Human Molecular Genetics

ARTICLES:

Lisa Skipper, Yi Li, Carine Bonnard, Ratnagopal Pavanni, Yuen Yih, Eva Chua, Wing-Kin Sung, Louis Tan, Meng-Cheong Wong, Eng-King Tan, and Jianjun Liu

Comprehensive evaluation of common genetic variation within LRRK2 reveals evidence for association with sporadic Parkinson's disease
Human Molecular Genetics Advance Access published on November 3, 2005
Hum. Mol. Genet. 2005 14: 3549-3556; doi:10.1093/hmg/ddi376 [Abstract] [Full Text] [PDF] [Request Permissions]  

Lara Moumné, Marc Fellous, and Reiner A. Veitia

Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation
Human Molecular Genetics Advance Access published on October 11, 2005
Hum. Mol. Genet. 2005 14: 3557-3564; doi:10.1093/hmg/ddi383 [Abstract] [Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Isidre Ferrer, Josef P. Kapfhammer, Colette Hindelang, Stephan Kemp, Nathalie Troffer-Charlier, Vania Broccoli, Noëlle Callyzot, Petra Mooyer, Jacqueline Selhorst, Peter Vreken, Ronald J.A. Wanders, Jean Louis Mandel, and Aurora Pujol

Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage
Human Molecular Genetics Advance Access published on October 13, 2005
Hum. Mol. Genet. 2005 14: 3565-3577; doi:10.1093/hmg/ddi384 [Abstract] [Full Text] [PDF] [Request Permissions]  

Kevin P. Langton, Norman McKie, Brenda M. Smith, Nicola J. Brown, and Michael D. Barker

Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells
Human Molecular Genetics Advance Access published on October 13, 2005
Hum. Mol. Genet. 2005 14: 3579-3586; doi:10.1093/hmg/ddi385 [Abstract] [Full Text] [PDF] [Request Permissions]  

Kathryn M. Meurs, Ximena Sanchez, Ryan M. David, Neil E. Bowles, Jeffrey A. Towbin, Peter J. Reiser, Judith A. Kittleson, Marcia J. Munro, Keith Dryburgh, Kristin A. MacDonald, and Mark D. Kittleson

A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy
Human Molecular Genetics Advance Access published on October 19, 2005
Hum. Mol. Genet. 2005 14: 3587-3593; doi:10.1093/hmg/ddi386 [Abstract] [Full Text] [PDF] [Request Permissions]  

Robert R. Freimuth, Ming Xiao, Sharon Marsh, Matthew Minton, Nicholas Addleman, Derek J. Van Booven, Howard L. McLeod, and Pui-Yan Kwok

Polymorphism discovery in 51 chemotherapy pathway genes
Human Molecular Genetics Advance Access published on October 20, 2005
Hum. Mol. Genet. 2005 14: 3595-3603; doi:10.1093/hmg/ddi387 [Abstract] [Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Ralf Kist, Michelle Watson, Xiaomeng Wang, Paul Cairns, Colin Miles, Donald J. Reid, and Heiko Peters

Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia
Human Molecular Genetics Advance Access published on October 19, 2005
Hum. Mol. Genet. 2005 14: 3605-3617; doi:10.1093/hmg/ddi388 [Abstract] [Full Text] [PDF] [Request Permissions]  

Zheng Tan, Andrew Minsoo Shon, and Carole Ober

Evidence of balancing selection at the HLA-G promoter region
Human Molecular Genetics Advance Access published on October 19, 2005
Hum. Mol. Genet. 2005 14: 3619-3628; doi:10.1093/hmg/ddi389 [Abstract] [Full Text] [PDF] [Request Permissions]  

Francesca Gabanella, Claudia Carissimi, Alessandro Usiello, and Livio Pellizzoni

The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation
Human Molecular Genetics Advance Access published on October 19, 2005
Hum. Mol. Genet. 2005 14: 3629-3642; doi:10.1093/hmg/ddi390 [Abstract] [Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Hong Lin, Jinbin Zhai, and William W. Schlaepfer

RNA-binding protein is involved in aggregation of light neurofilament protein and is implicated in the pathogenesis of motor neuron degeneration
Human Molecular Genetics Advance Access published on October 19, 2005
Hum. Mol. Genet. 2005 14: 3643-3659; doi:10.1093/hmg/ddi392 [Abstract] [Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Dolores Garcia Arocena, Christine K. Iwahashi, Nelly Won, Alexandra Beilina, Anna L. Ludwig, Flora Tassone, Philip H. Schwartz, and Paul J. Hagerman

Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells
Human Molecular Genetics Advance Access published on October 20, 2005
Hum. Mol. Genet. 2005 14: 3661-3671; doi:10.1093/hmg/ddi394 [Abstract] [Full Text] [PDF] [Request Permissions]  

Qishan Wang, Dick D. Mosser, and Jnanankur Bag

Induction of HSP70 expression and recruitment of HSC70 and HSP70 in the nucleus reduce aggregation of a polyalanine expansion mutant of PABPN1 in HeLa cells
Human Molecular Genetics Advance Access published on October 20, 2005
Hum. Mol. Genet. 2005 14: 3673-3684; doi:10.1093/hmg/ddi395 [Abstract] [Full Text] [PDF] [Request Permissions]  

Sonja Bonneick, Matthias Boentert, Philipp Berger, Suzana Atanasoski, Ned Mantei, Carsten Wessig, Klaus V. Toyka, Peter Young, and Ueli Suter

An animal model for Charcot–Marie–Tooth disease type 4B1
Human Molecular Genetics Advance Access published on October 25, 2005
Hum. Mol. Genet. 2005 14: 3685-3695; doi:10.1093/hmg/ddi400 [Abstract] [Full Text] [PDF] [Request Permissions]  

Delphine Trochet, Seok Jong Hong, Jin Kyu Lim, Jean-François Brunet, Arnold Munnich, Kwang-Soo Kim, Stanislas Lyonnet, Christo Goridis, and Jeanne Amiel

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction
Human Molecular Genetics Advance Access published on October 25, 2005
Hum. Mol. Genet. 2005 14: 3697-3708; doi:10.1093/hmg/ddi401 [Abstract] [Full Text] [PDF] [Request Permissions]  

Megumi Adachi, Edward W. Keefer, and Frederick S. Jones

A segment of the Mecp2 promoter is sufficient to drive expression in neurons
Human Molecular Genetics Advance Access published on October 26, 2005
Hum. Mol. Genet. 2005 14: 3709-3722; doi:10.1093/hmg/ddi402 [Abstract] [Full Text] [PDF] [Request Permissions]  

Pia Hermanns, Alison A. Bertuch, Terry K. Bertin, Brian Dawson, Mark E. Schmitt, Chad Shaw, Bernhard Zabel, and Brendan Lee

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia
Human Molecular Genetics Advance Access published on October 27, 2005
Hum. Mol. Genet. 2005 14: 3723-3740; doi:10.1093/hmg/ddi403 [Abstract] [Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Samuel Deutsch, Robert Lyle, Emmanouil T. Dermitzakis, Homa Attar, Lakshman Subrahmanyan, Corinne Gehrig, Leila Parand, Maryline Gagnebin, Jacques Rougemont, C. Victor Jongeneel, and Stylianos E. Antonarakis

Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes
Human Molecular Genetics Advance Access published on October 26, 2005
Hum. Mol. Genet. 2005 14: 3741-3749; doi:10.1093/hmg/ddi404 [Abstract] [Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Aurore Morlon, Arnold Munnich, and Asma Smahi

TAB2, TRAF6 and TAK1 are involved in NF-B activation induced by the TNF-receptor, Edar and its adaptator Edaradd
Human Molecular Genetics Advance Access published on October 26, 2005
Hum. Mol. Genet. 2005 14: 3751-3757; doi:10.1093/hmg/ddi405 [Abstract] [Full Text] [PDF] [Request Permissions]  

Denia Ramirez-Montealegre and David A. Pearce

Defective lysosomal arginine transport in juvenile Batten disease
Human Molecular Genetics Advance Access published on October 26, 2005
Hum. Mol. Genet. 2005 14: 3759-3773; doi:10.1093/hmg/ddi406 [Abstract] [Full Text] [PDF] [Request Permissions]  

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