Human Molecular Genetics

ARTICLES:

Tomoko Oeda, Shun Shimohama, Naoyuki Kitagawa, Ryuichi Kohno, Tetsuya Imura, Hiroshi Shibasaki, and Naoaki Ishii

Oxidative stress causes abnormal accumulation of familial amyotrophic lateral sclerosis-related mutant SOD1 in transgenic Caenorhabditis elegans
Hum. Mol. Genet. 2001 10: 2013-2023; doi:10.1093/hmg/10.19.2013 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Francesco Cucca, Rosannna Lampis, Mauro Congia, Efisio Angius, Sarah Nutland, Stephen C. Bain, Anthony H. Barnett, and John A. Todd

A correlation between the relative predisposition of MHC class II alleles to type 1 diabetes and the structure of their proteins
Hum. Mol. Genet. 2001 10: 2025-2037; doi:10.1093/hmg/10.19.2025 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

N. Raben, N. Lu, K. Nagaraju, Y. Rivera, A. Lee, B. Yan, B. Byrne, P.J. Meikle, K. Umapathysivam, J.J. Hopwood, and P.H. Plotz

Conditional tissue-specific expression of the acid -glucosidase (GAA) gene in the GAA knockout mice: implications for therapy
Hum. Mol. Genet. 2001 10: 2039-2047; doi:10.1093/hmg/10.19.2039 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Dirk A. Kleinjan, Anne Seawright, Andreas Schedl, Roy A Quinlan, Sarah Danes, and Veronica van Heyningen

Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6
Hum. Mol. Genet. 2001 10: 2049-2059; doi:10.1093/hmg/10.19.2049 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Karine Chantrel-Groussard, Vanna Geromel, Hélène Puccio, Michel Koenig, Arnold Munnich, Agnès Rötig, and Pierre Rustin

Disabled early recruitment of antioxidant defenses in Friedreich’s ataxia
Hum. Mol. Genet. 2001 10: 2061-2067; doi:10.1093/hmg/10.19.2061 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Keith B. Cox, Doug A. Hamm, David S. Millington, Dietrich Matern, Jerry Vockley, Piero Rinaldo, Carl A. Pinkert, William J. Rhead, J. Russell Lindsey, and Philip A. Wood

Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse
Hum. Mol. Genet. 2001 10: 2069-2077; doi:10.1093/hmg/10.19.2069 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

D. Furling, L. Coiffier, V. Mouly, J.P. Barbet, J. Lacau St Guily, K. Taneja, G. Gourdon, C. Junien, and G.S. Butler-Browne

Defective satellite cells in congenital myotonic dystrophy
Hum. Mol. Genet. 2001 10: 2079-2087; doi:10.1093/hmg/10.19.2079 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Heike Thomas, Karin Jaschkowitz, Mike Bulman, Timothy M. Frayling, Simon M.S. Mitchell, Simone Roosen, Anja Lingott-Frieg, Cees J. Tack, Sian Ellard, Gerhart U. Ryffel, and Andrew T. Hattersley

A distant upstream promoter of the HNF-4 gene connects the transcription factors involved in maturity-onset diabetes of the young
Hum. Mol. Genet. 2001 10: 2089-2097; doi:10.1093/hmg/10.19.2089 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Guolin Tan, Li-Sheng Chen, Bo Lonnerdal, Cinzia Gellera, Franco A. Taroni, and Gino A. Cortopassi

Frataxin expression rescues mitochondrial dysfunctions in FRDA cells
Hum. Mol. Genet. 2001 10: 2099-2107; doi:10.1093/hmg/10.19.2099 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nicholas D. Mazarakis, Mimoun Azzouz, Jonathan B. Rohll, Fiona M. Ellard, Fraser J. Wilkes, Anna L. Olsen, Emma E. Carter, Robert D. Barber, Dilair F. Baban, Susan M. Kingsman, Alan J. Kingsman, Karen O’Malley, and Kyriacos A. Mitrophanous

Rabies virus glycoprotein pseudotyping of lentiviral vectors enables retrograde axonal transport and access to the nervous system after peripheral delivery
Hum. Mol. Genet. 2001 10: 2109-2121; doi:10.1093/hmg/10.19.2109 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kaisu Luiro, Outi Kopra, Maarit Lehtovirta, and Anu Jalanko

CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease
Hum. Mol. Genet. 2001 10: 2123-2131; doi:10.1093/hmg/10.19.2123 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C. Romualdi, S. Bortoluzzi, and G.A. Danieli

Detecting differentially expressed genes in multiple tag sampling experiments: comparative evaluation of statistical tests
Hum. Mol. Genet. 2001 10: 2133-2141; doi:10.1093/hmg/10.19.2133 [Abstract] [FREE Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Nicolas Sergeant, Bernard Sablonnière, Suzanna Schraen-Maschke, Antoine Ghestem, Claude-Alain Maurage, Annick Wattez, Patrick Vermersch, and André Delacourte

Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1
Hum. Mol. Genet. 2001 10: 2143-2155; doi:10.1093/hmg/10.19.2143 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Koustubh Ranade, Kwan-Dun Wu, Chii-Min Hwu, Chih-Tai Ting, Dee Pei, Robert Pesich, Joan Hebert, Yii-Der I. Chen, Richard Pratt, Richard Olshen, Kamal Masaki, Neil Risch, David R. Cox, and David Botstein

Genetic variation in the human urea transporter-2 is associated with variation in blood pressure
Hum. Mol. Genet. 2001 10: 2157-2164; doi:10.1093/hmg/10.19.2157 [Abstract] [FREE Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Ami Mankodi, Carl R. Urbinati, Qiu-Ping Yuan, Richard T Moxley, Valeria Sansone, Matt Krym, Donald Henderson, Martin Schalling, Maurice S. Swanson, and Charles A. Thornton

Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2
Hum. Mol. Genet. 2001 10: 2165-2170; doi:10.1093/hmg/10.19.2165 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Swaroop Aradhya, Hayley Woffendin, Tracy Jakins, Tiziana Bardaro, Teresa Esposito, Asmae Smahi, Christine Shaw, Moise Levy, Arnold Munnich, Michele D’Urso, Richard A. Lewis, Sue Kenwrick, and David L. Nelson

A recurrent deletion in the ubiquitously expressed NEMO (IKK-) gene accounts for the vast majority of incontinentia pigmenti mutations
Hum. Mol. Genet. 2001 10: 2171-2179; doi:10.1093/hmg/10.19.2171 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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