Human Molecular Genetics

ARTICLES:

Hitoshi Osaka, Yu-Lai Wang, Koji Takada, Shuichi Takizawa, Rieko Setsuie, Hang Li, Yae Sato, Kaori Nishikawa, Ying-Jie Sun, Mikako Sakurai, Takayuki Harada, Yoko Hara, Ichiro Kimura, Shigeru Chiba, Kazuhiko Namikawa, Hiroshi Kiyama, Mami Noda, Shunsuke Aoki, and Keiji Wada

Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuron
Human Molecular Genetics Advance Access published on July 1, 2003
Hum. Mol. Genet. 2003 12: 1945-1958; doi:10.1093/hmg/ddg211 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Xavier J. de Mollerat, Fiorella Gurrieri, Chad T. Morgan, Eugenio Sangiorgi, David B. Everman, Paola Gaspari, Jeanne Amiel, Michael J. Bamshad, Robert Lyle, Jean-Louis Blouin, Judith E. Allanson, Bernard Le Marec, Melba Wilson, Nancy E. Braverman, Uppala Radhakrishna, Celia Delozier-Blanchet, Albert Abbott, Vincent Elghouzzi, Stylianos Antonarakis, Roger E. Stevenson, Arnold Munnich, Giovanni Neri, and Charles E. Schwartz

A genomic rearrangement resulting in a tandem duplication is associated with split hand–split foot malformation 3 (SHFM3) at 10q24
Human Molecular Genetics Advance Access published on July 1, 2003
Hum. Mol. Genet. 2003 12: 1959-1971; doi:10.1093/hmg/ddg212 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Benjamin A. Raby, Edwin K. Silverman, Ross Lazarus, Christoph Lange, David J. Kwiatkowski, and Scott T. Weiss

Chromosome 12q harbors multiple genetic loci related to asthma and asthma-related phenotypes
Human Molecular Genetics Advance Access published on July 1, 2003
Hum. Mol. Genet. 2003 12: 1973-1979; doi:10.1093/hmg/ddg208 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Peng Hou, Lourdes Estrada, Andrew W. Kinley, J. Thomas Parsons, Anne B. Vojtek, and Jerome L. Gorski

Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape
Human Molecular Genetics Advance Access published on July 1, 2003
Hum. Mol. Genet. 2003 12: 1981-1993; doi:10.1093/hmg/ddg209 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Anil K. Agarwal, Jean-Pierre Fryns, Richard J. Auchus, and Abhimanyu Garg

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia
Human Molecular Genetics Advance Access published on July 1, 2003
Hum. Mol. Genet. 2003 12: 1995-2001; doi:10.1093/hmg/ddg213 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sabine Hofmann, Christine Philbrook, Klaus-Dieter Gerbitz, and Matthias F. Bauer

Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product
Human Molecular Genetics Advance Access published on July 1, 2003
Hum. Mol. Genet. 2003 12: 2003-2012; doi:10.1093/hmg/ddg214 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nidhi G. Saran, Mathew T. Pletcher, JoAnne E. Natale, Ying Cheng, and Roger H. Reeves

Global disruption of the cerebellar transcriptome in a Down syndrome mouse model
Human Molecular Genetics Advance Access published on July 1, 2003
Hum. Mol. Genet. 2003 12: 2013-2019; doi:10.1093/hmg/ddg217 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

He Li, Travis Wyman, Zhao-Xue Yu, Shi-Hua Li, and Xiao-Jiang Li

Abnormal association of mutant huntingtin with synaptic vesicles inhibits glutamate release
Human Molecular Genetics Advance Access published on July 1, 2003
Hum. Mol. Genet. 2003 12: 2021-2030; doi:10.1093/hmg/ddg218 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Isabel Aznarez, Elayne M. Chan, Julian Zielenski, Benjamin J. Blencowe, and Lap-Chee Tsui

Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene
Human Molecular Genetics Advance Access published on July 1, 2003
Hum. Mol. Genet. 2003 12: 2031-2040; doi:10.1093/hmg/ddg215 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Francesca Vitelli, Antonella Viola, Masae Morishima, Tiziano Pramparo, Antonio Baldini, and Elizabeth Lindsay

TBX1 is required for inner ear morphogenesis
Human Molecular Genetics Advance Access published on July 1, 2003
Hum. Mol. Genet. 2003 12: 2041-2048; doi:10.1093/hmg/ddg216 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Tamar Ben-Yosef, Inna A. Belyantseva, Thomas L. Saunders, Elizabeth D. Hughes, Kohei Kawamoto, Christina M. Van Itallie, Lisa A. Beyer, Kärin Halsey, Donald J. Gardner, Edward R. Wilcox, Julia Rasmussen, James M. Anderson, David F. Dolan, Andrew Forge, Yehoash Raphael, Sally A. Camper, and Thomas B. Friedman

Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration
Human Molecular Genetics Advance Access published on July 8, 2003
Hum. Mol. Genet. 2003 12: 2049-2061; doi:10.1093/hmg/ddg210 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jasmine C.Y. Wong, Noa Alon, Colin Mckerlie, Jun R. Huang, M. Stephen Meyn, and Manuel Buchwald

Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia
Human Molecular Genetics Advance Access published on July 1, 2003
Hum. Mol. Genet. 2003 12: 2063-2076; doi:10.1093/hmg/ddg219 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Fredrik von Wowern, Kristina Bengtsson, Cecilia M. Lindgren, Marju Orho-Melander, Frej Fyhrquist, Ulf Lindblad, Lennart Råstam, Carol Forsblom, Timo Kanninen, Peter Almgren, Philippe Burri, Per Katzman, Leif Groop, U. Lennart Hulthén, and Olle Melander

A genome wide scan for early onset primary hypertension in Scandinavians
Human Molecular Genetics Advance Access published on July 1, 2003
Hum. Mol. Genet. 2003 12: 2077-2081; doi:10.1093/hmg/ddg206 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

CORRIGENDUM:

Hyoung Doo Shin, Lyoung Hyo Kim, Byung Lae Park, Ji Hyun Jung, Jun Yeon Kim, Il-Yup Chung, Jung Sun Kim, June Hyuk Lee, Sun Hee Chung, Yong Hoon Kim, Hae-Sim Park, Jeong Hee Choi, Young Mok Lee, Sung Woo Park, Byoung Whui Choi, Soo-Jong Hong, and Choon-Sik Park

Association of Eotaxin gene family with asthma and serum total IgE
Hum. Mol. Genet. 2003 12: 2083; doi:10.1093/hmg/ddg205 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

Lyle J. Palmer, Juan C. Celedón, Harold A. Chapman, Frank E. Speizer, Scott T. Weiss, and Edwin K. Silverman

Genome-wide linkage analysis of bronchodilator responsiveness and post-bronchodilator spirometric phenotypes in chronic obstructive pulmonary disease
Hum. Mol. Genet. 2003 12: 2085; doi:10.1093/hmg/ddg207 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

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