Human Molecular Genetics

ARTICLES

Get checked abstract Frode Lingaas, Kenine E. Comstock, Ewen F. Kirkness, Anita Sørensen, Tone Aarskaug, Christophe Hitte, Michael L. Nickerson, Lars Moe, Laura S. Schmidt, Rachael Thomas, Matthew Breen, Francis Galibert, Berton Zbar, and Elaine A. Ostrander

A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog
Human Molecular Genetics Advance Access published on October 7, 2003
Hum. Mol. Genet. 2003 12: 3043-3053; doi:10.1093/hmg/ddg336 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Kinji Ohno, Margherita Milone, Xin-Ming Shen, and Andrew G. Engel

A frameshifting mutation in CHRNE unmasks skipping of the preceding exon
Human Molecular Genetics Advance Access published on October 7, 2003
Hum. Mol. Genet. 2003 12: 3055-3066; doi:10.1093/hmg/ddg334 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Li-Sheng Chen, Flora Tassone, Parminder Sahota, and Paul J. Hagerman

The (CGG)_n repeat element within the 5' untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter
Human Molecular Genetics Advance Access published on September 30, 2003
Hum. Mol. Genet. 2003 12: 3067-3074; doi:10.1093/hmg/ddg331 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Kenneth R. Johnson, Leona H. Gagnon, Lisa S. Webb, Luanne L. Peters, Norman L. Hawes, Bo Chang, and Qing Yin Zheng

Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene
Human Molecular Genetics Advance Access published on September 30, 2003
Hum. Mol. Genet. 2003 12: 3075-3086; doi:10.1093/hmg/ddg332 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Rachid Mazroui, Marc-Etienne Huot, Sandra Tremblay, Nathalie Boilard, Yves Labelle, and Edouard W. Khandjian

Fragile X Mental Retardation protein determinants required for its association with polyribosomal mRNPs
Human Molecular Genetics Advance Access published on October 7, 2003
Hum. Mol. Genet. 2003 12: 3087-3096; doi:10.1093/hmg/ddg335 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Philippe Le Corvoisier, Hyun-Young Park, Kerri M. Carlson, Douglas A. Marchuk, and Howard A. Rockman

Multiple quantitative trait loci modify the heart failure phenotype in murine cardiomyopathy
Human Molecular Genetics Advance Access published on September 30, 2003
Hum. Mol. Genet. 2003 12: 3097-3107; doi:10.1093/hmg/ddg333 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Jeffrey M. Craig, Elizabeth Earle, Paul Canham, Lee H. Wong, Melissa Anderson, and K.H. Andy Choo

Analysis of mammalian proteins involved in chromatin modification reveals new metaphase centromeric proteins and distinct chromosomal distribution patterns
Human Molecular Genetics Advance Access published on September 30, 2003
Hum. Mol. Genet. 2003 12: 3109-3121; doi:10.1093/hmg/ddg330 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Flavia Cerrato, Wendy Dean, Karen Davies, Kazuhiro Kagotani, Kohzoh Mitsuya, Katsuzumi Okumura, Andrea Riccio, and Wolf Reik

Paternal imprints can be established on the maternal Igf2-H19 locus without altering replication timing of DNA
Human Molecular Genetics Advance Access published on October 7, 2003
Hum. Mol. Genet. 2003 12: 3123-3132; doi:10.1093/hmg/ddg338 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Nilüfer Ertekin-Taner, James Ronald, Hideaki Asahara, Linda Younkin, Maria Hella, Shushant Jain, Eugene Gnida, Samuel Younkin, Daniel Fadale, Yasumasa Ohyagi, Adam Singleton, Leah Scanlin, Mariza de Andrade, Ronald Petersen, Neill Graff-Radford, Michael Hutton, and Steven Younkin

Fine mapping of the -T catenin gene to a quantitative trait locus on chromosome 10 in late-onset Alzheimer's disease pedigrees
Human Molecular Genetics Advance Access published on October 14, 2003
Hum. Mol. Genet. 2003 12: 3133-3143; doi:10.1093/hmg/ddg343 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract William Y. S. Wang and John A. Todd

The usefulness of different density SNP maps for disease association studies of common variants
Human Molecular Genetics Advance Access published on October 7, 2003
Hum. Mol. Genet. 2003 12: 3145-3149; doi:10.1093/hmg/ddg337 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract William Hennah, Teppo Varilo, Marjo Kestilä, Tiina Paunio, Ritva Arajärvi, Jari Haukka, Alex Parker, Rory Martin, Steve Levitzky, Timo Partonen, Joanne Meyer, Jouko Lönnqvist, Leena Peltonen, and Jesper Ekelund

Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects
Human Molecular Genetics Advance Access published on October 7, 2003
Hum. Mol. Genet. 2003 12: 3151-3159; doi:10.1093/hmg/ddg341 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Maria Elena Fernández-Sánchez, Olga Criado-García, Karen E. Heath, Belén García-Fojeda, Iria Medraño-Fernández, Pilar Gomez-Garre, Pascual Sanz, José María Serratosa, and Santiago Rodríguez de Córdoba

Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation
Human Molecular Genetics Advance Access published on October 7, 2003
Hum. Mol. Genet. 2003 12: 3161-3171; doi:10.1093/hmg/ddg340 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Loïc de Pontual, Virginie Népote, Tania Attié-Bitach, Hassan Al Halabiah, Ha Trang, Vincent Elghouzzi, Béatrice Levacher, Karim Benihoud, Joëlle Augé, Christophe Faure, Béatrice Laudier, Michel Vekemans, Arnold Munnich, Michel Perricaudet, François Guillemot, Claude Gaultier, Stanislas Lyonnet, Michel Simonneau, and Jeanne Amiel

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)
Human Molecular Genetics Advance Access published on October 7, 2003
Hum. Mol. Genet. 2003 12: 3173-3180; doi:10.1093/hmg/ddg339 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Günther A. Rezniczek, Christina Abrahamsberg, Peter Fuchs, Daniel Spazierer, and Gerhard Wiche

Plectin 5'-transcript diversity: short alternative sequences determine stability of gene products, initiation of translation and subcellular localization of isoforms
Human Molecular Genetics Advance Access published on October 14, 2003
Hum. Mol. Genet. 2003 12: 3181-3194; doi:10.1093/hmg/ddg345 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Barrington Burnett, Fusheng Li, and Randall N. Pittman

The polyglutamine neurodegenerative protein ataxin-3 binds polyubiquitylated proteins and has ubiquitin protease activity
Human Molecular Genetics Advance Access published on October 14, 2003
Hum. Mol. Genet. 2003 12: 3195-3205; doi:10.1093/hmg/ddg344 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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