Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger proteinpp749 - 751 Ramon Y Birnbaum, Alex Zvulunov, Dafna Hallel-Halevy, Emanuella Cagnano, Gal Finer, Rivka Ofir, Dan Geiger, Eldad Silberstein, Yael Feferman
& Ohad S Birk Published online: 04 June 2006|doi:10.1038/ng1813 Abstract|Full text|PDF
(254K)
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PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain ironpp752 - 754 Neil V Morgan, Shawn K Westaway, Jenny E V Morton, Allison Gregory, Paul Gissen, Scott Sonek, Hakan Cangul, Jason Coryell, Natalie Canham, Nardo Nardocci, Giovanna Zorzi, Shanaz Pasha, Diana Rodriguez, Isabelle Desguerre, Amar Mubaidin, Enrico Bertini, Richard C Trembath, Alessandro Simonati, Carolyn Schanen, Colin A Johnson, Barbara Levinson, C Geoffrey Woods, Beth Wilmot, Patricia Kramer, Jane Gitschier, Eamonn R Maher
& Susan J Hayflick Published online: 18 June 2006|doi:10.1038/ng1826 Abstract|Full text|PDF
(132K)
|Supplementary Information
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)pp755 - 757 Eranga N Vithana, Patricio Morgan, Periasamy Sundaresan, Neil D Ebenezer, Donald T H Tan, Moin D Mohamed, Seema Anand, Khin O Khine, Divya Venkataraman, Victor H K Yong, Manuel Salto-Tellez, Anandalakshmi Venkatraman, Ke Guo, Boomiraj Hemadevi, Muthiah Srinivasan, Venkatesh Prajna, Myint Khine, Joseph R Casey, Chris F Inglehearn
& Tin Aung Published online: 11 June 2006|doi:10.1038/ng1824 Abstract|Full text|PDF
(165K)
|Supplementary Information
Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8pp758 - 769 Melinda L Moseley, Tao Zu, Yoshio Ikeda, Wangcai Gao, Anne K Mosemiller, Randy S Daughters, Gang Chen, Marcy R Weatherspoon, H Brent Clark, Timothy J Ebner, John W Day
& Laura P W Ranum Published online: 25 June 2006|doi:10.1038/ng1827 Abstract|Full text|PDF
(519K)
|Supplementary Information See also:News and Views by Paulson
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathypp770 - 778 Sedigheh Delmaghani, Francisco J del Castillo, Vincent Michel, Michel Leibovici, Asadollah Aghaie, Uri Ron, Lut Van Laer, Nir Ben-Tal, Guy Van Camp, Dominique Weil, Francina Langa, Mark Lathrop, Paul Avan
& Christine Petit Published online: 25 June 2006|doi:10.1038/ng1829 Abstract|Full text|PDF
(638K)
|Supplementary Information
The multidrug-resistant human pathogen Clostridium difficile has a highly mobile, mosaic genomepp779 - 786 Mohammed Sebaihia, Brendan W Wren, Peter Mullany, Neil F Fairweather, Nigel Minton, Richard Stabler, Nicholas R Thomson, Adam P Roberts, Ana M Cerdeño-Tárraga, Hongmei Wang, Matthew TG Holden, Anne Wright, Carol Churcher, Michael A Quail, Stephen Baker, Nathalie Bason, Karen Brooks, Tracey Chillingworth, Ann Cronin, Paul Davis, Linda Dowd, Audrey Fraser, Theresa Feltwell, Zahra Hance, Simon Holroyd, Kay Jagels, Sharon Moule, Karen Mungall, Claire Price, Ester Rabbinowitsch, Sarah Sharp, Mark Simmonds, Kim Stevens, Louise Unwin, Sally Whithead, Bruno Dupuy, Gordon Dougan, Bart Barrell
& Julian Parkhill Published online: 25 June 2006|doi:10.1038/ng1830 Abstract|Full text|PDF
(617K)
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CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancerpp787 - 793 Daniel J Weisenberger, Kimberly D Siegmund, Mihaela Campan, Joanne Young, Tiffany I Long, Mark A Faasse, Gyeong Hoon Kang, Martin Widschwendter, Deborah Weener, Daniel Buchanan, Hoey Koh, Lisa Simms, Melissa Barker, Barbara Leggett, Joan Levine, Myungjin Kim, Amy J French, Stephen N Thibodeau, Jeremy Jass, Robert Haile
& Peter W Laird Published online: 25 June 2006|doi:10.1038/ng1834 Abstract|Full text|PDF
(581K)
|Supplementary Information See also:News and Views by Schuebel et al.
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasiapp794 - 800 Anelia Horvath, Sosipatros Boikos, Christoforos Giatzakis, Audrey Robinson-White, Lionel Groussin, Kurt J Griffin, Erica Stein, Elizabeth Levine, Georgia Delimpasi, Hui Pin Hsiao, Meg Keil, Sarah Heyerdahl, Ludmila Matyakhina, Rossella Libè, Amato Fratticci, Lawrence S Kirschner, Kevin Cramer, Rolf C Gaillard, Xavier Bertagna, J Aidan Carney, Jérôme Bertherat, Ioannis Bossis
& Constantine A Stratakis Published online: 11 June 2006|doi:10.1038/ng1809 Abstract|Full text|PDF
(507K)
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Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle diseasepp801 - 806 Mark I Rees, Kirsten Harvey, Brian R Pearce, Seo-Kyung Chung, Ian C Duguid, Philip Thomas, Sarah Beatty, Gail E Graham, Linlea Armstrong, Rita Shiang, Kim J Abbott, Sameer M Zuberi, John B P Stephenson, Michael J Owen, Marina A J Tijssen, Arn M J M van den Maagdenberg, Trevor G Smart, Stéphane Supplisson
& Robert J Harvey Published online: 04 June 2006|doi:10.1038/ng1814 Abstract|Full text|PDF
(940K)
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An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesispp807 - 812 Luciana M Hollanda, Carmen S P Lima, Anderson F Cunha, Dulcinéia M Albuquerque, José Vassallo, Margareth C Ozelo, Paulo P Joazeiro, Sara T O Saad
& Fernando F Costa Published online: 18 June 2006|doi:10.1038/ng1825 Abstract|Full text|PDF
(507K)
|Supplementary Information See also:News and Views by Mundschau & Crispino
A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheeppp813 - 818 Alex Clop, Fabienne Marcq, Haruko Takeda, Dimitri Pirottin, Xavier Tordoir, Bernard Bibé, Jacques Bouix, Florian Caiment, Jean-Michel Elsen, Francis Eychenne, Catherine Larzul, Elisabeth Laville, Françoise Meish, Dragan Milenkovic, James Tobin, Carole Charlier
& Michel Georges Published online: 04 June 2006|doi:10.1038/ng1810 Abstract|Full text|PDF
(372K)
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Pleiotropic fitness effects of the Tre1-Gr5a region in Drosophila melanogasterpp824 - 829 Stephanie M Rollmann, Michael M Magwire, Theodore J Morgan, Ergi D Özsoy, Akihiko Yamamoto, Trudy F C Mackay
& Robert R H Anholt Published online: 18 June 2006|doi:10.1038/ng1823 Abstract|Full text|PDF
(210K)
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A genetic signature of interspecies variations in gene expressionpp830 - 834 Itay Tirosh, Adina Weinberger, Miri Carmi
& Naama Barkai Published online: 18 June 2006|doi:10.1038/ng1819 Abstract|Full text|PDF
(1,172K)
|Supplementary Information
Epigenetic characterization of the early embryo with a chromatin immunoprecipitation protocol applicable to small cell populationspp835 - 841 Laura P O'Neill, Matthew D VerMilyea
& Bryan M Turner Published online: 11 June 2006|doi:10.1038/ng1820 Abstract|Full text|PDF
(330K)
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The genetics of plant metabolismpp842 - 849 Joost J B Keurentjes, Jingyuan Fu, C H Ric de Vos, Arjen Lommen, Robert D Hall, Raoul J Bino, Linus H W van der Plas, Ritsert C Jansen, Dick Vreugdenhil
& Maarten Koornneef Published online: 04 June 2006|doi:10.1038/ng1815 Abstract|Full text|PDF
(260K)
|Supplementary Information See also:News and Views by Baxter & Borevitz
Corrigendum: Genome-wide profiling of PRC1 and PRC2 Polycomb chromatin binding in Drosophila melanogasterp850 Bas Tolhuis, Inhua Muijrers, Elzo de Wit, Hans Teunissen, Wendy Talhout, Bas van Steensel
& Maarten van Lohuizen doi:10.1038/ng0706-850a Full text|PDF
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