Human Molecular Genetics

ARTICLES:

Martin J. Lercher, Araxi O. Urrutia, Adam Pavlícek, and Laurence D. Hurst

A unification of mosaic structures in the human genome
Human Molecular Genetics Advance Access published on July 29, 2003
Hum. Mol. Genet. 2003 12: 2411-2415; doi:10.1093/hmg/ddg251 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Emmanuelle Bitoun, Alessia Micheloni, Laurence Lamant, Chrystelle Bonnart, Alessandro Tartaglia-Polcini, Christian Cobbold, Talal Al Saati, Feliciana Mariotti, Juliette Mazereeuw-Hautier, Franck Boralevi, Daniel Hohl, John Harper, Christine Bodemer, Marina D'Alessio, and Alain Hovnanian

LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome
Human Molecular Genetics Advance Access published on July 29, 2003
Hum. Mol. Genet. 2003 12: 2417-2430; doi:10.1093/hmg/ddg247 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Dervila Glynn, Rachel A. Bortnick, and A. Jennifer Morton

Complexin II is essential for normal neurological function in mice
Human Molecular Genetics Advance Access published on July 29, 2003
Hum. Mol. Genet. 2003 12: 2431-2448; doi:10.1093/hmg/ddg249 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Adèle Faucherre, Pierrette Desbois, Véronique Satre, Joël Lunardi, Olivier Dorseuil, and Gérard Gacon

Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network
Human Molecular Genetics Advance Access published on July 29, 2003
Hum. Mol. Genet. 2003 12: 2449-2456; doi:10.1093/hmg/ddg250 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Clemens R. Scherzer, Roderick V. Jensen, Steven R. Gullans, and Mel B. Feany

Gene expression changes presage neurodegeneration in a Drosophila model of Parkinson's disease
Human Molecular Genetics Advance Access published on August 5, 2003
Hum. Mol. Genet. 2003 12: 2457-2466; doi:10.1093/hmg/ddg265 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Behzad Moghadaszadeh, Reidar Albrechtsen, Ling T. Guo, Michaela Zaik, Nobuko Kawaguchi, Rehannah H. Borup, Pauliina Kronqvist, Henrik D. Schröder, Kay E. Davies, Thomas Voit, Finn C. Nielsen, Eva Engvall, and Ulla M. Wewer

Compensation for dystrophin-deficiency: ADAM12 overexpression in skeletal muscle results in increased 7 integrin, utrophin and associated glycoproteins
Human Molecular Genetics Advance Access published on August 5, 2003
Hum. Mol. Genet. 2003 12: 2467-2479; doi:10.1093/hmg/ddg264 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L. Brichta, Y. Hofmann, E. Hahnen, F. A. Siebzehnrubl, H. Raschke, I. Blumcke, I. Y. Eyupoglu, and B. Wirth

Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy
Human Molecular Genetics Advance Access published on July 29, 2003
Hum. Mol. Genet. 2003 12: 2481-2489; doi:10.1093/hmg/ddg256 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

David R. FitzPatrick, Ian M. Carr, Lorna McLaren, Jack P. Leek, Patrick Wightman, Kathy Williamson, Philippe Gautier, Niolette McGill, Caroline Hayward, Helen Firth, Alex F. Markham, Judy A. Fantes, and David T. Bonthron

Identification of SATB2 as the cleft palate gene on 2q32–q33
Human Molecular Genetics Advance Access published on July 29, 2003
Hum. Mol. Genet. 2003 12: 2491-2501; doi:10.1093/hmg/ddg248 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Shobbir Hussain, Emily Witt, Pia A.J. Huber, Annette L. Medhurst, Alan Ashworth, and Christopher G. Mathew

Direct interaction of the Fanconi anaemia protein FANCG with BRCA2/FANCD1
Human Molecular Genetics Advance Access published on August 5, 2003
Hum. Mol. Genet. 2003 12: 2503-2510; doi:10.1093/hmg/ddg266 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Zameel M. Cader, Sandra Noble-Topham, David A. Dyment, Stacey S. Cherny, John D. Brown, George P.A. Rice, and George C. Ebers

Significant linkage to migraine with aura on chromosome 11q24
Human Molecular Genetics Advance Access published on July 29, 2003
Hum. Mol. Genet. 2003 12: 2511-2517; doi:10.1093/hmg/ddg252 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hong Guo, Liching Lai, Matthew E.R. Butchbach, Michael P. Stockinger, Xiu Shan, Georgia A. Bishop, and Chien-liang Glenn Lin

Increased expression of the glial glutamate transporter EAAT2 modulates excitotoxicity and delays the onset but not the outcome of ALS in mice
Human Molecular Genetics Advance Access published on August 5, 2003
Hum. Mol. Genet. 2003 12: 2519-2532; doi:10.1093/hmg/ddg267 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jau-Tsuen Kao, Hui-Chin Wen, Kuo-Liong Chien, Hey-Chi Hsu, and Shu-Wha Lin

A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia
Human Molecular Genetics Advance Access published on July 29, 2003
Hum. Mol. Genet. 2003 12: 2533-2539; doi:10.1093/hmg/ddg255 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Yoon Jun Kim, Hyo-Suk Lee, Jung-Hwan Yoon, Chung Yong Kim, Myoung Hee Park, Lyoung Hyo Kim, Byung Lae Park, and Hyoung Doo Shin

Association of TNF- promoter polymorphisms with the clearance of hepatitis B virus infection
Human Molecular Genetics Advance Access published on August 5, 2003
Hum. Mol. Genet. 2003 12: 2541-2546; doi:10.1093/hmg/ddg262 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Li-Yuan Chen, Jeng-Jer Shieh, Baochuan Lin, Chi-Jiunn Pan, Ji-Liang Gao, Philip M. Murphy, Thomas F. Roe, Shimon Moses, Jerrold M. Ward, Eric J. Lee, Heiner Westphal, Brian C. Mansfield, and Janice Yang Chou

Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporter
Human Molecular Genetics Advance Access published on August 12, 2003
Hum. Mol. Genet. 2003 12: 2547-2558; doi:10.1093/hmg/ddg263 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R. Scott Hansen

X inactivation-specific methylation of LINE-1 elements by DNMT3B: implications for the Lyon repeat hypothesis
Human Molecular Genetics Advance Access published on August 12, 2003
Hum. Mol. Genet. 2003 12: 2559-2567; doi:10.1093/hmg/ddg268 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

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