Human Molecular Genetics

ARTICLES:

Laure Perrin-Vidoz, Olga M. Sinilnikova, Dominique Stoppa-Lyonnet, Gilbert M. Lenoir, and Sylvie Mazoyer

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons
Hum. Mol. Genet. 2002 11: 2805-2814; doi:10.1093/hmg/11.23.2805 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Roshni R. Singaraja, Shinji Hadano, Martina Metzler, Scott Givan, Cheryl L. Wellington, Simon Warby, Anat Yanai, Claire-Anne Gutekunst, Blair R. Leavitt, Hong Yi, Keith Fichter, Lu Gan, Krista McCutcheon, Vikramjit Chopra, Jennifer Michel, Steven M. Hersch, Joh-E Ikeda, and Michael R. Hayden

HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis
Hum. Mol. Genet. 2002 11: 2815-2828; doi:10.1093/hmg/11.23.2815 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Michel Guipponi, Grégoire Vuagniaux, Marie Wattenhofer, Kazunori Shibuya, Maria Vazquez, Loretta Dougherty, Nathalie Scamuffa, Elizabeth Guida, Michiyo Okui, Colette Rossier, Manuela Hancock, Karine Buchet, Alexandre Reymond, Edith Hummler, Phillip L. Marzella, Jun Kudoh, Nobuyoshi Shimizu, Hamish S. Scott, Stylianos E. Antonarakis, and Bernard C. Rossier

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro
Hum. Mol. Genet. 2002 11: 2829-2836; doi:10.1093/hmg/11.23.2829 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Janet Brownlees, Steven Ackerley, Andrew J. Grierson, Nick J.O. Jacobsen, Kerry Shea, Brian H. Anderton, P. Nigel Leigh, Christopher E. Shaw, and Christopher C.J. Miller

Charcot–Marie–Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport
Hum. Mol. Genet. 2002 11: 2837-2844; doi:10.1093/hmg/11.23.2837 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Volney L. Sheen, Yuanyi Feng, Donna Graham, Toshiro Takafuta, Sandor S. Shapiro, and Christopher A. Walsh

Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact
Hum. Mol. Genet. 2002 11: 2845-2854; doi:10.1093/hmg/11.23.2845 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Christian Cobbold, Sreenivasan Ponnambalam, Michael J. Francis, and Anthony P. Monaco

Novel membrane traffic steps regulate the exocytosis of the Menkes disease ATPase
Hum. Mol. Genet. 2002 11: 2855-2866; doi:10.1093/hmg/11.23.2855 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Patrick L.J.M. Zeeuwen, Ivonne M.J.J. van Vlijmen-Willems, Wiljan Hendriks, Gerard F.M. Merkx, and Joost Schalkwijk

A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
Hum. Mol. Genet. 2002 11: 2867-2875; doi:10.1093/hmg/11.23.2867 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Linda M. Peters, David W. Anderson, Andrew J. Griffith, Kenneth M. Grundfast, Theresa B. San Agustin, Anne C. Madeo, Thomas B. Friedman, and Robert J. Morell

Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28
Hum. Mol. Genet. 2002 11: 2877-2885; doi:10.1093/hmg/11.23.2877 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Marina Ciullo, Marie-Anne Debily, Lorène Rozier, Monica Autiero, Alain Billault, Véronique Mayau, Sandrine El Marhomy, John Guardiola, Alain Bernheim, Philippe Coullin, Dominique Piatier-Tonneau, and Michelle Debatisse

Initiation of the breakage–fusion-bridge mechanism through common fragile site activation in human breast cancer cells: the model of PIP gene duplication from a break at FRA7I
Hum. Mol. Genet. 2002 11: 2887-2894; doi:10.1093/hmg/11.23.2887 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

H.Y. Edwin Chan, John M. Warrick, Isabella Andriola, Diane Merry, and Nancy M. Bonini

Genetic modulation of polyglutamine toxicity by protein conjugation pathways in Drosophila
Hum. Mol. Genet. 2002 11: 2895-2904; doi:10.1093/hmg/11.23.2895 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Wen Yang, John R. Dunlap, Richard B. Andrews, and Ronald Wetzel

Aggregated polyglutamine peptides delivered to nuclei are toxic to mammalian cells
Hum. Mol. Genet. 2002 11: 2905-2917; doi:10.1093/hmg/11.23.2905 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Elena Botta, Tiziana Nardo, Alan R. Lehmann, Jean-Marc Egly, Antonia M. Pedrini, and Miria Stefanini

Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy
Hum. Mol. Genet. 2002 11: 2919-2928; doi:10.1093/hmg/11.23.2919 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Maria Zeniou, Thomas Ding, Elisabeth Trivier, and André Hanauer

Expression analysis of RSK gene family members: the RSK2 gene, mutated in Coffin–Lowry syndrome, is prominently expressed in brain structures essential for cognitive function and learning
Hum. Mol. Genet. 2002 11: 2929-2940; doi:10.1093/hmg/11.23.2929 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Rossella Di Giaimo, Massimo Riccio, Spartaco Santi, Cesira Galeotti, Davide C. Ambrosetti, and Marialuisa Melli

New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B
Hum. Mol. Genet. 2002 11: 2941-2950; doi:10.1093/hmg/11.23.2941 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kimihiko Oishi, Susanna Hofmann, George A. Diaz, Tartania Brown, Deepa Manwani, Lily Ng, Randy Young, Helen Vlassara, Yiannis A. Ioannou, Douglas Forrest, and Bruce D. Gelb

Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice
Hum. Mol. Genet. 2002 11: 2951-2960; doi:10.1093/hmg/11.23.2951 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Siân Jones, Paul Emmerson, Julie Maynard, Jacqueline M. Best, Sheila Jordan, Geraint T. Williams, Julian R. Sampson, and Jeremy P. Cheadle

Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:CT:A mutations
Hum. Mol. Genet. 2002 11: 2961-2967; doi:10.1093/hmg/11.23.2961 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Roger Cox, Nourdine Bouzekri, Sabrina Martin, Lorraine Southam, Alison Hugill, Mahamadee Golamaully, Richard Cooper, Adebowale Adeyemo, Florent Soubrier, Ryk Ward, G. Mark Lathrop, Fumihiko Matsuda, and Martin Farrall

Angiotensin-1-converting enzyme (ACE) plasma concentration is influenced by multiple ACE-linked quantitative trait nucleotides
Hum. Mol. Genet. 2002 11: 2969-2977; doi:10.1093/hmg/11.23.2969 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jürgen Kohlhase, Marielle Heinrich, Lucia Schubert, Manuela Liebers, Andreas Kispert, Franco Laccone, Peter Turnpenny, Robin M. Winter, and William Reardon

Okihiro syndrome is caused by SALL4 mutations
Hum. Mol. Genet. 2002 11: 2979-2987; doi:10.1093/hmg/11.23.2979 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Luigi Pianese, Luca Busino, Irene De Biase, Tiziana de Cristofaro, Maria S. Lo Casale, Paola Giuliano, Antonella Monticelli, Mimmo Turano, Chiara Criscuolo, Alessandro Filla, Stelio Varrone, and Sergio Cocozza

Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells
Hum. Mol. Genet. 2002 11: 2989-2996; doi:10.1093/hmg/11.23.2989 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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