Human Molecular Genetics

ARTICLES:

Dieter Näf, Lawriston A. Wilson, Rebecca A. Bergstrom, Richard S. Smith, Neal C. Goodwin, Annemieke Verkerk, Gert Jan van Ommen, Susan L. Ackerman, Wayne N. Frankel, and John C. Schimenti

Mouse models for the Wolf–Hirschhorn deletion syndrome
Hum. Mol. Genet. 2001 10: 91-98; doi:10.1093/hmg/10.2.91 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Susan M. Medghalchi, Pamela A. Frischmeyer, Joshua T. Mendell, Amy G. Kelly, Ann M. Lawler, and Harry C. Dietz

Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability
Hum. Mol. Genet. 2001 10: 99-105; doi:10.1093/hmg/10.2.99 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Annette Abel, Jessica Walcott, JoAnne Woods, John Duda, and Diane E. Merry

Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice
Hum. Mol. Genet. 2001 10: 107-116; doi:10.1093/hmg/10.2.107 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nasreen Jacobson, Michael Andrews, Allan R. Shepard, Darryl Nishimura, Charles Searby, John H. Fingert, Greg Hageman, Robert Mullins, Beverly L. Davidson, Young H. Kwon, W.L.M. Alward, Edwin M. Stone, Abbot F. Clark, and Val C. Sheffield

Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor
Hum. Mol. Genet. 2001 10: 117-125; doi:10.1093/hmg/10.2.117 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Thanh-Phuong Thai, Claus Rodemer, Anna Jauch, Andreas Hunziker, Ann Moser, Karin Gorgas, and Wilhelm W. Just

Impaired membrane traffic in defective ether lipid biosynthesis
Hum. Mol. Genet. 2001 10: 127-136; doi:10.1093/hmg/10.2.127 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Chin-Hsing Lin, Sara Tallaksen-Greene, Wei-Ming Chien, Jamie A. Cearley, Walker S. Jackson, Andrew B. Crouse, Songrong Ren, Xiao-Jiang Li, Roger L. Albin, and Peter J. Detloff

Neurological abnormalities in a knock-in mouse model of Huntington’s disease
Hum. Mol. Genet. 2001 10: 137-144; doi:10.1093/hmg/10.2.137 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

John N. Fain, Nobel A. Del Mar, Christopher A. Meade, Anton Reiner, and Daniel Goldowitz

Abnormalities in the functioning of adipocytes from R6/2 mice that are transgenic for the Huntington’s disease mutation
Hum. Mol. Genet. 2001 10: 145-152; doi:10.1093/hmg/10.2.145 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Lorraine A. Everett, Inna A. Belyantseva, Konrad Noben-Trauth, Raquel Cantos, Amy Chen, Sneha I. Thakkar, Shelley L. Hoogstraten-Miller, Bechara Kachar, Doris K. Wu, and Eric D. Green

Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome
Hum. Mol. Genet. 2001 10: 153-161; doi:10.1093/hmg/10.2.153 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Zayd A. Eldadah, Ada Hamosh, Nancy J. Biery, Robert A. Montgomery, Melinda Duke, Ronald Elkins, and Harry C. Dietz

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene
Hum. Mol. Genet. 2001 10: 163-169; doi:10.1093/hmg/10.2.163 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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