Human Molecular Genetics

REPORTS:

Yoshihide Sunada, Hiroko Ohi, Asako Hase, Hiroaki Ohi, Tomohiko Hosono, Satoru Arata, Shigesada Higuchi, Kiichiro Matsumura, and Teruo Shimizu

Transgenic mice expressing mutant caveolin-3 show severe myopathy associated with increased nNOS activity
Hum. Mol. Genet. 2001 10: 173-178; doi:10.1093/hmg/10.3.173 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sek Mardy, Yuichi Miura, Fumio Endo, Ichiro Matsuda, and Yasuhiro Indo

Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor
Hum. Mol. Genet. 2001 10: 179-188; doi:10.1093/hmg/10.3.179 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Natascia Tiso, Dietrich A. Stephan, Andrea Nava, Alessia Bagattin, Joseph M. Devaney, Fabio Stanchi, Gaelle Larderet, Bhoomi Brahmbhatt, Kevin Brown, Barbara Bauce, Michela Muriago, Cristina Basso, Gaetano Thiene, Gian Antonio Danieli, and Alessandra Rampazzo

Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
Hum. Mol. Genet. 2001 10: 189-194; doi:10.1093/hmg/10.3.189 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sigrid Wayne, Nahid G. Robertson, Frank DeClau, Nancy Chen, Kristien Verhoeven, Sai Prasad, Lisbeth Tranebjärg, Cynthia C. Morton, Allen F. Ryan, Guy Van Camp, and Richard J.H. Smith

Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus
Hum. Mol. Genet. 2001 10: 195-200; doi:10.1093/hmg/10.3.195 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jutta Wirth, Elke Back, Alexander Hüttenhofer, Hans-Gerd Nothwang, Christina Lich, Stephanie Gross, Corinna Menzel, Albert Schinzel, Petra Kioschis, Niels Tommerup, Hans-Hilger Ropers, Bernhard Horsthemke, and Karin Buiting

A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15
Hum. Mol. Genet. 2001 10: 201-210; doi:10.1093/hmg/10.3.201 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Shelagh Boyle, Susan Gilchrist, Joanna M. Bridger, Nicola L. Mahy, Juliet A. Ellis, and Wendy A. Bickmore

The spatial organization of human chromosomes within the nuclei of normal and emerin-mutant cells
Hum. Mol. Genet. 2001 10: 211-219; doi:10.1093/hmg/10.3.211 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

John A. McGrath, Pascal H.G. Duijf, Volker Doetsch, Alan D. Irvine, Rob de Waal, Kaate R.J. Vanmolkot, Vesarat Wessagowit, Alexander Kelly, David J. Atherton, W. Andrew D. Griffiths, Seth J. Orlow, Arie van Haeringen, Margreet G.E.M. Ausems, Annie Yang, Frank McKeon, Michael A. Bamshad, Han G. Brunner, Ben C.J. Hamel, and Hans van Bokhoven

Hay–Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
Hum. Mol. Genet. 2001 10: 221-229; doi:10.1093/hmg/10.3.221 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Elena V. Semina, Isaac Brownell, Helen A. Mintz-Hittner, Jeffrey C. Murray, and Milan Jamrich

Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts
Hum. Mol. Genet. 2001 10: 231-236; doi:10.1093/hmg/10.3.231 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Liang-Ping Weng, Jessica L. Brown, and Charis Eng

PTEN induces apoptosis and cell cycle arrest through phosphoinositol-3-kinase/Akt-dependent and -independent pathways
Hum. Mol. Genet. 2001 10: 237-242; doi:10.1093/hmg/10.3.237 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

N. Simon Thomas, Sarah Ennis, Andrew J. Sharp, Miranda Durkie, Terry J. Hassold, Andrew R. Collins, and Patricia A. Jacobs

Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors
Hum. Mol. Genet. 2001 10: 243-250; doi:10.1093/hmg/10.3.243 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Liang-Ping Weng, Oliver Gimm, Jennifer B. Kum, Wendy M. Smith, Xiao-Ping Zhou, David Wynford-Thomas, Gustavo Leone, and Charis Eng

Transient ectopic expression of PTEN in thyroid cancer cell lines induces cell cycle arrest and cell type-dependent cell death
Hum. Mol. Genet. 2001 10: 251-258; doi:10.1093/hmg/10.3.251 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Donna M. Gordon, Mikhail Kogan, Simon A.B. Knight, Andrew Dancis, and Debkumar Pain

Distinct roles for two N-terminal cleaved domains in mitochondrial import of the yeast frataxin homolog, Yfh1p
Hum. Mol. Genet. 2001 10: 259-269; doi:10.1093/hmg/10.3.259 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Carl E.G. Bruder, Carina Hirvelä, Isabel Tapia-Paez, Ingegerd Fransson, Richard Segraves, Greg Hamilton, Xiao Xiao Zhang, D. Gareth Evans, Andrew J. Wallace, Michael E. Baser, Jessica Zucman-Rossi, Martin Hergersberg, Eugene Boltshauser, Laura Papi, Guy A. Rouleau, George Poptodorov, Albena Jordanova, Helge Rask-Andersen, Lan Kluwe, Victor Mautner, Markku Sainio, Gene Hung, Tiit Mathiesen, Claes Möller, Stefan M. Pulst, Henrik Harder, Arvid Heiberg, Mariko Honda, Michihito Niimura, Sigrid Sahlén, Elisabeth Blennow, Donna G. Albertson, Daniel Pinkel, and Jan P. Dumanski

High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
Hum. Mol. Genet. 2001 10: 271-282; doi:10.1093/hmg/10.3.271 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Katrin Handschug, Silke Sperling, Sung-Joo Kim Yoon, Steffen Hennig, Adrian J.L. Clark, and Angela Huebner

Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene
Hum. Mol. Genet. 2001 10: 283-290; doi:10.1093/hmg/10.3.283 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kim M. Keeling, Doug A. Brooks, John J. Hopwood, Peining Li, Jerry N. Thompson, and David M. Bedwell

Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of -L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation
Hum. Mol. Genet. 2001 10: 291-299; doi:10.1093/hmg/10.3.291 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Hum. Mol. Genet. 2001 10: 301; doi:10.1093/hmg/10.3.301 [PDF] [Request Permissions]  

To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.