhang, Jianhua Chen, Guoquan Zhou, Weidong Ji, Baojie Li, Yifeng Xu, Dengtang Liu, Peng Wang, Ping Yang, Benxiu Liu, Wensheng Sun, Chunling Wan, Shengying Qin, Guang He, Stacy Steinberg, Sven Cichon, Thomas Werge, Engilbert Sigurdsson, Sarah Tosato, Aarno Palotie, Markus M Nöthen, Marcella Rietschel, Roel A Ophoff, David A Collier, Dan Rujescu, David St Clair, Hreinn Stefansson, Kari Stefansson, Jue Ji, Qingzhong Wang, Wenjin Li, Linqing Zheng, Hairong Zhang, Guoyin Feng & Lin He Schizophrenia is a severe mental disorder affecting ∼1% of the world population, with heritability of up to 80%. To identify new common genetic risk factors, we performed a genome-wide association study (GWAS) in the Han... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453102 Sun, 30 Oct 2011 04:00:00 +0100 5453102 http://www.medworm.com/index.php?rid=5453101&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F8v_68keA_wI%2Fng.982 Authors: Kai Wang, Junsuo Kan, Siu Tsan Yuen, Stephanie T Shi, Kent Man Chu, Simon Law, Tsun Leung Chan, Zhengyan Kan, Annie S Y Chan, Wai Yin Tsui, Siu Po Lee, Siu Lun Ho, Anthony K W Chan, Grace H W Cheng, Peter C Roberts, Paul A Rejto, Neil W Gibson, David J Pocalyko, Mao Mao, Jiangchun Xu & Suet Yi Leung Gastric cancer is a heterogeneous disease with multiple environmental etiologies and alternative pathways of carcinogenesis. Beyond mutations in TP53, alterations in other genes or pathways account for only small subsets of the disease. We performed exome sequencing of 22 gastric cancer samples and identified previously unreported mutated genes and pathway alterations; in particular, we found genes involved in chromatin modification to be commonly mutated. A downstream validation s... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453101 Sun, 30 Oct 2011 04:00:00 +0100 5453101 http://www.medworm.com/index.php?rid=5453100&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FjEjoLk5Uv_8%2Fng.978 Authors: Yongyong Shi, Zhibin Hu, Chen Wu, Juncheng Dai, Huizhang Li, Jing Dong, Meilin Wang, Xiaoping Miao, Yifeng Zhou, Feng Lu, Hanze Zhang, Lingmin Hu, Yue Jiang, Zhiqiang Li, Minjie Chu, Hongxia Ma, Jiaping Chen, Guangfu Jin, Wen Tan, Tangchun Wu, Zhengdong Zhang, Dongxin Lin & Hongbing Shen Gastric cancer, including the cardia and non-cardia types, is the second leading cause of cancer-related deaths worldwide. To identify genetic risk variants for non-cardia gastric cancer, we performed a genome-wide association study in 3,279 individuals (1,006 with non-cardia gastric cancer and 2,273 controls) of Chinese descent. We replicated significant associations in an additional 6,897 subjects (3,288 with non-cardia gastric cancer and 3,609 controls). We identified two new susceptibility... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453100 Sun, 30 Oct 2011 04:00:00 +0100 5453100 http://www.medworm.com/index.php?rid=5453099&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F57JGmB7DyuA%2Fng.985 A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor–negative breast cancer Nature Genetics 43, 1210 (2011). doi:10.1038/ng.985 Authors: Christopher A Haiman, Gary K Chen, Celine M Vachon, Federico Canzian, Alison Dunning, Robert C Millikan, Xianshu Wang, Foluso Ademuyiwa, Shahana Ahmed, Christine B Ambrosone, Laura Baglietto, Rosemary Balleine, Elisa V Bandera, Matthias W Beckmann, Christine D Berg, Leslie Bernstein, Carl Blomqvist, William J Blot, Hiltrud Brauch, Julie E Buring, Lisa A Carey, Jane E Carpenter, Jenny Chang-Claude, Stephen J Chanock, Daniel I Chasman, Christine L Clarke, Angela Cox, Simon S Cross, Sandra L Deming, Robert B Diasio, Athanasios M Dimopoulos, W Ryan Driver, Thomas Dünnebier, Lorraine Durcan, Diana Eccles, Christop... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453099 Sun, 30 Oct 2011 04:00:00 +0100 5453099 http://www.medworm.com/index.php?rid=5353704&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FM8r_-r4Sqt4%2Fng1111-1164b Nature Genetics 43, 1164 (2011). doi:10.1038/ng1111-1164b Author: George F Mells, James A B Floyd, Katherine I Morley, Heather J Cordell, Christopher S Franklin, So-Youn Shin, Michael A Heneghan, James M Neuberger, Peter T Donaldson, Darren B Day, Samantha J Ducker, Agnes W Muriithi, Elizabeth F Wheater, Christopher J Hammond, Muhammad F Dawwas, David E Jones, Leena Peltonen, Graeme J Alexander, Richard N Sandford & Carl A Anderson (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353704 Thu, 27 Oct 2011 04:00:00 +0100 5353704 http://www.medworm.com/index.php?rid=5353703&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FHPIr5Z02Xc0%2Fng1111-1164a Nature Genetics 43, 1164 (2011). doi:10.1038/ng1111-1164a Author: Iris M Heid, Anne U Jackson, Joshua C Randall, Thomas W Winkler, Lu Qi, Valgerdur Steinthorsdottir, Gudmar Thorleifsson, M Carola Zillikens, Elizabeth K Speliotes, Reedik Mägi, Tsegaselassie Workalemahu, Charles C White, Nabila Bouatia-Naji, Tamara B Harris, Sonja I Berndt, Erik Ingelsson, Cristen J Willer, Michael N Weedon, Jian'an Luan, Sailaja Vedantam, Tõnu Esko, Tuomas O Kilpeläinen, Zoltán Kutalik, Shengxu Li, Keri L Monda, Anna L Dixon, Christopher C Holmes, Lee M Kaplan, Liming Liang, Josine L Min, Miriam F Moffatt, Cliona Molony, George Nicholson, Eric E Schadt, Krina T Zondervan, Mary F Feitosa, Teresa Ferreira, Hana Lango Allen, Robert J Weyant, Eleanor Wheeler, Andrew R Wood, Karol E... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353703 Thu, 27 Oct 2011 04:00:00 +0100 5353703 http://www.medworm.com/index.php?rid=5353685&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2Ff-lZF1jJnlE%2Fng.988 Authors: Larry Kedes & Grant Campany The Archon Genomics X Prize contest has been declared for January 2013. Larry Kedes and Grant Campany explain the selection of centenarian genomes for the contest and provide the rules by which the contestants will be judged. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353685 Thu, 27 Oct 2011 04:00:00 +0100 5353685 http://www.medworm.com/index.php?rid=5353684&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F7WeqEVSRnio%2Fng.1000 Nature Genetics 43, 1053 (2011). doi:10.1038/ng.1000 Author: Kyle Vogan (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353684 Thu, 27 Oct 2011 04:00:00 +0100 5353684 http://www.medworm.com/index.php?rid=5353683&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FsMY-TAHH0P4%2Fng.1001 Nature Genetics 43, 1053 (2011). doi:10.1038/ng.1001 Author: Emily Niemitz (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353683 Thu, 27 Oct 2011 04:00:00 +0100 5353683 http://www.medworm.com/index.php?rid=5353682&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FMtiWMSktWhk%2Fng.1003 Nature Genetics 43, 1053 (2011). doi:10.1038/ng.1003 Author: Pamela Feliciano (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353682 Thu, 27 Oct 2011 04:00:00 +0100 5353682 http://www.medworm.com/index.php?rid=5353681&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FFpdChHSTpaw%2Fng.1002 Cntnap2−/− autism model Nature Genetics 43, 1053 (2011). doi:10.1038/ng.1002 Author: Pamela Feliciano (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353681 Thu, 27 Oct 2011 04:00:00 +0100 5353681 http://www.medworm.com/index.php?rid=5353680&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FRYI04AZGloM%2Fng.999 Nature Genetics 43, 1053 (2011). doi:10.1038/ng.999 Author: Orli Bahcall (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353680 Thu, 27 Oct 2011 04:00:00 +0100 5353680 http://www.medworm.com/index.php?rid=5353679&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2Fc3ajYrlidgw%2Fng.987 Nature Genetics 43, 1050 (2011). doi:10.1038/ng.987 Author: Adrian Bird The origin of DNA methylation patterns has been a mystery for many years. A new study identifies the DNA sequence itself as a key determinant and focuses attention on the role of transcription factors. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353679 Thu, 27 Oct 2011 04:00:00 +0100 5353679 http://www.medworm.com/index.php?rid=5353678&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FRYlY5MqsGc8%2Fng.986 Nature Genetics 43, 1048 (2011). doi:10.1038/ng.986 Author: Miltos Tsiantis A new study shows an inserted retroelement in the regulatory sequences of the maize tb1 gene, which controls shoot branching, was the target of human selection during the domestication of maize from its wild relative teosinte. The insertion allele was already present at low frequency in teosinte populations before selection, highlighting the significance of standing genetic variation in the evolution of morphological diversity. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353678 Thu, 27 Oct 2011 04:00:00 +0100 5353678 http://www.medworm.com/index.php?rid=5353677&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F3JK0gAvB09A%2Fng.984 Authors: Myong-Hee Sung & Gordon L Hager Diversification and specialization of high-throughput technologies demand assay-specific treatment of data for reliable interpretation. A new study shows that data generated using the Hi-C approach contain hidden features of interchromosomal DNA interactions, which are revealed through analysis with an integrated probabilistic model that corrects for multiple sources of bias in the data. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353677 Thu, 27 Oct 2011 04:00:00 +0100 5353677 http://www.medworm.com/index.php?rid=5353676&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FzADcxde9Wn4%2Fng.983 Authors: Diego Micheletti, Michela Troggio, Francesco Salamini, Roberto Viola, Riccardo Velasco & Silvio Salvi (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353676 Thu, 27 Oct 2011 04:00:00 +0100 5353676 http://www.medworm.com/index.php?rid=5353674&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F1iFjRbdTCeU%2Fng.996 Nature Genetics 43, 1041 (2011). doi:10.1038/ng.996 (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353674 Thu, 27 Oct 2011 04:00:00 +0100 5353674 http://www.medworm.com/index.php?rid=5453111&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FmHJo1qaiFwI%2Fng.977 Authors: Yibo Li, Chuchuan Fan, Yongzhong Xing, Yunhe Jiang, Lijun Luo, Liang Sun, Di Shao, Chunjue Xu, Xianghua Li, Jinghua Xiao, Yuqing He & Qifa Zhang Increasing crop yield is one of the most important goals of plant science research. Grain size is a major determinant of grain yield in cereals and is a target trait for both domestication and artificial breeding. We showed that the quantitative trait locus (QTL) GS5 in rice controls grain size by regulating grain width, filling and weight. GS5 encodes a putative serine carboxypeptidase and functions as a positive regulator of grain size, such that higher expression of GS5 is correlated with larger grain size. Sequencing of the promoter region in 51 rice accessions from a wide geographic range identified three haplotypes that seem to ... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453111 Sun, 23 Oct 2011 04:00:00 +0100 5453111 http://www.medworm.com/index.php?rid=5453107&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FTjOZjSTRHUk%2Fng.973 Authors: Furen Zhang, Hong Liu, Shumin Chen, Huiqi Low, Liangdan Sun, Yong Cui, Tongsheng Chu, Yi Li, Xi'an Fu, Yongxiang Yu, Gongqi Yu, Benqing Shi, Hongqing Tian, Dianchang Liu, Xiulu Yu, Jinghui Li, Nan Lu, Fangfang Bao, Chunying Yuan, Jian Liu, Huaxu Liu, Lin Zhang, Yonghu Sun, Mingfei Chen, Qing Yang, Haitao Yang, Rongde Yang, Lianhua Zhang, Qiang Wang, Hong Liu, Fuguang Zuo, Haizhen Zhang, Chiea Chuen Khor, Martin L Hibberd, Sen Yang, Jianjun Liu & Xuejun Zhang We performed a genome-wide association study with 706 individuals with leprosy and 5,581 control individuals and replicated the top 24 SNPs in three independent replication samples, including a total of 3,301 individuals with leprosy and 5,299 control individuals from China. Two loci not previously associated with the dise... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453107 Sun, 23 Oct 2011 04:00:00 +0100 5453107 http://www.medworm.com/index.php?rid=5453105&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FSSR1WsnR9nc%2Fng.974 Authors: Yohei Takahashi, Ikuyo Kou, Atsushi Takahashi, Todd A Johnson, Katsuki Kono, Noriaki Kawakami, Koki Uno, Manabu Ito, Shohei Minami, Haruhisa Yanagida, Hiroshi Taneichi, Taichi Tsuji, Teppei Suzuki, Hideki Sudo, Toshiaki Kotani, Kota Watanabe, Kazuhiro Chiba, Naoya Hosono, Naoyuki Kamatani, Tatsuhiko Tsunoda, Yoshiaki Toyama, Michiaki Kubo, Morio Matsumoto & Shiro Ikegawa Adolescent idiopathic scoliosis is a pediatric spinal deformity affecting 2–3% of school-age children worldwide. Genetic factors have been implicated in its etiology. Through a genome-wide association study (GWAS) and replication study involving a total of 1,376 Japanese females with adolescent idiopathic scoliosis and 11,297 female controls, we identified a locus at chromosome 10q24.31 associated with a... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453105 Sun, 23 Oct 2011 04:00:00 +0100 5453105 http://www.medworm.com/index.php?rid=5453104&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FAPR7cQGD2Ig%2Fng.976 Authors: Soumya Raychaudhuri, Oleg Iartchouk, Kimberly Chin, Perciliz L Tan, Albert K Tai, Stephan Ripke, Sivakumar Gowrisankar, Soumya Vemuri, Kate Montgomery, Yi Yu, Robyn Reynolds, Donald J Zack, Betsy Campochiaro, Peter Campochiaro, Nicholas Katsanis, Mark J Daly & Johanna M Seddon Two common variants in the gene encoding complement factor H (CFH), the Y402H substitution (rs1061170, c.1204C>T) and the intronic rs1410996 SNP, explain 17% of age-related macular degeneration (AMD) liability. However, proof for the involvement of CFH, as opposed to a neighboring transcript, and knowledge of the potential mechanism of susceptibility alleles are lacking. Assuming that rare functional variants might provide mechanistic insights, we used genotype data and high-throughput sequencing to d... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453104 Sun, 23 Oct 2011 04:00:00 +0100 5453104 http://www.medworm.com/index.php?rid=5453095&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FVf6H_mKUaBA%2Fng.975 Authors: Sulaiman M Al-Mayouf, Asma Sunker, Reem Abdwani, Safiya Al Abrawi, Fathiya Almurshedi, Nadia Alhashmi, Abdullah Al Sonbul, Wafaa Sewairi, Aliya Qari, Eiman Abdallah, Mohammed Al-Owain, Saleh Al Motywee, Hanan Al-Rayes, Mais Hashem, Hanif Khalak, Latifa Al-Jebali & Fowzan S Alkuraya Systemic lupus erythematosus (SLE) is a complex autoimmune disease that causes substantial morbidity. As is typical for many other multifactorial disorders, much of the heritability of SLE remains unknown. We identified a rare autosomal recessive form of SLE, in which autozygome analysis revealed a null mutation in the DNASE1L3 gene. The DNASE1L3-related SLE we describe was always pediatric in onset and correlated with a high frequency of lupus nephritis. Our findings confirm the critical role of im... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453095 Sun, 23 Oct 2011 04:00:00 +0100 5453095 http://www.medworm.com/index.php?rid=5453094&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FVYEpEWcLtPc%2Fng.948 Authors: Xinxian Deng, Joseph B Hiatt, Di Kim Nguyen, Sevinc Ercan, David Sturgill, LaDeana W Hillier, Felix Schlesinger, Carrie A Davis, Valerie J Reinke, Thomas R Gingeras, Jay Shendure, Robert H Waterston, Brian Oliver, Jason D Lieb & Christine M Disteche (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5453094 Sun, 23 Oct 2011 04:00:00 +0100 5453094 http://www.medworm.com/index.php?rid=5353698&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F4lFhpwu1Pag%2Fng.960 Authors: Chiea Chuen Khor, Tran Nguyen Bich Chau, Junxiong Pang, Sonia Davila, Hoang Truong Long, Rick T H Ong, Sarah J Dunstan, Bridget Wills, Jeremy Farrar, Ta Van Tram, Tran Thi Gan, Nguyen Thi Nguyet Binh, Le Trung Tri, Le Bich Lien, Nguyen Minh Tuan, Nguyen Thi Hong Tham, Mai Ngoc Lanh, Nguyen Minh Nguyet, Nguyen Trong Hieu, Nguyen Van N Vinh Chau, Tran Thi Thuy, Dennis E K Tan, Anavaj Sakuntabhai, Yik-Ying Teo, Martin L Hibberd & Cameron P Simmons Hypovolemic shock (dengue shock syndrome (DSS)) is the most common life-threatening complication of dengue. We conducted a genome-wide association study of 2,008 pediatric cases treated for DSS and 2,018 controls from Vietnam. Replication of the most significantly associated markers was carried out in an independent Vietnamese sample of... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353698 Sun, 16 Oct 2011 04:00:00 +0100 5353698 http://www.medworm.com/index.php?rid=5353697&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F9UNeLJH0k70%2Fng.970 Authors: John C Chambers, Weihua Zhang, Joban Sehmi, Xinzhong Li, Mark N Wass, Pim Van der Harst, Hilma Holm, Serena Sanna, Maryam Kavousi, Sebastian E Baumeister, Lachlan J Coin, Guohong Deng, Christian Gieger, Nancy L Heard-Costa, Jouke-Jan Hottenga, Brigitte Kühnel, Vinod Kumar, Vasiliki Lagou, Liming Liang, Jian'an Luan, Pedro Marques Vidal, Irene Mateo Leach, Paul F O'Reilly, John F Peden, Nilufer Rahmioglu, Pasi Soininen, Elizabeth K Speliotes, Xin Yuan, Gudmar Thorleifsson, Behrooz Z Alizadeh, Larry D Atwood, Ingrid B Borecki, Morris J Brown, Pimphen Charoen, Francesco Cucca, Debashish Das, Eco J C de Geus, Anna L Dixon, Angela Döring, Georg Ehret, Gudmundur I Eyjolfsson, Martin Farrall, Nita G Forouhi, Nele Friedrich, Wolfram Goessling, Daniel F Gudbjartsson, Tamara B Har... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353697 Sun, 16 Oct 2011 04:00:00 +0100 5353697 http://www.medworm.com/index.php?rid=5353686&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FtxolCLKDQb8%2Fng.947 Authors: Eitan Yaffe & Amos Tanay (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353686 Sun, 16 Oct 2011 04:00:00 +0100 5353686 http://www.medworm.com/index.php?rid=5353700&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FxLJHnPqwBLA%2Fng.971 Authors: Joo-Hee Sir, Alexis R Barr, Adeline K Nicholas, Ofelia P Carvalho, Maryam Khurshid, Alex Sossick, Stefanie Reichelt, Clive D'Santos, C Geoffrey Woods & Fanni Gergely Autosomal recessive primary microcephaly (MCPH) is characterized by a substantial reduction in prenatal human brain growth without alteration of the cerebral architecture and is caused by biallelic mutations in genes coding for a subset of centrosomal proteins. Although at least three of these proteins have been implicated in centrosome duplication, the nature of the centrosome dysfunction that underlies the neurodevelopmental defect in MCPH is unclear. Here we report a homozygous MCPH-causing mutation in human CEP63. CEP63 forms a complex with another MCPH protein, CEP152, a conserved centrosome duplication facto... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353700 Sun, 09 Oct 2011 04:00:00 +0100 5353700 http://www.medworm.com/index.php?rid=5353696&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FCd-L70fXOgQ%2Fng.972 Authors: Patrick Sulem, Daniel F Gudbjartsson, G Bragi Walters, Hafdis T Helgadottir, Agnar Helgason, Sigurjon A Gudjonsson, Carlo Zanon, Soren Besenbacher, Gyda Bjornsdottir, Olafur T Magnusson, Gisli Magnusson, Eirikur Hjartarson, Jona Saemundsdottir, Arnaldur Gylfason, Adalbjorg Jonasdottir, Hilma Holm, Ari Karason, Thorunn Rafnar, Hreinn Stefansson, Ole A Andreassen, Jesper H Pedersen, Allan I Pack, Marieke C H de Visser, Lambertus A Kiemeney, Arni J Geirsson, Gudmundur I Eyjolfsson, Isleifur Olafsson, Augustine Kong, Gisli Masson, Helgi Jonsson, Unnur Thorsteinsdottir, Ingileif Jonsdottir & Kari Stefansson We tested 16 million SNPs, identified through whole-genome sequencing of 457 Icelanders, for association with gout and serum uric acid levels. Genotypes were imputed into 41,675... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353696 Sun, 09 Oct 2011 04:00:00 +0100 5353696 http://www.medworm.com/index.php?rid=5353694&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F2LORBdVKpm0%2Fng.958 Authors: Stuart MacGregor, Grant W Montgomery, Jimmy Z Liu, Zhen Zhen Zhao, Anjali K Henders, Mitchell Stark, Helen Schmid, Elizabeth A Holland, David L Duffy, Mingfeng Zhang, Jodie N Painter, Dale R Nyholt, Judith A Maskiell, Jodie Jetann, Megan Ferguson, Anne E Cust, Mark A Jenkins, David C Whiteman, Håkan Olsson, Susana Puig, Giovanna Bianchi-Scarrà, Johan Hansson, Florence Demenais, Maria Teresa Landi, Tadeusz Dębniak, Rona Mackie, Esther Azizi, Brigitte Bressac-de Paillerets, Alisa M Goldstein, Peter A Kanetsky, Nelleke A Gruis, David E Elder, Julia A Newton-Bishop, D Timothy Bishop, Mark M Iles, Per Helsing, Christopher I Amos, Qingyi Wei, Li-E Wang, Jeffrey E Lee, Abrar A Qureshi, Richard F Kefford, Graham G Giles, Bruce K Armstrong, Joanne F Aitken, Jiali Han, John L... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353694 Sun, 09 Oct 2011 04:00:00 +0100 5353694 http://www.medworm.com/index.php?rid=5353693&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FHFIJFPTfUlU%2Fng.959 We report a genome-wide association study for melanoma that was conducted by the GenoMEL Consortium. Our discovery phase included 2,981 individuals with melanoma and 1,982 study-specific control individuals of European ancestry, as well as an additional 6,426 control subjects from French or British populations, all of whom were genotyped for 317,000 or 610,000 single-nucleotide polymorphisms (SNPs). Our analysis replicated previously known melanoma susceptibility loci. Seven new regions with at least one SNP with P < 10−5 and further local imputed or genotyped support were selected for replication using two other genome-wide studies (from Australia and Texas, USA). Additional replication came from case-control series from the UK and The Netherlands. Variants at three of the seven ... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353693 Sun, 09 Oct 2011 04:00:00 +0100 5353693 http://www.medworm.com/index.php?rid=5353687&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F1PIAbIzaSDg%2Fng.952 Authors: Manuel A Rivas, Mélissa Beaudoin, Agnes Gardet, Christine Stevens, Yashoda Sharma, Clarence K Zhang, Gabrielle Boucher, Stephan Ripke, David Ellinghaus, Noel Burtt, Tim Fennell, Andrew Kirby, Anna Latiano, Philippe Goyette, Todd Green, Jonas Halfvarson, Talin Haritunians, Joshua M Korn, Finny Kuruvilla, Caroline Lagacé, Benjamin Neale, Ken Sin Lo, Phil Schumm, Leif Törkvist, Marla C Dubinsky, Steven R Brant, Mark S Silverberg, Richard H Duerr, David Altshuler, Stacey Gabriel, Guillaume Lettre, Andre Franke, Mauro D'Amato, Dermot P B McGovern, Judy H Cho, John D Rioux, Ramnik J Xavier & Mark J Daly (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353687 Sun, 09 Oct 2011 04:00:00 +0100 5353687 http://www.medworm.com/index.php?rid=5353699&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FUXhydzZ8ct4%2Fng.945 Authors: Shireen R Lamandé, Yuan Yuan, Irma L Gresshoff, Lynn Rowley, Daniele Belluoccio, Kumara Kaluarachchi, Christopher B Little, Elke Botzenhart, Klaus Zerres, David J Amor, William G Cole, Ravi Savarirayan, Peter McIntyre & John F Bateman Familial digital arthropathy-brachydactyly (FDAB) is a dominantly inherited condition that is characterized by aggressive osteoarthropathy of the fingers and toes and consequent shortening of the middle and distal phalanges. Here we show in three unrelated families that FDAB is caused by mutations encoding p.Gly270Val, p.Arg271Pro and p.Phe273Leu substitutions in the intracellular ankyrin-repeat domain of the cation channel TRPV4. Functional testing of mutant TRPV4 in HEK-293 cells showed that the mutant proteins have poor cell-surface local... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353699 Sun, 02 Oct 2011 04:00:00 +0100 5353699 http://www.medworm.com/index.php?rid=5353692&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FuGbyADmkv0c%2Fng.955 Authors: Thorunn Rafnar, Daniel F Gudbjartsson, Patrick Sulem, Aslaug Jonasdottir, Asgeir Sigurdsson, Adalbjorg Jonasdottir, Soren Besenbacher, Pär Lundin, Simon N Stacey, Julius Gudmundsson, Olafur T Magnusson, Louise le Roux, Gudbjorg Orlygsdottir, Hafdis T Helgadottir, Hrefna Johannsdottir, Arnaldur Gylfason, Laufey Tryggvadottir, Jon G Jonasson, Ana de Juan, Eugenia Ortega, Jose M Ramon-Cajal, Maria D García-Prats, Carlos Mayordomo, Angeles Panadero, Fernando Rivera, Katja K H Aben, Anne M van Altena, Leon F A G Massuger, Mervi Aavikko, Paula M Kujala, Synnöve Staff, Lauri A Aaltonen, Kristrun Olafsdottir, Johannes Bjornsson, Augustine Kong, Anna Salvarsdottir, Hafsteinn Saemundsson, Karl Olafsson, Kristrun R Benediktsdottir, Jeffrey Gulcher, Gisli Masson, Lambertus A Ki... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353692 Sun, 02 Oct 2011 04:00:00 +0100 5353692 http://www.medworm.com/index.php?rid=5353690&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FmcnTJskXGg4%2Fng.946 Authors: Florian Lienert, Christiane Wirbelauer, Indrani Som, Ann Dean, Fabio Mohn & Dirk Schübeler (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353690 Sun, 02 Oct 2011 04:00:00 +0100 5353690 http://www.medworm.com/index.php?rid=5353688&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F-1KLHceu3Bs%2Fng.944 Authors: Claudia M B Carvalho, Melissa B Ramocki, Davut Pehlivan, Luis M Franco, Claudia Gonzaga-Jauregui, Ping Fang, Alanna McCall, Eniko Karman Pivnick, Stacy Hines-Dowell, Laurie H Seaver, Linda Friehling, Sansan Lee, Rosemarie Smith, Daniela del Gaudio, Marjorie Withers, Pengfei Liu, Sau Wai Cheung, John W Belmont, Huda Y Zoghbi, P J Hastings & James R Lupski (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353688 Sun, 02 Oct 2011 04:00:00 +0100 5353688 http://www.medworm.com/index.php?rid=5266874&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F0U1VB1rRiI0%2Fng1011-1040a Nature Genetics 43, 1040 (2011). doi:10.1038/ng1011-1040a Author: Thorsten Thye, Fredrik O Vannberg, Sunny H Wong, Ellis Owusu-Dabo, Ivy Osei, John Gyapong, Giorgio Sirugo, Fatou Sisay-Joof, Anthony Enimil, Margaret A Chinbuah, Sian Floyd, David K Warndorff, Lifted Sichali, Simon Malema, Amelia C Crampin, Bagrey Ngwira, Yik Y Teo, Kerrin Small, Kirk Rockett, Dominic Kwiatkowski, Paul E Fine, Philip C Hill, Melanie Newport, Christian Lienhardt, Richard A Adegbola, Tumani Corrah, Andreas Ziegler, Andrew P Morris, Christian G Meyer, Rolf D Horstmann & Adrian V S Hill (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266874 Wed, 28 Sep 2011 04:00:00 +0100 5266874 http://www.medworm.com/index.php?rid=5266873&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FB_hpAYyOw1c%2Fng1011-1040c Nature Genetics 43, 1040 (2011). doi:10.1038/ng1011-1040c Author: Kerrin S Small, Åsa K Hedman, Elin Grundberg, Alexandra C Nica, Gudmar Thorleifsson, Augustine Kong, Unnur Thorsteindottir, So-Youn Shin, Hannah B Richards, Nicole Soranzo, Kourosh R Ahmadi, Cecilia M Lindgren, Kari Stefansson, Emmanouil T Dermitzakis, Panos Deloukas, Timothy D Spector & Mark I McCarthy (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266873 Wed, 28 Sep 2011 04:00:00 +0100 5266873 http://www.medworm.com/index.php?rid=5266872&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F1Haf_Rg4X8s%2Fng1011-1040b Nature Genetics 43, 1040 (2011). doi:10.1038/ng1011-1040b Author: Birgitte R Kornum, Minae Kawashima, Juliette Faraco, Ling Lin, Thomas J Rico, Stephanie Hesselson, Robert C Axtell, Hedwich Kuipers, Karin Weiner, Alexandra Hamacher, Matthias U Kassack, Fang Han, Stine Knudsen, Jing Li, Xiaosong Dong, Juliane Winkelmann, Giuseppe Plazzi, Sona Nevsimalova, Seung-Chul Hong, Yutaka Honda, Makoto Honda, Birgit Högl, Thanh G N Ton, Jacques Montplaisir, Patrice Bourgin, David Kemlink, Yu-Shu Huang, Simon Warby, Mali Einen, Jasmin L Eshragh, Taku Miyagawa, Alex Desautels, Elisabeth Ruppert, Per Egil Hesla, Francesca Poli, Fabio Pizza, Birgit Frauscher, Jong-Hyun Jeong, Sung-Pil Lee, Kingman P Strohl, William T Longstreth, Mark Kvale, Marie Dobrovolna, Maurice M Ohayon, Gerald T Nepo... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266872 Wed, 28 Sep 2011 04:00:00 +0100 5266872 http://www.medworm.com/index.php?rid=5266852&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FmJ_zdF8cJ4A%2Fng.967 Nature Genetics 43, 928 (2011). doi:10.1038/ng.967 Author: Kyle Vogan (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266852 Wed, 28 Sep 2011 04:00:00 +0100 5266852 http://www.medworm.com/index.php?rid=5266851&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FQxCBrh_uAeA%2Fng.964 Nature Genetics 43, 928 (2011). doi:10.1038/ng.964 Author: Kyle Vogan (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266851 Wed, 28 Sep 2011 04:00:00 +0100 5266851 http://www.medworm.com/index.php?rid=5266850&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FrV5qGHNHo38%2Fng.968 Nature Genetics 43, 928 (2011). doi:10.1038/ng.968 Author: Emily Niemitz (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266850 Wed, 28 Sep 2011 04:00:00 +0100 5266850 http://www.medworm.com/index.php?rid=5266849&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F2Juk0_IYx5I%2Fng.966 Nature Genetics 43, 928 (2011). doi:10.1038/ng.966 Author: Pamela Feliciano (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266849 Wed, 28 Sep 2011 04:00:00 +0100 5266849 http://www.medworm.com/index.php?rid=5266848&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FxHe1SSmOSt4%2Fng.965 Nature Genetics 43, 928 (2011). doi:10.1038/ng.965 Author: Pamela Feliciano (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266848 Wed, 28 Sep 2011 04:00:00 +0100 5266848 http://www.medworm.com/index.php?rid=5266847&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FPlX2hwaLwTM%2Fng.949 Authors: R. Katherine Hyde & P. Paul Liu Several new studies report mutations in the gene GATA2 in three different familial syndromes characterized by predisposition to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Before the onset of MDS and AML, patients with similar GATA2 mutations had distinct hematological abnormalities. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266847 Wed, 28 Sep 2011 04:00:00 +0100 5266847 http://www.medworm.com/index.php?rid=5266846&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FkbEdoyp56PE%2Fng.956 Nature Genetics 43, 925 (2011). doi:10.1038/ng.956 Author: Alisa M Goldstein Two new studies describe germline mutations in BAP1 in putatively dissimilar cancer-related syndromes. The spectrum of neoplasms associated with these germline mutations suggest that BAP1 has an important tumor suppressor function in multiple tissues. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266846 Wed, 28 Sep 2011 04:00:00 +0100 5266846 http://www.medworm.com/index.php?rid=5266845&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F1ADdstzJKK0%2Fng.953 Nature Genetics 43, 923 (2011). doi:10.1038/ng.953 Author: Jonathan K Pritchard Two new studies take distinct population genetic approaches to analyzing whole-genome sequencing data sets in order to estimate human demographic parameters. These papers refine our understanding of the relationships among human populations while illustrating both the possibilities and the statistical challenges of fitting demographic models to whole-genome data sets. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266845 Wed, 28 Sep 2011 04:00:00 +0100 5266845 http://www.medworm.com/index.php?rid=5266844&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FqYTqEZC-fu0%2Fng.961 Nature Genetics 43, 921 (2011). doi:10.1038/ng.961 Fostering scientific progress and ensuring that the community has access to human exome data can be difficult to do when faced with the divergent interests of patients, data generators, data funders and potential data users. We support the archiving of sensitive datasets in secure repositories with appropriate mechanisms in place to control access. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266844 Wed, 28 Sep 2011 04:00:00 +0100 5266844 http://www.medworm.com/index.php?rid=5353702&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FhSTUDrUrm5k%2Fng.942 Authors: Anthony Studer, Qiong Zhao, Jeffrey Ross-Ibarra & John Doebley Genetic diversity created by transposable elements is an important source of functional variation upon which selection acts during evolution. Transposable elements are associated with adaptation to temperate climates in Drosophila, a SINE element is associated with the domestication of small dog breeds from the gray wolf and there is evidence that transposable elements were targets of selection during human evolution. Although the list of examples of transposable elements associated with host gene function continues to grow, proof that transposable elements are causative and not just correlated with functional variation is limited. Here we show that a transposable element (Hopscotch) inserted in a regulatory region... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353702 Sun, 25 Sep 2011 04:00:00 +0100 5353702 http://www.medworm.com/index.php?rid=5353701&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F-2Ls7dAUHrs%2Fng.917 Authors: Vincent J Lynch, Robert D Leclerc, Gemma May & Günter P Wagner A fundamental challenge in biology is explaining the origin of novel phenotypic characters such as new cell types; the molecular mechanisms that give rise to novelties are unclear. We explored the gene regulatory landscape of mammalian endometrial cells using comparative RNA-Seq and found that 1,532 genes were recruited into endometrial expression in placental mammals, indicating that the evolution of pregnancy was associated with a large-scale rewiring of the gene regulatory network. About 13% of recruited genes are within 200 kb of a Eutherian-specific transposable element (MER20). These transposons have the epigenetic signatures of enhancers, insulators and repressors, directly bind transcription factors es... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353701 Sun, 25 Sep 2011 04:00:00 +0100 5353701 http://www.medworm.com/index.php?rid=5353695&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FERVxRfpzMQg%2Fng.950 In this study, we used exon capture and massively parallel sequencing methods to analyze the mutational status of 734 GPCRs in melanoma. This investigation revealed that one family member, GRM3, was frequently mutated and that one of its mutations clustered within one position. Biochemical analysis of GRM3 alterations revealed that mutant GRM3 selectively regulated the phosphorylation of MEK, leading to increased anchorage-independent growth and migration. Melanoma cells expressing mutant GRM3 had reduced cell growth and cellular migration after short hairpin RNA–mediated knockdown of GRM3 or treatment with a selective MEK inhibitor, AZD-6244, which is currently being used in phase 2 clinical trials. Our study yields the most comprehensive map of genetic alterations in the GPCR gene ... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353695 Sun, 25 Sep 2011 04:00:00 +0100 5353695 http://www.medworm.com/index.php?rid=5353691&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FMPTu-6UZUyc%2Fng.926 Authors: Simon N Stacey, Patrick Sulem, Aslaug Jonasdottir, Gisli Masson, Julius Gudmundsson, Daniel F Gudbjartsson, Olafur T Magnusson, Sigurjon A Gudjonsson, Bardur Sigurgeirsson, Kristin Thorisdottir, Rafn Ragnarsson, Kristrun R Benediktsdottir, Bjørn A Nexø, Anne Tjønneland, Kim Overvad, Peter Rudnai, Eugene Gurzau, Kvetoslava Koppova, Kari Hemminki, Cristina Corredera, Victoria Fuentelsaz, Pilar Grasa, Sebastian Navarrete, Fernando Fuertes, Maria D García-Prats, Enrique Sanambrosio, Angeles Panadero, Ana De Juan, Almudena Garcia, Fernando Rivera, Dolores Planelles, Virtudes Soriano, Celia Requena, Katja K Aben, Michelle M van Rossum, Ruben G H M Cremers, Inge M van Oort, Dick-Johan van Spronsen, Jack A Schalken, Wilbert H M Peters, Brian T Helfand, Jenny L Donovan,... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353691 Sun, 25 Sep 2011 04:00:00 +0100 5353691 http://www.medworm.com/index.php?rid=5353689&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FaTg1n0iikDU%2Fng.941 Authors: María Soler Artigas, Daan W Loth, Louise V Wain, Sina A Gharib, Ma'en Obeidat, Wenbo Tang, Guangju Zhai, Jing Hua Zhao, Albert Vernon Smith, Jennifer E Huffman, Eva Albrecht, Catherine M Jackson, David M Evans, Gemma Cadby, Myriam Fornage, Ani Manichaikul, Lorna M Lopez, Toby Johnson, Melinda C Aldrich, Thor Aspelund, Inês Barroso, Harry Campbell, Patricia A Cassano, David J Couper, Gudny Eiriksdottir, Nora Franceschini, Melissa Garcia, Christian Gieger, Gauti Kjartan Gislason, Ivica Grkovic, Christopher J Hammond, Dana B Hancock, Tamara B Harris, Adaikalavan Ramasamy, Susan R Heckbert, Markku Heliövaara, Georg Homuth, Pirro G Hysi, Alan L James, Stipan Jankovic, Bonnie R Joubert, Stefan Karrasch, Norman Klopp, Beate Koch, Stephen B Kritchevsky, Lenore J Launer, Yon... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5353689 Sun, 25 Sep 2011 04:00:00 +0100 5353689 http://www.medworm.com/index.php?rid=5266870&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FSOfmDxEk2SI%2Fng.937 Authors: Ilan Gronau, Melissa J Hubisz, Brad Gulko, Charles G Danko & Adam Siepel Whole-genome sequences provide a rich source of information about human evolution. Here we describe an effort to estimate key evolutionary parameters based on the whole-genome sequences of six individuals from diverse human populations. We used a Bayesian, coalescent-based approach to obtain information about ancestral population sizes, divergence times and migration rates from inferred genealogies at many neutrally evolving loci across the genome. We introduce new methods for accommodating gene flow between populations and integrating over possible phasings of diploid genotypes. We also describe a custom pipeline for genotype inference to mitigate biases from heterogeneous sequencing technologies and cov... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266870 Sun, 18 Sep 2011 04:00:00 +0100 5266870 http://www.medworm.com/index.php?rid=5266860&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F_p3kDMy0GsA%2Fng.943 Authors: We conducted a combined genome-wide association study (GWAS) of 7,481 individuals with bipolar disorder (cases) and 9,250 controls as part of the Psychiatric GWAS Consortium. Our replication study tested 34 SNPs in 4,496 independent cases with bipolar disorder and 42,422 independent controls and found that 18 of 34 SNPs had P < 0.05, with 31 of 34 SNPs having signals with the same direction of effect (P = 3.8 × 10−7). An analysis of all 11,974 bipolar disorder cases and 51,792 controls confirmed genome-wide significant evidence of association for CACNA1C and identified a new intronic variant in ODZ4. We identified a pathway comprised of subunits of calcium channels enriched in bipolar disorder association intervals. Finally, a combined GWAS analysis of schizophrenia... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266860 Sun, 18 Sep 2011 04:00:00 +0100 5266860 http://www.medworm.com/index.php?rid=5266859&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FFlmmwL3M2X0%2Fng.940 We examined the role of common genetic variation in schizophrenia in a genome-wide association study of substantial size: a stage 1 discovery sample of 21,856 individuals of European ancestry and a stage 2 replication sample of 29,839 independent subjects. The combined stage 1 and 2 analysis yielded genome-wide significant associations with schizophrenia for seven loci, five of which are new (1p21.3, 2q32.3, 8p23.2, 8q21.3 and 10q24.32-q24.33) and two of which have been previously implicated (6p21.32-p22.1 and 18q21.2). The strongest new finding (P = 1.6 × 10−11) was with rs1625579 within an intron of a putative primary transcript for MIR137 (microRNA 137), a known regulator of neuronal development. Four other schizophrenia loci achieving genome-wide significance contain predict... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266859 Sun, 18 Sep 2011 04:00:00 +0100 5266859 http://www.medworm.com/index.php?rid=5266865&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FdIngtYzJQU0%2Fng.922 Authors: Louise V Wain, Germaine C Verwoert, Paul F O'Reilly, Gang Shi, Toby Johnson, Andrew D Johnson, Murielle Bochud, Kenneth M Rice, Peter Henneman, Albert V Smith, Georg B Ehret, Najaf Amin, Martin G Larson, Vincent Mooser, David Hadley, Marcus Dörr, Joshua C Bis, Thor Aspelund, Tõnu Esko, A Cecile J W Janssens, Jing Hua Zhao, Simon Heath, Maris Laan, Jingyuan Fu, Giorgio Pistis, Jian'an Luan, Pankaj Arora, Gavin Lucas, Nicola Pirastu, Irene Pichler, Anne U Jackson, Rebecca J Webster, Feng Zhang, John F Peden, Helena Schmidt, Toshiko Tanaka, Harry Campbell, Wilmar Igl, Yuri Milaneschi, Jouke-Jan Hottenga, Veronique Vitart, Daniel I Chasman, Stella Trompet, Jennifer L Bragg-Gresham, Behrooz Z Alizadeh, John C Chambers, Xiuqing Guo, Terho Lehtimäki, Brigitte Kühnel, ... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266865 Sun, 11 Sep 2011 04:00:00 +0100 5266865 http://www.medworm.com/index.php?rid=5266864&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FmJrM6gDhuUg%2Fng.938 Authors: Satoshi Arakawa, Atsushi Takahashi, Kyota Ashikawa, Naoya Hosono, Tomomi Aoi, Miho Yasuda, Yuji Oshima, Shigeo Yoshida, Hiroshi Enaida, Takashi Tsuchihashi, Keisuke Mori, Shigeru Honda, Akira Negi, Akira Arakawa, Kazuaki Kadonosono, Yutaka Kiyohara, Naoyuki Kamatani, Yusuke Nakamura, Tatsuro Ishibashi & Michiaki Kubo Age-related macular degeneration (AMD), the leading cause of irreversible blindness in the world, is a complex disease caused by multiple environmental and genetic risk factors. To identify genetic factors that modify the risk of exudative AMD in the Japanese population, we conducted a genome-wide association study and a replication study using a total of 1,536 individuals with exudative AMD and 18,894 controls. In addition to CFH (rs800292, P = 4.23 × 10&#87... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266864 Sun, 11 Sep 2011 04:00:00 +0100 5266864 http://www.medworm.com/index.php?rid=5266863&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F5j7_VRbBF7I%2Fng.934 This study shows that common genetic variants at 15q21.1 that probably act via FBN1 are associated with STAAD, suggesting a common pathogenesis of aortic disease in Marfan syndrome and STAAD. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266863 Sun, 11 Sep 2011 04:00:00 +0100 5266863 http://www.medworm.com/index.php?rid=5266862&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FnSnYYAATEmg%2Fng.939 Authors: Young Jin Kim, Min Jin Go, Cheng Hu, Chang Bum Hong, Yun Kyoung Kim, Ji Young Lee, Joo-Yeon Hwang, Ji Hee Oh, Dong-Joon Kim, Nam Hee Kim, Soeui Kim, Eun Jung Hong, Ji-Hyun Kim, Haesook Min, Yeonjung Kim, Rong Zhang, Weiping Jia, Yukinori Okada, Atsushi Takahashi, Michiaki Kubo, Toshihiro Tanaka, Naoyuki Kamatani, Koichi Matsuda, Taesung Park, Bermseok Oh, Kuchan Kimm, Daehee Kang, Chol Shin, Nam H Cho, Hyung-Lae Kim, Bok-Ghee Han, Jong-Young Lee & Yoon Shin Cho To identify the genetic bases for nine metabolic traits, we conducted a meta-analysis combining Korean genome-wide association results from the KARE project (n = 8,842) and the HEXA shared control study (n = 3,703). We verified the associations of the loci selected from the discovery meta-analysis in the replication sta... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266862 Sun, 11 Sep 2011 04:00:00 +0100 5266862 http://www.medworm.com/index.php?rid=5266855&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FBuhR2sRDZ7Q%2Fng.920 Authors: Joshua C Bis, Maryam Kavousi, Nora Franceschini, Aaron Isaacs, Gonçalo R Abecasis, Ulf Schminke, Wendy S Post, Albert V Smith, L Adrienne Cupples, Hugh S Markus, Reinhold Schmidt, Jennifer E Huffman, Terho Lehtimäki, Jens Baumert, Thomas Münzel, Susan R Heckbert, Abbas Dehghan, Kari North, Ben Oostra, Steve Bevan, Eva-Maria Stoegerer, Caroline Hayward, Olli Raitakari, Christa Meisinger, Arne Schillert, Serena Sanna, Henry Völzke, Yu-Ching Cheng, Bolli Thorsson, Caroline S Fox, Kenneth Rice, Fernando Rivadeneira, Vijay Nambi, Eran Halperin, Katja E Petrovic, Leena Peltonen, H Erich Wichmann, Renate B Schnabel, Marcus Dörr, Afshin Parsa, Thor Aspelund, Serkalem Demissie, Sekar Kathiresan, Muredach P Reilly, Kent Taylor, Andre Uitterlinden, David J Couper, Ma... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266855 Sun, 11 Sep 2011 04:00:00 +0100 5266855 http://www.medworm.com/index.php?rid=5266869&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FIoWRCuxKBFY%2Fng.915 Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans Nature Genetics 43, 1026 (2011). doi:10.1038/ng.915 Authors: Loïc de Pontual, Evelyn Yao, Patrick Callier, Laurence Faivre, Valérie Drouin, Sandra Cariou, Arie Van Haeringen, David Geneviève, Alice Goldenberg, Myriam Oufadem, Sylvie Manouvrier, Arnold Munnich, Joana Alves Vidigal, Michel Vekemans, Stanislas Lyonnet, Alexandra Henrion-Caude, Andrea Ventura & Jeanne Amiel MicroRNAs (miRNAs) are key regulators of gene expression in animals and plants. Studies in a variety of model organisms show that miRNAs modulate developmental processes. To our knowledge, the only hereditary condition known to be caused by a miRNA is a form of adult-onset non-syndromic deafness, and no ... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266869 Sun, 04 Sep 2011 04:00:00 +0100 5266869 http://www.medworm.com/index.php?rid=5266866&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2F-qUGA68LFyM%2Fng.913 We report the discovery of GATA2 as a new myelodysplastic syndrome (MDS)-acute myeloid leukemia (AML) predisposition gene. We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML in three families and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS family. The resulting alterations reside within the second zinc finger of GATA2, which mediates DNA-binding and protein-protein interactions. We show differential effects of the mutations on the transactivation of target genes, cellular differentiation, apoptosis and global gene expression. Identification of such predisposing genes to familial forms of MDS and AML... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266866 Sun, 04 Sep 2011 04:00:00 +0100 5266866 http://www.medworm.com/index.php?rid=5266858&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FHQb50BMh9Ns%2Fng.936 This study shows previously unidentified levels of genomic rearrangements in colorectal carcinoma that can lead to essential gene fusions and other oncogenic events. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266858 Sun, 04 Sep 2011 04:00:00 +0100 5266858 http://www.medworm.com/index.php?rid=5266854&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FwTX1MD2j5nc%2Fng.924 Authors: Priscila P Zenatti, Daniel Ribeiro, Wenqing Li, Linda Zuurbier, Milene C Silva, Maddalena Paganin, Julia Tritapoe, Julie A Hixon, André B Silveira, Bruno A Cardoso, Leonor M Sarmento, Nádia Correia, Maria L Toribio, Jörg Kobarg, Martin Horstmann, Rob Pieters, Silvia R Brandalise, Adolfo A Ferrando, Jules P Meijerink, Scott K Durum, J Andrés Yunes & João T Barata (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266854 Sun, 04 Sep 2011 04:00:00 +0100 5266854 http://www.medworm.com/index.php?rid=5266853&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FvmPXs_LNEhs%2Fng.923 We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal dominant primary lymphedema associated with a predisposition to acute myeloid leukemia. GATA2 is a transcription factor that plays an essential role in gene regulation during vascular development and hematopoietic differentiation. Our findings indicate that haploinsufficiency of GATA2 underlies primary lymphedema and predisposes to acute myeloid leukemia in this syndrome. (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5266853 Sun, 04 Sep 2011 04:00:00 +0100 5266853 http://www.medworm.com/index.php?rid=5173419&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FdGBz-G1z-yc%2Fng0911-919a Nature Genetics 43, 919 (2011). doi:10.1038/ng0911-919a (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5173419 Sun, 28 Aug 2011 23:00:00 +0100 5173419 http://www.medworm.com/index.php?rid=5173418&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2FmwwJHHXn1Aw%2Fng0911-919b Nature Genetics 43, 919 (2011). doi:10.1038/ng0911-919b Author: Carl A Anderson, Gabrielle Boucher, Charlie W Lees, Andre Franke, Mauro D'Amato, Kent D Taylor, James C Lee, Philippe Goyette, Marcin Imielinski, Anna Latiano, Caroline Lagacé, Regan Scott, Leila Amininejad, Suzannah Bumpstead, Leonard Baidoo, Robert N Baldassano, Murray Barclay, Theodore M Bayless, Stephan Brand, Carsten Büning, Jean-Frédéric Colombel, Lee A Denson, Martine De Vos, Marla Dubinsky, Cathryn Edwards, David Ellinghaus, Rudolf S N Fehrmann, James A B Floyd, Timothy Florin, Denis Franchimont, Lude Franke, Michel Georges, Jürgen Glas, Nicole L Glazer, Stephen L Guthery, Talin Haritunians, Nicholas K Hayward, Jean-Pierre Hugot, Gilles Jobin, Debby Laukens, Ian Lawrance, Marc Lé... Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5173418 Sun, 28 Aug 2011 23:00:00 +0100 5173418 http://www.medworm.com/index.php?rid=5173399&cid=s_33072_50_f&fid=33072&url=http%3A%2F%2Ffeeds.nature.com%2F%7Er%2Fng%2Frss%2Fcurrent%2F%7E3%2Fc_auSLAu3Y0%2Fng.928 Nature Genetics 43, 824 (2011). doi:10.1038/ng.928 Author: Kyle Vogan (Source: Nature Genetics) Nature Genetics journals http://www.medworm.com/rss/comments.php?id=5173399 Sun, 28 Aug 2011 23:00:00 +0100 5173399