Human Molecular Genetics

ARTICLES:

Soji Kakiuchi, Yataro Daigo, Nobuhisa Ishikawa, Chiyuki Furukawa, Tatsuhiko Tsunoda, Seiji Yano, Kazuhiko Nakagawa, Takashi Tsuruo, Nobuoki Kohno, Masahiro Fukuoka, Saburo Sone, and Yusuke Nakamura

Prediction of sensitivity of advanced non-small cell lung cancers to gefitinib (Iressa, ZD1839)
Human Molecular Genetics Advance Access published on October 20, 2004
Hum. Mol. Genet. 2004 13: 3029-3043; doi:10.1093/hmg/ddh331 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Fabrizio de Mattia, Paul J.M. Savelkoul, Daniel G. Bichet, Erik-Jan Kamsteeg, Irene B.M. Konings, Nannette Marr, Marie-Françoise Arthus, Michèle Lonergan, Carel H. van Os, Peter van der Sluijs, Gary Robertson, and Peter M.T. Deen

A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L
Human Molecular Genetics Advance Access published on October 27, 2004
Hum. Mol. Genet. 2004 13: 3045-3056; doi:10.1093/hmg/ddh339 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

I.V. Kovtun, A.R. Thornhill, and C.T. McMurray

Somatic deletion events occur during early embryonic development and modify the extent of CAG expansion in subsequent generations
Human Molecular Genetics Advance Access published on October 20, 2004
Hum. Mol. Genet. 2004 13: 3057-3068; doi:10.1093/hmg/ddh325 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Irma S. Lantinga-van Leeuwen, Johannes G. Dauwerse, Hans J. Baelde, Wouter N. Leonhard, Annemieke van de Wal, Christopher J. Ward, Sjef Verbeek, Marco C. DeRuiter, Martijn H. Breuning, Emile de Heer, and Dorien J.M. Peters

Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease
Human Molecular Genetics Advance Access published on October 20, 2004
Hum. Mol. Genet. 2004 13: 3069-3077; doi:10.1093/hmg/ddh336 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hong Jiang, Ami Mankodi, Maurice S. Swanson, Richard T. Moxley, and Charles A. Thornton

Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons
Human Molecular Genetics Advance Access published on October 20, 2004
Hum. Mol. Genet. 2004 13: 3079-3088; doi:10.1093/hmg/ddh327 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Naheed A. Rana, Neil D. Ebenezer, Andrew R. Webster, Andres R. Linares, David B. Whitehouse, Sue Povey, and Alison J. Hardcastle

Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31
Human Molecular Genetics Advance Access published on October 27, 2004
Hum. Mol. Genet. 2004 13: 3089-3102; doi:10.1093/hmg/ddh337 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Emmanuelle Bouzigon, Marie-Hélène Dizier, Christine Krähenbühl, Arnaud Lemainque, Isabella Annesi-Maesano, Christine Betard, Jean Bousquet, Denis Charpin, Frédéric Gormand, Michel Guilloud-Bataille, Jocelyne Just, Nicole Le Moual, Jean Maccario, Régis Matran, Françoise Neukirch, Marie-Pierre Oryszczyn, Evelyne Paty, Isabelle Pin, Myriam Rosenberg-Bourgin, Daniel Vervloet, Francine Kauffmann, Mark Lathrop, and Florence Demenais

Clustering patterns of LOD scores for asthma-related phenotypes revealed by a genome-wide screen in 295 French EGEA families
Human Molecular Genetics Advance Access published on October 27, 2004
Hum. Mol. Genet. 2004 13: 3103-3113; doi:10.1093/hmg/ddh340 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ioannis Dragatsis, Scott Zeitlin, and Paula Dietrich

Huntingtin-associated protein 1 (Hap1) mutant mice bypassing the early postnatal lethality are neuroanatomically normal and fertile but display growth retardation
Human Molecular Genetics Advance Access published on October 20, 2004
Hum. Mol. Genet. 2004 13: 3115-3125; doi:10.1093/hmg/ddh328 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Gemma K. Alderton, Hans Joenje, Raymonda Varon, Anders D. Børglum, Penny A. Jeggo, and Mark O'Driscoll

Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway
Human Molecular Genetics Advance Access published on October 20, 2004
Hum. Mol. Genet. 2004 13: 3127-3138; doi:10.1093/hmg/ddh335 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Elena Barbacci, Angeliki Chalkiadaki, Christelle Masdeu, Cécile Haumaitre, Ludmilla Lokmane, Chantal Loirat, Sylvie Cloarec, Iannis Talianidis, Christine Bellanne-Chantelot, and Silvia Cereghini

HNF1ß/TCF2 mutations impair transactivation potential through altered co-regulator recruitment
Human Molecular Genetics Advance Access published on October 27, 2004
Hum. Mol. Genet. 2004 13: 3139-3149; doi:10.1093/hmg/ddh338 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Franck Mauvais-Jarvis, Stuart B. Smith, Cédric Le May, Suzanne M. Leal, Jean-François Gautier, Mariam Molokhia, Jean-Pierre Riveline, Arun S. Rajan, Jean-Philippe Kevorkian, Sumei Zhang, Patrick Vexiau, Michael S. German, and Christian Vaisse

PAX4 gene variations predispose to ketosis-prone diabetes
Human Molecular Genetics Advance Access published on October 27, 2004
Hum. Mol. Genet. 2004 13: 3151-3159; doi:10.1093/hmg/ddh341 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hsien-Yang Lee, Ying Xu, Yong Huang, Andrew H. Ahn, Georg W.J. Auburger, Massimo Pandolfo, Hubert Kwiecinski, David A. Grimes, Anthony E. Lang, Jorgen E. Nielsen, Yuri Averyanov, Serenella Servidei, Andrzej Friedman, Patrick Van Bogaert, Marc J. Abramowicz, Michiko K. Bruno, Beatrice F. Sorensen, Ling Tang, Ying-Hui Fu, and Louis J. Ptácek

The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway
Human Molecular Genetics Advance Access published on October 20, 2004
Hum. Mol. Genet. 2004 13: 3161-3170; doi:10.1093/hmg/ddh330 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Marilena D'Aurelio, Carl D. Gajewski, Michael T. Lin, William M. Mauck, Leon Z. Shao, Giorgio Lenaz, Carlos T. Moraes, and Giovanni Manfredi

Heterologous mitochondrial DNA recombination in human cells
Human Molecular Genetics Advance Access published on October 20, 2004
Hum. Mol. Genet. 2004 13: 3171-3179; doi:10.1093/hmg/ddh326 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M.R. Krishna Bhagavatula, Chun Fan, Gong-Qing Shen, June Cassano, Edward F. Plow, Eric J. Topol, and Qing Wang

Transcription factor MEF2A mutations in patients with coronary artery disease
Human Molecular Genetics Advance Access published on October 20, 2004
Hum. Mol. Genet. 2004 13: 3181-3188; doi:10.1093/hmg/ddh329 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jana Královicová, Sophie Houngninou-Molango, Angela Krämer, and Igor Vorechovsky

Branch site haplotypes that control alternative splicing
Human Molecular Genetics Advance Access published on October 20, 2004
Hum. Mol. Genet. 2004 13: 3189-3202; doi:10.1093/hmg/ddh334 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Nobuyoshi Jinnai, Takuro Sakagami, Takashi Sekigawa, Miho Kakihara, Toshiaki Nakajima, Kenichi Yoshida, Shin Goto, Takashi Hasegawa, Takeshi Koshino, Yoshinori Hasegawa, Hiromasa Inoue, Naohito Suzuki, Yasuyuki Sano, and Ituro Inoue

Polymorphisms in the prostaglandin E₂ receptor subtype 2 gene confer susceptibility to aspirin-intolerant asthma: a candidate gene approach
Human Molecular Genetics Advance Access published on October 20, 2004
Hum. Mol. Genet. 2004 13: 3203-3217; doi:10.1093/hmg/ddh332 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Henna Tyynismaa, Hiroshi Sembongi, Monika Bokori-Brown, Caroline Granycome, Neil Ashley, Joanna Poulton, Anu Jalanko, Johannes N. Spelbrink, Ian J. Holt, and Anu Suomalainen

Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number
Human Molecular Genetics Advance Access published on October 27, 2004
Hum. Mol. Genet. 2004 13: 3219-3227; doi:10.1093/hmg/ddh342 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Frédéric Chevessier, Brice Faraut, Aymeric Ravel-Chapuis, Pascale Richard, Karen Gaudon, Stéphanie Bauché, Cassandra Prioleau, Ruth Herbst, Evelyne Goillot, Christine Ioos, Jean-Philippe Azulay, Shahram Attarian, Jean-Paul Leroy, Emmanuel Fournier, Claire Legay, Laurent Schaeffer, Jeanine Koenig, Michel Fardeau, Bruno Eymard, Jean Pouget, and Daniel Hantaï

MUSK, a new target for mutations causing congenital myasthenic syndrome
Human Molecular Genetics Advance Access published on October 20, 2004
Hum. Mol. Genet. 2004 13: 3229-3240; doi:10.1093/hmg/ddh333 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

ERRATUM:

V. Ashley Cantrell, Sarah E. Owens, Ronald L. Chandler, David C. Airey, Kevin M. Bradley, Jeffrey R. Smith, and E. Michelle Southard-Smith

Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10^Dom mouse model of Hirschsprung disease
Hum. Mol. Genet. 2004 13: 3241; doi:10.1093/hmg/ddh343 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

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