Human Molecular Genetics

ARTICLES:

Melissa A. Fath, Robert F. Mullins, Charles Searby, Darryl Y. Nishimura, Jun Wei, Kamal Rahmouni, Roger E. Davis, Marwan K. Tayeh, Michael Andrews, Baoli Yang, Curt D. Sigmund, Edwin M. Stone, and Val C. Sheffield

Mkks-null mice have a phenotype resembling Bardet–Biedl syndrome
Human Molecular Genetics Advance Access published on March 16, 2005
Hum. Mol. Genet. 2005 14: 1109-1118; doi:10.1093/hmg/ddi123 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hongqiang Li, Lu Lu, Kenneth F. Manly, Elissa J. Chesler, Lei Bao, Jintao Wang, Mi Zhou, Robert W. Williams, and Yan Cui

Inferring gene transcriptional modulatory relations: a genetical genomics approach
Human Molecular Genetics Advance Access published on March 16, 2005
Hum. Mol. Genet. 2005 14: 1119-1125; doi:10.1093/hmg/ddi124 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Iris Oezen, Walter Rossmanith, Sonja Forss-Petter, Stephan Kemp, Till Voigtländer, Karin Moser-Thier, Ronald J. Wanders, Reginald E. Bittner, and Johannes Berger

Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency
Human Molecular Genetics Advance Access published on March 16, 2005
Hum. Mol. Genet. 2005 14: 1127-1137; doi:10.1093/hmg/ddi125 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ulrich Matzner, Eva Herbst, Kerstin Khalaj Hedayati, Renate Lüllmann-Rauch, Carsten Wessig, Stephan Schröder, Carl Eistrup, Christer Möller, Jens Fogh, and Volkmar Gieselmann

Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy
Human Molecular Genetics Advance Access published on March 16, 2005
Hum. Mol. Genet. 2005 14: 1139-1152; doi:10.1093/hmg/ddi126 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Armelle Logié, Claire Dunois-Lardé, Christophe Rosty, Olivier Levrel, Martine Blanche, Agnès Ribeiro, Jean-Marie Gasc, Jose Jorcano, Sabine Werner, Xavier Sastre-Garau, Jean Paul Thiery, and François Radvanyi

Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans
Human Molecular Genetics Advance Access published on March 16, 2005
Hum. Mol. Genet. 2005 14: 1153-1160; doi:10.1093/hmg/ddi127 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Xi-Ming Sun, Emily R. Eden, Isabella Tosi, Clare K. Neuwirth, David Wile, Rossi P. Naoumova, and Anne K. Soutar

Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia
Human Molecular Genetics Advance Access published on March 16, 2005
Hum. Mol. Genet. 2005 14: 1161-1169; doi:10.1093/hmg/ddi128 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Lauren E. Kernochan, Melissa L. Russo, Nathaniel S. Woodling, Thanh N. Huynh, Amy M. Avila, Kenneth H. Fischbeck, and Charlotte J. Sumner

The role of histone acetylation in SMN gene expression
Human Molecular Genetics Advance Access published on March 16, 2005
Hum. Mol. Genet. 2005 14: 1171-1182; doi:10.1093/hmg/ddi130 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

X. Shu, A.M. Fry, B. Tulloch, F.D.C. Manson, J.W. Crabb, H. Khanna, A.J. Faragher, A. Lennon, S. He, P. Trojan, A. Giessl, U. Wolfrum, R. Vervoort, A. Swaroop, and A.F. Wright

RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin
Human Molecular Genetics Advance Access published on March 16, 2005
Hum. Mol. Genet. 2005 14: 1183-1197; doi:10.1093/hmg/ddi129 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Elizabeth C. Wolstencroft, Virginia Mattis, Anna A. Bajer, Philip J. Young, and Christian L. Lorson

A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels
Human Molecular Genetics Advance Access published on March 24, 2005
Hum. Mol. Genet. 2005 14: 1199-1210; doi:10.1093/hmg/ddi131 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ming D. Li, Joke Beuten, Jennie Z. Ma, Thomas J. Payne, Xiang-Yang Lou, Veronica Garcia, Aristeo S. Duenes, Karen M. Crews, and Robert C. Elston

Ethnic- and gender-specific association of the nicotinic acetylcholine receptor 4 subunit gene (CHRNA4) with nicotine dependence
Human Molecular Genetics Advance Access published on March 24, 2005
Hum. Mol. Genet. 2005 14: 1211-1219; doi:10.1093/hmg/ddi132 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Yangjun Qin and Colin E. Bishop

Sox9 is sufficient for functional testis development producing fertile male mice in the absence of Sry
Human Molecular Genetics Advance Access published on March 24, 2005
Hum. Mol. Genet. 2005 14: 1221-1229; doi:10.1093/hmg/ddi133 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jin Xu, Nan Zhong, Haoyong Wang, Joshua E. Elias, Christina Y. Kim, Irina Woldman, Christian Pifl, Steven P. Gygi, Changiz Geula, and Bruce A. Yankner

The Parkinson's disease-associated DJ-1 protein is a transcriptional co-activator that protects against neuronal apoptosis
Human Molecular Genetics Advance Access published on March 24, 2005
Hum. Mol. Genet. 2005 14: 1231-1241; doi:10.1093/hmg/ddi134 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

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