Human Molecular Genetics

ARTICLES:

Ryosuke Kimura, Tomoki Nishioka, Augustinus Soemantri, and Takafumi Ishida

Allele-specific transcript quantification detects haplotypic variation in the levels of the SDF-1 transcripts
Human Molecular Genetics Advance Access published on April 20, 2005
Hum. Mol. Genet. 2005 14: 1579-1585; doi:10.1093/hmg/ddi166 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Qiang Li, Nicolás Montalbetti, Patrick Y. Shen, Xiao-Qing Dai, Christopher I. Cheeseman, Edward Karpinski, Guanqing Wu, Horacio F. Cantiello, and Xing-Zhen Chen

Alpha-actinin associates with polycystin-2 and regulates its channel activity
Human Molecular Genetics Advance Access published on April 20, 2005
Hum. Mol. Genet. 2005 14: 1587-1603; doi:10.1093/hmg/ddi167 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Wenqin Feng, Amelie K. Gubitz, Lili Wan, Daniel J. Battle, Josée Dostie, Tracey J. Golembe, and Gideon Dreyfuss

Gemins modulate the expression and activity of the SMN complex
Human Molecular Genetics Advance Access published on April 20, 2005
Hum. Mol. Genet. 2005 14: 1605-1611; doi:10.1093/hmg/ddi168 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kristen R. Senechal, Christina Thaller, and Jeffrey L. Noebels

ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy
Human Molecular Genetics Advance Access published on April 27, 2005
Hum. Mol. Genet. 2005 14: 1613-1620; doi:10.1093/hmg/ddi169 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Deborah French, Mark R. Wilkinson, Wenjian Yang, Luc de Chaisemartin, Edwin H. Cook, Soma Das, Mark J. Ratain, William E. Evans, James R. Downing, Ching-Hon Pui, and Mary V. Relling

Global gene expression as a function of germline genetic variation
Human Molecular Genetics Advance Access published on April 27, 2005
Hum. Mol. Genet. 2005 14: 1621-1629; doi:10.1093/hmg/ddi170 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Joseph F. Arboleda-Velasquez, Raajit Rampal, Erik Fung, Diane C. Darland, Min Liu, Maria C. Martinez, Christine P. Donahue, Manuel F. Navarro-Gonzalez, Peter Libby, Patricia A. D'Amore, Masanori Aikawa, Robert S. Haltiwanger, and Kenneth S. Kosik

CADASIL mutations impair Notch3 glycosylation by Fringe
Human Molecular Genetics Advance Access published on April 27, 2005
Hum. Mol. Genet. 2005 14: 1631-1639; doi:10.1093/hmg/ddi171 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Yukihide Maeda, Kunihiro Fukushima, Kazunori Nishizaki, and Richard J.H. Smith

In vitro and in vivo suppression of GJB2 expression by RNA interference
Human Molecular Genetics Advance Access published on April 27, 2005
Hum. Mol. Genet. 2005 14: 1641-1650; doi:10.1093/hmg/ddi172 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Tina Hummelshoj, Lea Munthe-Fog, Hans O. Madsen, Teizo Fujita, Misao Matsushita, and Peter Garred

Polymorphisms in the FCN2 gene determine serum variation and function of Ficolin-2
Human Molecular Genetics Advance Access published on May 6, 2005
Hum. Mol. Genet. 2005 14: 1651-1658; doi:10.1093/hmg/ddi173 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Serena Carra, Mitchel Sivilotti, Aura T. Chávez Zobel, Herman Lambert, and Jacques Landry

HspB8, a small heat shock protein mutated in human neuromuscular disorders, has in vivo chaperone activity in cultured cells
Human Molecular Genetics Advance Access published on May 6, 2005
Hum. Mol. Genet. 2005 14: 1659-1669; doi:10.1093/hmg/ddi174 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kelan G. Tantisira, Kersten M. Small, Augusto A. Litonjua, Scott T. Weiss, and Stephen B. Liggett

Molecular properties and pharmacogenetics of a polymorphism of adenylyl cyclase type 9 in asthma: interaction between ß-agonist and corticosteroid pathways
Human Molecular Genetics Advance Access published on May 6, 2005
Hum. Mol. Genet. 2005 14: 1671-1677; doi:10.1093/hmg/ddi175 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Svetlana Pidasheva, Lucie Canaff, William F. Simonds, Stephen J. Marx, and Geoffrey N. Hendy

Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia
Human Molecular Genetics Advance Access published on May 6, 2005
Hum. Mol. Genet. 2005 14: 1679-1690; doi:10.1093/hmg/ddi176 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jennie Z. Ma, Joke Beuten, Thomas J. Payne, Randolph T. Dupont, Robert C. Elston, and Ming D. Li

Haplotype analysis indicates an association between the DOPA decarboxylase (DDC) gene and nicotine dependence
Human Molecular Genetics Advance Access published on May 6, 2005
Hum. Mol. Genet. 2005 14: 1691-1698; doi:10.1093/hmg/ddi177 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Laura Erker, Ralf Schubert, Hiroyuki Yakushiji, Carrolee Barlow, Denise Larson, James B. Mitchell, and Anthony Wynshaw-Boris

Cancer chemoprevention by the antioxidant tempol acts partially via the p53 tumor suppressor
Human Molecular Genetics Advance Access published on May 11, 2005
Hum. Mol. Genet. 2005 14: 1699-1708; doi:10.1093/hmg/ddi181 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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