Human Molecular Genetics

REPORTS:

Neena B. Haider, Jürgen Naggert, and Patsy M. Nishina

Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice
Hum. Mol. Genet. 2001 10: 1619-1626; doi:10.1093/hmg/10.16.1619 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Vivek Anantharaman, Eugene V. Koonin, and L. Aravind

Peptide-N-glycanases and DNA repair proteins, Xp-C/Rad4, are, respectively, active and inactivated enzymes sharing a common transglutaminase fold
Hum. Mol. Genet. 2001 10: 1627-1630; doi:10.1093/hmg/10.16.1627 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Megan Priston, Kathy Kozlowski, Dan Gill, Ken Letwin, Yvonne Buys, Alex V. Levin, Mike A. Walter, and Elise Héon

Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld–Rieger syndrome
Hum. Mol. Genet. 2001 10: 1631-1638; doi:10.1093/hmg/10.16.1631 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hong Du, Susan Schiavi, Mark Levine, Jaya Mishra, Martin Heur, and Gregory A. Grabowski

Enzyme therapy for lysosomal acid lipase deficiency in the mouse
Hum. Mol. Genet. 2001 10: 1639-1648; doi:10.1093/hmg/10.16.1639 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Katja Hedrich, Martin Kann, Andrea J. Lanthaler, Andreas Dalski, Cordula Eskelson, Olfert Landt, Eberhard Schwinger, Peter Vieregge, Anthony E. Lang, Xandra O. Breakefield, Laurie J. Ozelius, Peter P. Pramstaller, and Christine Klein

The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism
Hum. Mol. Genet. 2001 10: 1649-1656; doi:10.1093/hmg/10.16.1649 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Malek Faham, Siamak Baharloo, Shinichiro Tomitaka, Joe DeYoung, and Nelson B. Freimer

Mismatch repair detection (MRD): high-throughput scanning for DNA variations
Hum. Mol. Genet. 2001 10: 1657-1664; doi:10.1093/hmg/10.16.1657 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Chris De Jonghe, Cary Esselens, Samir Kumar-Singh, Katleen Craessaerts, Sally Serneels, Frédéric Checler, Wim Annaert, Christine Van Broeckhoven, and Bart De Strooper

Pathogenic APP mutations near the -secretase cleavage site differentially affect Aß secretion and APP C-terminal fragment stability
Hum. Mol. Genet. 2001 10: 1665-1671; doi:10.1093/hmg/10.16.1665 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M. Helen Rajpar, Kathryn Harley, Chris Laing, Robin M. Davies, and Michael J. Dixon

Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta
Hum. Mol. Genet. 2001 10: 1673-1677; doi:10.1093/hmg/10.16.1673 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Gaël Yvert, Katrin S. Lindenberg, Didier Devys, Dominique Helmlinger, G. Bernhard Landwehrmeyer, and Jean-Louis Mandel

SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types
Hum. Mol. Genet. 2001 10: 1679-1692; doi:10.1093/hmg/10.16.1679 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C. J. M. Bontekoe, C. E. Bakker, I. M. Nieuwenhuizen, H. van der Linde, H. Lans, D. de Lange, M. C. Hirst, and B. A. Oostra

Instability of a (CGG)₉₈ repeat in the Fmr1 promoter
Hum. Mol. Genet. 2001 10: 1693-1699; doi:10.1093/hmg/10.16.1693 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Maarten Bastiaens, Jeanette ter Huurne, Nelleke Gruis, Wilma Bergman, Rudi Westendorp, Bert-Jan Vermeer, and Jan-Nico Bouwes Bavinck

The melanocortin-1-receptor gene is the major freckle gene
Hum. Mol. Genet. 2001 10: 1701-1708; doi:10.1093/hmg/10.16.1701 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kumar N. Alagramam, Huijun Yuan, Markus H. Kuehn, Crystal L. Murcia, Sigrid Wayne, C.R. Srikumari Srisailpathy, R. Brian Lowry, Russell Knaus, Lut Van Laer, F.P. Bernier, Stuart Schwartz, Charles Lee, Cynthia C. Morton, Robert F. Mullins, Arabandi Ramesh, Guy Van Camp, Gregory S. Hagemen, Richard P. Woychik, and Richard J.H. Smith

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
Hum. Mol. Genet. 2001 10: 1709-1718; doi:10.1093/hmg/10.16.1709 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Corrigendum
Hum. Mol. Genet. 2001 10: 1719; doi:10.1093/hmg/10.16.1719 [PDF] [Request Permissions]  

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