Advance online publication
The latest research papers, published online ahead of print. These online versions are definitive and may be cited using the digital object identifier (DOI).
About advance online publicationBrief Communication
The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer
Mark M Pomerantz, Nasim Ahmadiyeh, Li Jia, Paula Herman, Michael P Verzi, Harshavardhan Doddapaneni, Christine A Beckwith, Jennifer A Chan, Adam Hills, Matt Davis, Keluo Yao, Sarah M Kehoe, Heinz-Josef Lenz, Christopher A Haiman, Chunli Yan, Brian E Henderson, Baruch Frenkel, Jordi Barretina, Adam Bass, Josep Tabernero, José Baselga, Meredith M Regan, J Robert Manak, Ramesh Shivdasani, Gerhard A Coetzee & Matthew L Freedman
Published online: 28 June 2009 | doi:10.1038/ng.403
Matthew Freedman and colleagues show that a region on 8q24 associated with colorectal cancer risk functions as an enhancer and undergoes long-range interactions with MYC. They further show that alleles at the risk-associated SNP bind differentially to TCF7L2, a transcription factor in the Wnt pathway.
Abstract - | Full Text - The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer | PDF (212 KB) - The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer | Supplementary information
Article
The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling
Sari Tuupanen, Mikko Turunen, Rainer Lehtonen, Outi Hallikas, Sakari Vanharanta, Teemu Kivioja, Mikael Björklund, Gonghong Wei, Jian Yan, Iina Niittymäki, Jukka-Pekka Mecklin, Heikki Järvinen, Ari Ristimäki, Mariachiara Di-Bernardo, Phil East, Luis Carvajal-Carmona, Richard S Houlston, Ian Tomlinson, Kimmo Palin, Esko Ukkonen, Auli Karhu, Jussi Taipale & Lauri A Aaltonen
Published online: 28 June 2009 | doi:10.1038/ng.406
Lauri Aaltonen and colleagues show that a region on 8q24 associated with colorectal cancer risk functions as an enhancer and that the risk allele at this locus binds with higher affinity to the Wnt-regulated transcription factor TCF4 (also called TCF7L2), conferring enhanced responsiveness to Wnt signaling.
Abstract - | Full Text - The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling | PDF (679 KB) - The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling | Supplementary information
Letters
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II
Klaus Schwarz, Achille Iolascon, Fatima Verissimo, Nikolaus S Trede, Wyatt Horsley, Wen Chen, Barry H Paw, Karl-Peter Hopfner, Karlheinz Holzmann, Roberta Russo, Maria Rosaria Esposito, Daniela Spano, Luigia De Falco, Katja Heinrich, Brigitte Joggerst, Markus T Rojewski, Silverio Perrotta, Jonas Denecke, Ulrich Pannicke, Jean Delaunay, Rainer Pepperkok & Hermann Heimpel
Published online: 28 June 2009 | doi:10.1038/ng.405
Klaus Schwarz and colleagues show that mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoetic anemia type II, a rare disease marked by defective cytokinesis in erythroblasts and membrane abnormalities in nucleated and peripheral red blood cells.
First Paragraph - | Full Text - Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II | PDF (428 KB) - Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II | Supplementary information
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density
Gudmar Thorleifsson, Hilma Holm, Vidar Edvardsson, G Bragi Walters, Unnur Styrkarsdottir, Daniel F Gudbjartsson, Patrick Sulem, Bjarni V Halldorsson, Femmie de Vegt, Frank C H d'Ancona, Martin den Heijer, Leifur Franzson, Claus Christiansen, Peter Alexandersen, Thorunn Rafnar, Kristleifur Kristjansson, Gunnar Sigurdsson, Lambertus A Kiemeney, Magnus Bodvarsson, Olafur S Indridason, Runolfur Palsson, Augustine Kong, Unnur Thorsteinsdottir & Kari Stefansson
Published online: 28 June 2009 | doi:10.1038/ng.404
Gudmar Thorleifsson and colleagues report a genome-wide association study for kidney stones. They report common variants in CLDN14 associated with increased risk of kidney stone disease.
First Paragraph - | Full Text - Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density | PDF (323 KB) - Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density | Supplementary information
Until print versions of AOP papers are published, they should be cited in the style "Author(s) Nature Genetics advance online publication, day month year (doi:10.1038/ngXXXXX)". Once the print version (identical to the AOP) is published, it should be cited as follows: "Author(s) Nature Genetics volume, page (year); advance online publication, (doi:10.1038/ngXXXXX)".
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