The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperonepp1309 - 1311 Anna-Kaisa Anttonen, Ibrahim Mahjneh, Riikka H Hämäläinen, Clotilde Lagier-Tourenne, Outi Kopra, Laura Waris, Mikko Anttonen, Tarja Joensuu, Hannu Kalimo, Anders Paetau, Lisbeth Tranebjaerg, Denys Chaigne, Michel Koenig, Orvar Eeg-Olofsson, Bjarne Udd, Mirja Somer, Hannu Somer
& Anna-Elina Lehesjoki Published online: 13 November 2005|doi:10.1038/ng1677 Abstract|Full text|PDF
(193K)
|Supplementary Information See also:News and Views by Zoghbi
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathypp1312 - 1314 Jan Senderek, Michael Krieger, Claudia Stendel, Carsten Bergmann, Markus Moser, Nico Breitbach-Faller, Sabine Rudnik-Schöneborn, Astrid Blaschek, Nicole I Wolf, Inga Harting, Kathryn North, Janine Smith, Francesco Muntoni, Martin Brockington, Susana Quijano-Roy, Francis Renault, Ralf Herrmann, Linda M Hendershot, J Michael Schröder, Hanns Lochmüller, Haluk Topaloglu, Thomas Voit, Joachim Weis, Friedrich Ebinger
& Klaus Zerres Published online: 13 November 2005|doi:10.1038/ng1678 Abstract|Full text|PDF
(239K)
|Supplementary Information See also:News and Views by Zoghbi
Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFRpp1315 - 1316 Daphne W Bell, Ira Gore, Ross A Okimoto, Nadia Godin-Heymann, Raffaella Sordella, Roseann Mulloy, Sreenath V Sharma, Brian W Brannigan, Gayatry Mohapatra, Jeff Settleman
& Daniel A Haber Published online: 30 October 2005|doi:10.1038/ng1671 Abstract|Full text|PDF
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Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variantpp1317 - 1319 Torkel Vang, Mauro Congia, Maria Doloretta Macis, Lucia Musumeci, Valeria Orrú, Patrizia Zavattari, Konstantina Nika, Lutz Tautz, Kjetil Taskén, Francesco Cucca, Tomas Mustelin
& Nunzio Bottini Published online: 06 November 2005|doi:10.1038/ng1673 Abstract|Full text|PDF
(175K)
|Supplementary Information See also:News and Views by Gregersen
An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data setspp1320 - 1322 Eleftheria Zeggini, William Rayner, Andrew P Morris, Andrew T Hattersley, Mark Walker, Graham A Hitman, Panos Deloukas, Lon R Cardon
& Mark I McCarthy Published online: 30 October 2005|doi:10.1038/ng1670 Abstract|Full text|PDF
(117K)
|Supplementary Information See also:News and Views by Kruglyak
A genome-wide RNA interference screen in Drosophila melanogaster cells for new components of the Hh signaling pathwaypp1323 - 1332 Kent Nybakken, Steven A Vokes, Ting-Yi Lin, Andrew P McMahon
& Norbert Perrimon Published online: 20 November 2005|doi:10.1038/ng1682 Abstract|Full text|PDF
(807K)
|Supplementary Information
Quantitative trait loci mapped to single-nucleotide resolution in yeastpp1333 - 1340 Adam M Deutschbauer
& Ronald W Davis Published online: 06 November 2005|doi:10.1038/ng1674 Abstract|Full text|PDF
(253K)
|Supplementary Information
Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defectpp1341 - 1344 Alienke J Monsuur, Paul I W de Bakker, Behrooz Z Alizadeh, Alexandra Zhernakova, Marianna R Bevova, Eric Strengman, Lude Franke, Ruben van't Slot, Martine J van Belzen, Ineke C M Lavrijsen, Begoña Diosdado, Mark J Daly, Chris J J Mulder, M Luisa Mearin, Jos W R Meijer, Gerrit A Meijer, Erica van Oort, Martin C Wapenaar, Bobby P C Koeleman
& Cisca Wijmenga Published online: 13 November 2005|doi:10.1038/ng1680 Abstract|Full text|PDF
(168K)
|Supplementary Information
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)pp1345 - 1350 Martin Zenker, Julia Mayerle, Markus M Lerch, Andreas Tagariello, Klaus Zerres, Peter R Durie, Matthias Beier, Georg Hülskamp, Celina Guzman, Helga Rehder, Frits A Beemer, Ben Hamel, Philippe Vanlieferinghen, Ruth Gershoni-Baruch, Marta W Vieira, Miroslav Dumic, Ron Auslender, Vera L Gil-da-Silva-Lopes, Simone Steinlicht, Manfred Rauh, Stavit A Shalev, Christian Thiel, Andreas Winterpacht, Yong Tae Kwon, Alexander Varshavsky
& André Reis Published online: 20 November 2005|doi:10.1038/ng1681 Abstract|Full text|PDF
(485K)
|Supplementary Information
SMC1-deficient female mice provide evidence that cohesins are a missing link in age-related nondisjunctionpp1351 - 1355 Craig A Hodges, Ekaterina Revenkova, Rolf Jessberger, Terry J Hassold
& Patricia A Hunt Published online: 30 October 2005|doi:10.1038/ng1672 Abstract|Full text|PDF
(244K)
|Supplementary Information See also:News and Views by Bickel
DICER-LIKE 4 is required for RNA interference and produces the 21-nucleotide small interfering RNA component of the plant cell-to-cell silencing signalpp1356 - 1360 Patrice Dunoyer, Christophe Himber
& Olivier Voinnet Published online: 06 November 2005|doi:10.1038/ng1675 Abstract|Full text|PDF
(650K)
|Supplementary Information
Sex-specific role of Drosophila melanogaster HP1 in regulating chromatin structure and gene transcriptionpp1361 - 1366 Lu-Ping Liu, Jian-Quan Ni, Yan-Dong Shi, Edward J Oakeley
& Fang-Lin Sun Published online: 30 October 2005|doi:10.1038/ng1662 Abstract|Full text|PDF
(399K)
|Supplementary Information
Robust signals of coevolution of interacting residues in mammalian proteomes identified by phylogeny-aided structural analysispp1367 - 1371 Sun Shim Choi, Weimin Li
& Bruce T Lahn Published online: 13 November 2005|doi:10.1038/ng1685 Abstract|Full text|PDF
(158K)
|Supplementary Information
Adaptive evolution of bacterial metabolic networks by horizontal gene transferpp1372 - 1375 Csaba Pál, Balázs Papp
& Martin J Lercher Published online: 20 November 2005|doi:10.1038/ng1686 Abstract|Full text|PDF
(149K)
|Supplementary Information
Genomic buffering mitigates the effects of deleterious mutations in bacteriapp1376 - 1379 Sophie Maisnier-Patin, John R Roth, Åsa Fredriksson, Thomas Nyström, Otto G Berg
& Dan I Andersson Published online: 06 November 2005|doi:10.1038/ng1676 Abstract|Full text|PDF
(160K)
|Supplementary Information
Erratum: Integrating genotypic and expression data in a segregating mouse population to identify 5-lipoxygenase as a susceptibility gene for obesity and bone traitsp1381 M Mehrabian, H Allayee, J Stockton, P Y Lum, T A Drake, L W Castellani, M Suh, C Armour, S Edwards, J Lamb, A J Lusis
& E E Schadt doi:10.1038/ng1205-1381a Full text|PDF
(174K)
Corrigendum: Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebratesp1381 A J Ross, H May-Simera, E R Eichers, M Kai, J Hill, D J Jagger, C C Leitch, J P Chapple, P M Munro, S Fisher, P L Tan, H M Phillips, M R Leroux, D J Henderson, J N Murdoch, A J Copp, M-M Eliot, J R Lupski, D T Kemp, H Dollfus, M Tada, N Katsanis, A Forge
& P L Beales doi:10.1038/ng1205-1381b Full text|PDF
(167K)
-deficient female mice provide evidence that cohesins are a missing link in age-related nondisjunction
