Human Molecular Genetics

ARTICLES

Get checked abstract Andrew Grupe, Richard Abraham, Yonghong Li, Charles Rowland, Paul Hollingworth, Angharad Morgan, Luke Jehu, Ricardo Segurado, David Stone, Eric Schadt, Maha Karnoub, Petra Nowotny, Kristina Tacey, Joseph Catanese, John Sninsky, Carol Brayne, David Rubinsztein, Michael Gill, Brian Lawlor, Simon Lovestone, Peter Holmans, Michael O'Donovan, John C. Morris, Leon Thal, Alison Goate, Michael J. Owen, and Julie Williams

Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants
Human Molecular Genetics Advance Access published on February 22, 2007
Hum. Mol. Genet. 2007 16: 865-873; doi:10.1093/hmg/ddm031 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Andrea Baessler, Marcus Fischer, Bjoern Mayer, Martina Koehler, Silke Wiedmann, Klaus Stark, Angela Doering, Jeanette Erdmann, Guenter Riegger, Heribert Schunkert, Anne E. Kwitek, and Christian Hengstenberg

Epistatic interaction between haplotypes of the ghrelin ligand and receptor genes influence susceptibility to myocardial infarction and coronary artery disease
Human Molecular Genetics Advance Access published on February 26, 2007
Hum. Mol. Genet. 2007 16: 887-899; doi:10.1093/hmg/ddm033 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Saïd Bendahhou, Emmanuel Fournier, Serge Gallet, Dominique Ménard, Marie-Madeleine Larroque, and Jacques Barhanin

Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred
Human Molecular Genetics Advance Access published on February 26, 2007
Hum. Mol. Genet. 2007 16: 900-906; doi:10.1093/hmg/ddm034 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Pat Whiteman, Antony C. Willis, Andrew Warner, James Brown, Christina Redfield, and Penny A. Handford

Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12–13 region of fibrillin-1
Human Molecular Genetics Advance Access published on February 26, 2007
Hum. Mol. Genet. 2007 16: 907-918; doi:10.1093/hmg/ddm035 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Conrad C. Weihl, Sara E. Miller, Phyllis I. Hanson, and Alan Pestronk

Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice
Human Molecular Genetics Advance Access published on February 28, 2007
Hum. Mol. Genet. 2007 16: 919-928; doi:10.1093/hmg/ddm037 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Jun-ya Kaimori, Yasuyuki Nagasawa, Luis F. Menezes, Miguel A. Garcia-Gonzalez, Jie Deng, Enyu Imai, Luiz F. Onuchic, Lisa M. Guay-Woodford, and Gregory G. Germino

Polyductin undergoes notch-like processing and regulated release from primary cilia
Hum. Mol. Genet. 2007 16: 942-956; doi:10.1093/hmg/ddm039 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Ying Sun, David P. Witte, Matt Zamzow, Huimin Ran, Brian Quinn, Junko Matsuda, and Gregory A. Grabowski

Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and -hydroxy ceramide accumulation, and altered prosaposin trafficking
Human Molecular Genetics Advance Access published on March 12, 2007
Hum. Mol. Genet. 2007 16: 957-971; doi:10.1093/hmg/ddm040 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Elizabeth M. Valleley, Sarah F. Cordery, and David T. Bonthron

Tissue-specific imprinting of the ZAC/PLAGL1 tumour suppressor gene results from variable utilization of monoallelic and biallelic promoters
Human Molecular Genetics Advance Access published on March 6, 2007
Hum. Mol. Genet. 2007 16: 972-981; doi:10.1093/hmg/ddm041 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Marie Monet, Valérie Domenga, Barbara Lemaire, Céline Souilhol, Francina Langa, Charles Babinet, Thomas Gridley, Elisabeth Tournier-Lasserve, Michel Cohen-Tannoudji, and Anne Joutel

The archetypal R90C CADASIL–NOTCH3 mutation retains NOTCH3 function in vivo
Human Molecular Genetics Advance Access published on March 1, 2007
Hum. Mol. Genet. 2007 16: 982-992; doi:10.1093/hmg/ddm042 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Sarika Srivastava, John N. Barrett, and Carlos T. Moraes

PGC-1/ß upregulation is associated with improved oxidative phosphorylation in cells harboring nonsense mtDNA mutations
Human Molecular Genetics Advance Access published on March 6, 2007
Hum. Mol. Genet. 2007 16: 993-1005; doi:10.1093/hmg/ddm045 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

RETRACTION

I. Kramerova, E. Kudryashova, G. Venkatraman, and M.J. Spencer

Calpain 3 participates in sarcomere remodeling by acting upstream of the ubiquitin-proteasome pathway
Hum. Mol. Genet. 2007 16: 1006; doi:10.1093/hmg/ddm044 [Extract] [Full Text] [PDF] [Request Permissions]  

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