PTPN22 and invasive bacterial diseasepp499 - 500 Stephen J Chapman, Chiea C Khor, Fredrik O Vannberg, Nicholas A Maskell, Christopher WH Davies, Emma L Hedley, Shelley Segal, Catrin E Moore, Kyle Knox, Nicholas P Day, Stephen H Gillespie, Derrick W Crook, Robert JO Davies & Adrian VS Hill doi:10.1038/ng0506-499 Full text|PDF
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GenePattern 2.0pp500 - 501 Michael Reich, Ted Liefeld, Joshua Gould, Jim Lerner, Pablo Tamayo & Jill P Mesirov doi:10.1038/ng0506-500 Full text|PDF
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High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson diseasepp515 - 517 Andreas Bender, Kim J Krishnan, Christopher M Morris, Geoffrey A Taylor, Amy K Reeve, Robert H Perry, Evelyn Jaros, Joshua S Hersheson, Joanne Betts, Thomas Klopstock, Robert W Taylor & Douglass M Turnbull Published online: 09 April 2006|doi:10.1038/ng1769 Abstract|Full text|PDF
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Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neuronspp518 - 520 Yevgenya Kraytsberg, Elena Kudryavtseva, Ann C McKee, Changiz Geula, Neil W Kowall & Konstantin Khrapko Published online: 09 April 2006|doi:10.1038/ng1778 Abstract|Full text|PDF
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BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locuspp521 - 524 Corinne Stoetzel, Virginie Laurier, Erica E Davis, Jean Muller, Suzanne Rix, José L Badano, Carmen C Leitch, Nabiha Salem, Eliane Chouery, Sandra Corbani, Nadine Jalk, Serge Vicaire, Pierre Sarda, Christian Hamel, Didier Lacombe, Muriel Holder, Sylvie Odent, Susan Holder, Alice S Brooks, Nursel H Elcioglu, Eduardo D Silva, Béatrice Rossillion, Sabine Sigaudy, Thomy J L de Ravel, Richard Alan Lewis, Bruno Leheup, Alain Verloes, Patrizia Amati-Bonneau, André Mégarbané, Olivier Poch, Dominique Bonneau, Philip L Beales, Jean-Louis Mandel, Nicholas Katsanis & Hélène Dollfus Published online: 02 April 2006|doi:10.1038/ng1771 Abstract|Full text|PDF
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A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressivapp525 - 527 Eileen M Shore, Meiqi Xu, George J Feldman, David A Fenstermacher, Tae-Joon Cho, In Ho Choi, J Michael Connor, Patricia Delai, David L Glaser, Martine LeMerrer, Rolf Morhart, John G Rogers, Roger Smith, James T Triffitt, J Andoni Urtizberea, Michael Zasloff, Matthew A Brown & Frederick S Kaplan Published online: 23 April 2006|doi:10.1038/ng1783 Abstract|Full text|PDF
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|Supplementary Information
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutationspp528 - 530 Antonio Musio, Angelo Selicorni, Maria Luisa Focarelli, Cristina Gervasini, Donatella Milani, Silvia Russo, Paolo Vezzoni & Lidia Larizza Published online: 09 April 2006|doi:10.1038/ng1779 Abstract|Full text|PDF
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Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expressionpp531 - 539 Jodie L Babitt, Franklin W Huang, Diedra M Wrighting, Yin Xia, Yisrael Sidis, Tarek A Samad, Jason A Campagna, Raymond T Chung, Alan L Schneyer, Clifford J Woolf, Nancy C Andrews & Herbert Y Lin Published online: 09 April 2006|doi:10.1038/ng1777 Abstract|Full text|PDF
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Epigenetic remodeling in colorectal cancer results in coordinate gene suppression across an entire chromosome bandpp540 - 549 Jordi Frigola, Jenny Song, Clare Stirzaker, Rebecca A Hinshelwood, Miguel A Peinado & Susan J Clark Published online: 23 April 2006|doi:10.1038/ng1781 Abstract|Full text|PDF
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A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosuspp550 - 555 Robert R Graham, Sergey V Kozyrev, Emily C Baechler, M V Prasad Linga Reddy, Robert M Plenge, Jason W Bauer, Ward A Ortmann, Thearith Koeuth, Ma Francisca González Escribano, the Argentine and Spanish Collaborative Groups, Bernardo Pons-Estel, Michelle Petri, Mark Daly, Peter K Gregersen, Javier Martín, David Altshuler, Timothy W Behrens & Marta E Alarcón-Riquelme Published online: 16 April 2006|doi:10.1038/ng1782 Abstract|Full text|PDF
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Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studiespp556 - 560 Susan Service, Joseph DeYoung, Maria Karayiorgou, J Louw Roos, Herman Pretorious, Gabriel Bedoya, Jorge Ospina, Andres Ruiz-Linares, António Macedo, Joana Almeida Palha, Peter Heutink, Yurii Aulchenko, Ben Oostra, Cornelia van Duijn, Marjo-Riitta Jarvelin, Teppo Varilo, Lynette Peddle, Proton Rahman, Giovanna Piras, Maria Monne, Sarah Murray, Luana Galver, Leena Peltonen, Chiara Sabatti, Andrew Collins & Nelson Freimer Published online: 02 April 2006|doi:10.1038/ng1770 Abstract|Full text|PDF
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Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndromepp561 - 565 Reha M Toydemir, Ann Rutherford, Frank G Whitby, Lynn B Jorde, John C Carey & Michael J Bamshad Published online: 16 April 2006|doi:10.1038/ng1775 Abstract|Full text|PDF
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A truncating mutation of HDAC2 in human cancers confers resistance to histone deacetylase inhibitionpp566 - 569 Santiago Ropero, Mario F Fraga, Esteban Ballestar, Richard Hamelin, Hiroyuki Yamamoto, Manuel Boix-Chornet, Rosalia Caballero, Miguel Alaminos, Fernando Setien, Maria F Paz, Michel Herranz, Jose Palacios, Diego Arango, Torben F Orntoft, Lauri A Aaltonen, Simó Schwartz Jr & Manel Esteller Published online: 16 April 2006|doi:10.1038/ng1773 Abstract|Full text|PDF
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MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletionpp570 - 575 Antonella Spinazzola, Carlo Viscomi, Erika Fernandez-Vizarra, Franco Carrara, Pio D'Adamo, Sarah Calvo, René Massimiliano Marsano, Claudia Donnini, Hans Weiher, Pietro Strisciuglio, Rossella Parini, Emmanuelle Sarzi, Alicia Chan, Salvatore DiMauro, Agnes Rötig, Paolo Gasparini, Iliana Ferrero, Vamsi K Mootha, Valeria Tiranti & Massimo Zeviani Published online: 02 April 2006|doi:10.1038/ng1765 Abstract|Full text|PDF
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Systematic identification of human mitochondrial disease genes through integrative genomicspp576 - 582 Sarah Calvo, Mohit Jain, Xiaohui Xie, Sunil A Sheth, Betty Chang, Olga A Goldberger, Antonella Spinazzola, Massimo Zeviani, Steven A Carr & Vamsi K Mootha Published online: 02 April 2006|doi:10.1038/ng1776 Abstract|Full text|PDF
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Total insulin and IGF-I resistance in pancreatic cells causes overt diabetespp583 - 588 Kohjiro Ueki, Terumasa Okada, Jiang Hu, Chong Wee Liew, Anke Assmann, Gabriella M Dahlgren, Jennifer L Peters, Jonathan G Shackman, Min Zhang, Isabella Artner, Leslie S Satin, Roland Stein, Martin Holzenberger, Robert T Kennedy, C Ronald Kahn & Rohit N Kulkarni Published online: 23 April 2006|doi:10.1038/ng1787 Abstract|Full text|PDF
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Ablation of PDK1 in pancreatic cells induces diabetes as a result of loss of cell masspp589 - 593 Naoko Hashimoto, Yoshiaki Kido, Tohru Uchida, Shun-ichiro Asahara, Yutaka Shigeyama, Tomokazu Matsuda, Akihiko Takeda, Daisuke Tsuchihashi, Akihiko Nishizawa, Wataru Ogawa, Yoshito Fujimoto, Hitoshi Okamura, Karen C Arden, Pedro L Herrera, Tetsuo Noda & Masato Kasuga Published online: 23 April 2006|doi:10.1038/ng1774 Abstract|Full text|PDF
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A distant upstream enhancer at the maize domestication gene tb1 has pleiotropic effects on plant and inflorescent architecturepp594 - 597 Richard M Clark, Tina Nussbaum Wagler, Pablo Quijada & John Doebley Published online: 23 April 2006|doi:10.1038/ng1784 Abstract|Full text|PDF
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Corrigendum: Germline KRAS mutations cause Noonan syndromep598 Suzanne Schubbert, Martin Zenker, Sara L Rowe, Silke Böll, Cornelia Klein, Gideon Bollag, Ineke van der Burgt, Luciana Musante, Vera Kalscheuer, Lars-Erik Wehner, Hoa Nguyen, Brian West, Kam Y J Zhang, Erik Sistermans, Anita Rauch, Charlotte M Niemeyer, Kevin Shannon & Christian P Kratz doi:10.1038/ng0506-598 Full text|PDF
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