Human Molecular Genetics

ARTICLES:

Avital Adato, Vincent Michel, Yoshiaki Kikkawa, Jan Reiners, Kumar N. Alagramam, Dominique Weil, Hiromichi Yonekawa, Uwe Wolfrum, Aziz El-Amraoui, and Christine Petit

Interactions in the network of Usher syndrome type 1 proteins
Human Molecular Genetics Advance Access published on December 8, 2004
Hum. Mol. Genet. 2005 14: 347-356; doi:10.1093/hmg/ddi031 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Tzu-Kang Sang, Chenjian Li, Wencheng Liu, Antony Rodriguez, John M. Abrams, S. Lawrence Zipursky, and George R. Jackson

Inactivation of Drosophila Apaf-1 related killer suppresses formation of polyglutamine aggregates and blocks polyglutamine pathogenesis
Human Molecular Genetics Advance Access published on December 8, 2004
Hum. Mol. Genet. 2005 14: 357-372; doi:10.1093/hmg/ddi032 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

L. Dauphinot, R. Lyle, I. Rivals, M. Tran Dang, R.X. Moldrich, G. Golfier, L. Ettwiller, K. Toyama, J. Rossier, L. Personnaz, S.E. Antonarakis, C.J. Epstein, P.-M. Sinet, and M.-C. Potier

The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome
Human Molecular Genetics Advance Access published on December 8, 2004
Hum. Mol. Genet. 2005 14: 373-384; doi:10.1093/hmg/ddi033 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Anna Benet-Pagès, Peter Orlik, Tim M. Strom, and Bettina Lorenz-Depiereux

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia
Human Molecular Genetics Advance Access published on December 8, 2004
Hum. Mol. Genet. 2005 14: 385-390; doi:10.1093/hmg/ddi034 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Yoshiaki Kikkawa, Philomena Mburu, Sue Morse, Ryo Kominami, Stuart Townsend, and Steve D.M. Brown

Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium
Human Molecular Genetics Advance Access published on December 8, 2004
Hum. Mol. Genet. 2005 14: 391-400; doi:10.1093/hmg/ddi035 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Benjamin Delprat, Vincent Michel, Richard Goodyear, Yasuhiro Yamasaki, Nicolas Michalski, Aziz El-Amraoui, Isabelle Perfettini, Pierre Legrain, Guy Richardson, Jean-Pierre Hardelin, and Christine Petit

Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly
Human Molecular Genetics Advance Access published on December 8, 2004
Hum. Mol. Genet. 2005 14: 401-410; doi:10.1093/hmg/ddi036 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Lucia Brown, Melinda Paraso, Ruth Arkell, and Stephen Brown

In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation
Human Molecular Genetics Advance Access published on December 8, 2004
Hum. Mol. Genet. 2005 14: 411-420; doi:10.1093/hmg/ddi037 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Marie Sémon, Dominique Mouchiroud, and Laurent Duret

Relationship between gene expression and GC-content in mammals: statistical significance and biological relevance
Human Molecular Genetics Advance Access published on December 8, 2004
Hum. Mol. Genet. 2005 14: 421-427; doi:10.1093/hmg/ddi038 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Lynsey Meikle, Julie R. McMullen, Megan C. Sherwood, Alan S. Lader, Victoria Walker, Jennifer A. Chan, and David J. Kwiatkowski

A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes
Human Molecular Genetics Advance Access published on December 15, 2004
Hum. Mol. Genet. 2005 14: 429-435; doi:10.1093/hmg/ddi039 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Feng Lin, Juliet M. Morrison, Wei Wu, and Howard J. Worman

MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-ß signaling
Human Molecular Genetics Advance Access published on December 15, 2004
Hum. Mol. Genet. 2005 14: 437-445; doi:10.1093/hmg/ddi040 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nilüfer Ertekin-Taner, James Ronald, Lars Feuk, Jonathan Prince, Michael Tucker, Linda Younkin, Maria Hella, Shushant Jain, Alyssa Hackett, Leah Scanlin, Jason Kelly, Muthoni Kihiko-Ehman, Matthew Neltner, Louis Hersh, Mark Kindy, William Markesbery, Michael Hutton, Mariza de Andrade, Ronald C. Petersen, Neill Graff-Radford, Steve Estus, Anthony J. Brookes, and Steven G. Younkin

Elevated amyloid ß protein (Aß42) and late onset Alzheimer's disease are associated with single nucleotide polymorphisms in the urokinase-type plasminogen activator gene
Human Molecular Genetics Advance Access published on December 22, 2004
Hum. Mol. Genet. 2005 14: 447-460; doi:10.1093/hmg/ddi041 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

ERRATUM:

Nùria Fonknechten, Delphine Mavel, Paula Byrne, Claire-Sophie Davoine, Corinne Cruaud, Dominikus Bönsch, Delphine Samson, Paula Coutinho, Michael Hutchinson, Paul McMonagle, Jean-Marc Burgunder, Antonio Tartaglione, Olivier Heinzlef, Imed Feki, Thomas Deufel, Nollaig Parfrey, Alexis Brice, Bertrand Fontaine, Jean-François Prud'homme, Jean Weissenbach, Alexandra Dürr, and Jamilé Hazan

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
Hum. Mol. Genet. 2005 14: 461; doi:10.1093/hmg/ddi044 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

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