A public gene trap resource for mouse functional genomicspp543 - 544 International Gene Trap Consortium: William C Skarnes, Harald von Melchner, Wolfgang Wurst, Geoff Hicks, Alex S Nord, Tony Cox, Stephen G Young, Patricia Ruiz, Phil Soriano, Marc Tessier-Lavigne, Bruce R Conklin, William L Stanford
& Janet Rossant doi:10.1038/ng0604-543 Full text|PDF
(82K)
|Supplementary Information
Inauguration of the African Society of Human Geneticsp544 Charles N Rotimi doi:10.1038/ng0604-544 Full text|PDF
(69K)
A probabilistic view of gene functionpp559 - 564 Andrew G Fraser
& Edward M Marcotte Published online: 27 May 2004|doi:10.1038/ng1370 Abstract|Full text|PDF
(1,077K)
Human genes that limit AIDSpp565 - 574 Stephen J O'Brien
& George W Nelson Published online: 27 May 2004|doi:10.1038/ng1369 Abstract|Full text|PDF
(475K)
Mutations in SEC63 cause autosomal dominant polycystic liver diseasepp575 - 577 Sonia Davila, Laszlo Furu, Ali G Gharavi, Xin Tian, Tamehito Onoe, Qi Qian, Airong Li, Yiqiang Cai, Patrick S Kamath, Bernard F King, Pablo J Azurmendi, Pia Tahvanainen, Helena Kääriäinen, Krister Höckerstedt, Olivier Devuyst, Yves Pirson, Rodolfo S Martin, Richard P Lifton, Esa Tahvanainen, Vicente E Torres
& Stefan Somlo Published online: 09 May 2004|doi:10.1038/ng1357 Abstract|Full text|PDF
(1,855K)
|Supplementary Information
Duplicate genes increase gene expression diversity within and between speciespp577 - 579 Zhenglong Gu, Scott A Rifkin, Kevin P White
& Wen-Hsiung Li Published online: 02 May 2004|doi:10.1038/ng1355 Abstract|Full text|PDF
(82K)
|Supplementary Information
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosispp579 - 581 Orit Topaz, Daniel L Shurman, Reuven Bergman, Margarita Indelman, Paulina Ratajczak, Mordechai Mizrachi, Ziad Khamaysi, Doron Behar, Dan Petronius, Vered Friedman, Israel Zelikovic, Sharon Raimer, Arieh Metzker, Gabriele Richard
& Eli Sprecher Published online: 09 May 2004|doi:10.1038/ng1358 Abstract|Full text|PDF
(587K)
CpG island hypermethylation is maintained in human colorectal cancer cells after RNAi-mediated depletion of DNMT1pp582 - 584 Angela H Ting, Kam-wing Jair, Hiromu Suzuki, Ray-Whay Chiu Yen, Stephen B Baylin
& Kornel E Schuebel Published online: 23 May 2004|doi:10.1038/ng1365 Abstract|Full text|PDF
(185K)
|Supplementary Information
Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington diseasepp585 - 595 Brinda Ravikumar, Coralie Vacher, Zdenek Berger, Janet E Davies, Shouqing Luo, Lourdes G Oroz, Francesco Scaravilli, Douglas F Easton, Rainer Duden, Cahir J O'Kane
& David C Rubinsztein Published online: 16 May 2004|doi:10.1038/ng1362 Abstract|Full text|PDF
(3,410K)
|Supplementary Information
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathypp597 - 601 Joy Irobi, Katrien Van Impe, Pavel Seeman, Albena Jordanova, Ines Dierick, Nathalie Verpoorten, Andrej Michalik, Els De Vriendt, An Jacobs, Veerle Van Gerwen, Krist'l Vennekens, Radim Mazanec, Ivailo Tournev, David Hilton-Jones, Kevin Talbot, Ivo Kremensky, Ludo Van Den Bosch, Wim Robberecht, Joël Vandekerckhove, Christine Van Broeckhoven, Jan Gettemans, Peter De Jonghe
& Vincent Timmerman Published online: 02 May 2004|doi:10.1038/ng1328 Abstract|Full text|PDF
(307K)
|Supplementary Information
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathypp602 - 606 Oleg V Evgrafov, Irena Mersiyanova, Joy Irobi, Ludo Van Den Bosch, Ines Dierick, Conrad L Leung, Olga Schagina, Nathalie Verpoorten, Katrien Van Impe, Valeriy Fedotov, Elena Dadali, Michaela Auer-Grumbach, Christian Windpassinger, Klaus Wagner, Zoran Mitrovic, David Hilton-Jones, Kevin Talbot, Jean-Jacques Martin, Natalia Vasserman, Svetlana Tverskaya, Alexander Polyakov, Ronald K H Liem, Jan Gettemans, Wim Robberecht, Peter De Jonghe
& Vincent Timmerman Published online: 02 May 2004|doi:10.1038/ng1354 Abstract|Full text|PDF
(1,259K)
|Supplementary Information
Long lifespan in worms with long telomeric DNApp607 - 611 Kyu Sang Joeng, Eun Joo Song, Kong-Joo Lee
& Junho Lee Published online: 02 May 2004|doi:10.1038/ng1356 Abstract|Full text|PDF
(1,206K)
Recombination and the Tel1 and Mec1 checkpoints differentially effect genome rearrangements driven by telomere dysfunction in yeastpp612 - 617 Vincent Pennaneach
& Richard D Kolodner Published online: 09 May 2004|doi:10.1038/ng1359 Abstract|Full text|PDF
(159K)
|Supplementary Information
TIN2 is a tankyrase 1 PARP modulator in the TRF1 telomere length control complexpp618 - 623 Jeffrey Zheng-Sheng Ye
& Titia de Lange Published online: 09 May 2004|doi:10.1038/ng1360 Abstract|Full text|PDF
(2,755K)
Acute myeloid leukemia induced by graded reduction of a lineage-specific transcription factor, PU.1pp624 - 630 Frank Rosenbauer, Katharina Wagner, Jeffery L Kutok, Hiromi Iwasaki, Michelle M Le Beau, Yutaka Okuno, Koichi Akashi, Steven Fiering
& Daniel G Tenen Published online: 16 May 2004|doi:10.1038/ng1361 Abstract|Full text|PDF
(545K)
|Supplementary Information
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-Bpp631 - 635 Ian D Krantz, Jennifer McCallum, Cheryl DeScipio, Maninder Kaur, Lynette A Gillis, Dinah Yaeger, Lori Jukofsky, Nora Wasserman, Armand Bottani, Colleen A Morris, Malgorzata J M Nowaczyk, Helga Toriello, Michael J Bamshad, John C Carey, Eric Rappaport, Shimako Kawauchi, Arthur D Lander, Anne L Calof, Hui-hua Li, Marcella Devoto
& Laird G Jackson Published online: 16 May 2004|doi:10.1038/ng1364 Abstract|Full text|PDF
(1,521K)
|Supplementary Information
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndromepp636 - 641 Emma T Tonkin, Tzu-Jou Wang, Steven Lisgo, Michael J Bamshad
& Tom Strachan Published online: 16 May 2004|doi:10.1038/ng1363 Abstract|Full text|PDF
(798K)
|Supplementary Information
The mouse X chromosome is enriched for sex-biased genes not subject to selection by meiotic sex chromosome inactivationpp642 - 646 Pavel P Khil, Natalya A Smirnova, Peter J Romanienko
& R Daniel Camerini-Otero Published online: 23 May 2004|doi:10.1038/ng1368 Abstract|Full text|PDF
(741K)
|Supplementary Information
Plzf is required in adult male germ cells for stem cell self-renewalpp647 - 652 F William Buaas, Andrew L Kirsh, Manju Sharma, Derek J McLean, Jamie L Morris, Michael D Griswold, Dirk G de Rooij
& Robert E Braun Published online: 23 May 2004|doi:10.1038/ng1366 Abstract|Full text|PDF
(2,013K)
Essential role of Plzf in maintenance of spermatogonial stem cellspp653 - 659 José A Costoya, Robin M Hobbs, Maria Barna, Giorgio Cattoretti, Katia Manova, Meena Sukhwani, Kyle E Orwig, Debra J Wolgemuth
& Pier Paolo Pandolfi Published online: 23 May 2004|doi:10.1038/ng1367 Abstract|Full text|PDF
(1,650K)
|Supplementary Information See also:News and Views by Kotaja & Sassone-Corsi
Corrigendum: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2Ap660 S Züchner, I V Mersiyanova, M Muglia, N Bissar-Tadmouri, J Rochelle, E L Dadali, M Zappia, E Nelis, A Patitucci, J Senderek, Y Parman, O Evgrafov, P De Jonghe, Y Takahashi, S Tsuji, M A Pericak-Vance, A Quattrone, E Battologlu, A V Polyakov, V Timmerman, J M Schröder
& J M Vance doi:10.1038/ng0604-660 Full text|PDF
(37K)