Human Molecular Genetics

ARTICLES:

Steve Dorus, Sandra L. Gilbert, Michele L. Forster, Robert J. Barndt, and Bruce T. Lahn

The CDY-related gene family: coordinated evolution in copy number, expression profile and protein sequence
Hum. Mol. Genet. 2003 12: 1643-1650; doi:10.1093/hmg/ddg185 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jose L. Badano, Jun Chul Kim, Bethan E. Hoskins, Richard Alan Lewis, Stephen J. Ansley, David J. Cutler, Claudio Castellan, Philip L. Beales, Michel R. Leroux, and Nicholas Katsanis

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet–Biedl patients with two mutations at a second BBS locus
Hum. Mol. Genet. 2003 12: 1651-1659; doi:10.1093/hmg/ddg188 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Roland P. Kuiper, Marga Schepens, José Thijssen, Martien van Asseldonk, Eva van den Berg, Julia Bridge, Ed Schuuring, Eric F.P.M. Schoenmakers, and Ad Geurts van Kessel

Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution
Hum. Mol. Genet. 2003 12: 1661-1669; doi:10.1093/hmg/ddg178 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Asako Otomo, Shinji Hadano, Takeya Okada, Hikaru Mizumura, Ryota Kunita, Hitoshi Nishijima, Junko Showguchi-Miyata, Yoshiko Yanagisawa, Eri Kohiki, Etsuko Suga, Masanori Yasuda, Hitoshi Osuga, Takeharu Nishimoto, Shuh Narumiya, and Joh-E Ikeda

ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics
Hum. Mol. Genet. 2003 12: 1671-1687; doi:10.1093/hmg/ddg184 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Barbara Bardoni, Marie Castets, Marc-Etienne Huot, Annette Schenck, Salvatore Adinolfi, François Corbin, Annalisa Pastore, Edouard W. Khandjian, and Jean-Louis Mandel

82-FIP, a novel FMRP (Fragile X Mental Retardation Protein) interacting protein, shows a cell cycle-dependent intracellular localization
Hum. Mol. Genet. 2003 12: 1689-1698; doi:10.1093/hmg/ddg181 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Guolin Tan, Eleonora Napoli, Franco Taroni, and Gino Cortopassi

Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells
Hum. Mol. Genet. 2003 12: 1699-1711; doi:10.1093/hmg/ddg187 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Stefano C. Previtali, Barbara Zerega, Diane L. Sherman, Peter J. Brophy, Giorgia Dina, Rosalind H.M. King, Mustafa M. Salih, Laura Feltri, Angelo Quattrini, Roberto Ravazzolo, Lawrence Wrabetz, Anthony P. Monaco, and Alessandra Bolino

Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve
Hum. Mol. Genet. 2003 12: 1713-1723; doi:10.1093/hmg/ddg179 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Laura A. Lettice, Simon J.H. Heaney, Lorna A. Purdie, Li Li, Philippe de Beer, Ben A. Oostra, Debbie Goode, Greg Elgar, Robert E. Hill, and Esther de Graaff

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly
Hum. Mol. Genet. 2003 12: 1725-1735; doi:10.1093/hmg/ddg180 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

George Bakirtzis, Rukhsana Choudhry, Trond Aasen, Leonard Shore, Ken Brown, Sheila Bryson, Stephen Forrow, Laurence Tetley, Malcolm Finbow, David Greenhalgh, and Malcolm Hodgins

Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders
Hum. Mol. Genet. 2003 12: 1737-1744; doi:10.1093/hmg/ddg183 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Joyce B.J. van Meurs, Stephanie C.E. Schuit, Angélique E.A.M. Weel, Marjolein van der Klift, Arjan P. Bergink, Pascal P. Arp, Edgar M. Colin, Yue Fang, Albert Hofman, Cornelia M. van Duijn, Johannes P.T.M. van Leeuwen, Huibert A.P. Pols, and André G. Uitterlinden

Association of 5' estrogen receptor alpha gene polymorphisms with bone mineral density, vertebral bone area and fracture risk
Hum. Mol. Genet. 2003 12: 1745-1754; doi:10.1093/hmg/ddg176 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Pascal Bernard, Paisu Tang, Siyuan Liu, Phoebe Dewing, Vincent R. Harley, and Eric Vilain

Dimerization of SOX9 is required for chondrogenesis, but not for sex determination
Hum. Mol. Genet. 2003 12: 1755-1765; doi:10.1093/hmg/ddg182 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ulrich Göpfert, Michael Kullmann, and Ludger Hengst

Cell cycle-dependent translation of p27 involves a responsive element in its 5'-UTR that overlaps with a uORF
Hum. Mol. Genet. 2003 12: 1767-1779; doi:10.1093/hmg/ddg177 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Kodavali V. Chowdari, Karoly Mirnics, Prachi Semwal, Joel Wood, Elizabeth Lawrence, Triptish Bhatia, Smita N. Deshpande, B.K. Thelma, Robert E. Ferrell, Frank A. Middleton, Bernie Devlin, Pat Levitt, David A. Lewis, and Vishwajit L. Nimgaonkar

Association and linkage analyses of RGS4 polymorphisms in schizophrenia
Hum. Mol. Genet. 2003 12: 1781; doi:10.1093/hmg/ddg171 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

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