Human Molecular Genetics

ARTICLES:

Ruth Luthi-Carter, Andrew Strand, Nikki L. Peters, Steven M. Solano, Zane R. Hollingsworth, Anil S. Menon, Ariel S. Frey, Boris S. Spektor, Ellen B. Penney, Gabriele Schilling, Christopher A. Ross, David R. Borchelt, Stephen J. Tapscott, Anne B. Young, Jang-Ho J. Cha, and James M. Olson

Decreased expression of striatal signaling genes in a mouse model of Huntington’s disease
Hum. Mol. Genet. 2000 9: 1259-1271; doi:10.1093/hmg/9.9.1259 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Michael Shapira, Ilan Tur-Kaspa, Leonard Bosgraaf, Nadav Livni, Alastair D. Grant, Dan Grisaru, Mira Korner, Richard P. Ebstein, and Hermona Soreq

A transcription-activating polymorphism in the ACHE promoter associated with acute sensitivity to anti-acetylcholinesterases
Hum. Mol. Genet. 2000 9: 1273-1281; doi:10.1093/hmg/9.9.1273 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kazuko Sukegawa, Haruki Nakamura, Zenichiro Kato, Shunji Tomatsu, Adriana M. Montaño, Toshiyuki Fukao, Gabriele Toietta, Paolo Tortora, Tadao Orii, and Naomi Kondo

Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes
Hum. Mol. Genet. 2000 9: 1283-1290; doi:10.1093/hmg/9.9.1283 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Mathias Herr, Frank Dudbridge, Patrizia Zavattari, Francesco Cucca, Cristian Guja, Ruth March, R. Duncan Campbell, Anthony H. Barnett, Stephen C. Bain, John A. Todd, and Bobby P.C. Koeleman

Evaluation of fine mapping strategies for a multifactorial disease locus: systematic linkage and association analysis of IDDM1 in the HLA region on chromosome 6p21
Hum. Mol. Genet. 2000 9: 1291-1301; doi:10.1093/hmg/9.9.1291 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Hiroki Shibata, Duong P. Huynh, and Stefan-M. Pulst

A novel protein with RNA-binding motifs interacts with ataxin-2
Hum. Mol. Genet. 2000 9: 1303-1313; doi:10.1093/hmg/9.9.1303 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Amanda M. Shearman, Jose M. Ordovas, L. Adrienne Cupples, Ernst J. Schaefer, Michael D. Harmon, Yujun Shao, J. Dianne Keen, Anita L. DeStefano, Oscar Joost, Peter W. F. Wilson, David E. Housman, and Richard H. Myers

Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3–qter: a genome-wide scan in the Framingham Study
Hum. Mol. Genet. 2000 9: 1315-1320; doi:10.1093/hmg/9.9.1315 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Mark Veugelers, Bart De Cat, Sin Ya Muyldermans, Gunter Reekmans, Nathalie Delande, Suzanne Frints, Eric Legius, Jean-Pierre Fryns, Connie Schrander-Stumpel, Bernhard Weidle, Neiva Magdalena, and Guido David

Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene
Hum. Mol. Genet. 2000 9: 1321-1328; doi:10.1093/hmg/9.9.1321 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Daniel E. Weeks, Yvette P. Conley, Tammy S. Mah, T. Otis Paul, Lawrence Morse, Julilani Ngo-Chang, J.P. Dailey, Robert E. Ferrell, and Michael B. Gorin

A full genome scan for age-related maculopathy
Hum. Mol. Genet. 2000 9: 1329-1349; doi:10.1093/hmg/9.9.1329 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Iiro Eerola, Karl H. Plate, Roland Spiegel, Laurence M. Boon, John B. Mulliken, and Miikka Vikkula

KRIT1 is mutated in hyperkeratotic cutaneous capillary–venous malformation associated with cerebral capillary malformation
Hum. Mol. Genet. 2000 9: 1351-1355; doi:10.1093/hmg/9.9.1351 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jill A. Rafael, Elizabeth R. Townsend, Sarah E. Squire, Allyson C. Potter, Jeffrey S. Chamberlain, and Kay E. Davies

Dystrophin and utrophin influence fiber type composition and post-synaptic membrane structure
Hum. Mol. Genet. 2000 9: 1357-1367; doi:10.1093/hmg/9.9.1357 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

P. Huppke, F. Laccone, N. Krämer, W. Engel, and F. Hanefeld

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients
Hum. Mol. Genet. 2000 9: 1369-1375; doi:10.1093/hmg/9.9.1369 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Thierry Bienvenu, Alain Carrié, Nicolas de Roux, Marie-Claude Vinet, Philippe Jonveaux, Philippe Couvert, Laurent Villard, Alexis Arzimanoglou, Cherif Beldjord, Michel Fontes, Marc Tardieu, and Jamel Chelly

MECP2 mutations account for most cases of typical forms of Rett syndrome
Hum. Mol. Genet. 2000 9: 1377-1384; doi:10.1093/hmg/9.9.1377 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hongwei Yu, Mi-Hye Lee, Lena Starck, Ellen R. Elias, Mira Irons, Gerald Salen, Shailendra B. Patel, and G. Stephen Tint

Spectrum of ⁷-dehydrocholesterol reductase mutations in patients with the Smith–Lemli–Opitz (RSH) syndrome
Hum. Mol. Genet. 2000 9: 1385-1391; doi:10.1093/hmg/9.9.1385 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kazuhiko Tagawa, Choji Taya, Yukiko Hayashi, Masahiro Nakagawa, Yasuko Ono, Rie Fukuda, Hajime Karasuyama, Noriko Toyama-Sorimachi, Yukiko Katsui, Shoji Hata, Shoichi Ishiura, Ikuya Nonaka, Yosuke Seyama, Kiichi Arahata, Hiromichi Yonekawa, Hiroyuki Sorimachi, and Koichi Suzuki

Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A
Hum. Mol. Genet. 2000 9: 1393-1402; doi:10.1093/hmg/9.9.1393 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jeffrey Hewett, Charo Gonzalez-Agosti, Damien Slater, Philipp Ziefer, Sang Li, Daniele Bergeron, David J. Jacoby, Laurie J. Ozelius, Vijaya Ramesh, and Xandra O. Breakefield

Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells
Hum. Mol. Genet. 2000 9: 1403-1413; doi:10.1093/hmg/9.9.1403 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J. Kirsty Millar, Julie C. Wilson-Annan, Susan Anderson, Sheila Christie, Martin S. Taylor, Colin A. M. Semple, Rebecca S. Devon, David M. St Clair, Walter J. Muir, Douglas H. R. Blackwood, and David J. Porteous

Disruption of two novel genes by a translocation co-segregating with schizophrenia
Hum. Mol. Genet. 2000 9: 1415-1423; doi:10.1093/hmg/9.9.1415 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Judy H. Cho, Dan L. Nicolae, Richard Ramos, Carter T. Fields, Karen Rabenau, Sarah Corradino, Steven R. Brant, Rafael Espinosa, Michelle LeBeau, Stephen B. Hanauer, Jason Bodzin, and Denise K. Bonen

Linkage and linkage disequilibrium in chromosome band 1p36 in American Chaldeans with inflammatory bowel disease
Hum. Mol. Genet. 2000 9: 1425-1432; doi:10.1093/hmg/9.9.1425 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hiroko Yanagisawa, Miki Bundo, Toshiyuki Miyashita, Yuko Okamura-Oho, Keiko Tadokoro, Katsushi Tokunaga, and Masao Yamada

Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine
Hum. Mol. Genet. 2000 9: 1433-1442; doi:10.1093/hmg/9.9.1433 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Alessandro Bulfone, Emilio Menguzzato, Vania Broccoli, Anna Marchitiello, Claudio Gattuso, Margherita Mariani, Gian Giacomo Consalez, Salvador Martinez, Andrea Ballabio, and Sandro Banfi

Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS
Hum. Mol. Genet. 2000 9: 1443-1452; doi:10.1093/hmg/9.9.1443 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Antoine Muchir, Gisèle Bonne, Anneke J. van der Kooi, Mia van Meegen, Frank Baas, Pieter A. Bolhuis, Marianne de Visser, and Ketty Schwartz

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
Hum. Mol. Genet. 2000 9: 1453-1459; doi:10.1093/hmg/9.9.1453 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Corrigendum
Hum. Mol. Genet. 2000 9: 1461; doi:10.1093/hmg/9.9.1461 [PDF] [Request Permissions]  

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