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Contents: Volume 16, Number 8, 15 April 2007   [Index by Author] 

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To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.

ARTICLES Back

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]  

Mateusz Kolanczyk, Nadine Kossler, Jirko Kühnisch, Liron Lavitas, Sigmar Stricker, Ulrich Wilkening, Inderchand Manjubala, Peter Fratzl, Ralf Spörle, Bernhard G. Herrmann, Luis F. Parada, Uwe Kornak, and Stefan Mundlos
Multiple roles for neurofibromin in skeletal development and growth
Human Molecular Genetics Advance Access published on February 22, 2007
Hum. Mol. Genet. 2007 16: 874-886; doi:10.1093/hmg/ddm032 [Abstract] [FREE Full Text] [PDF]   OPEN ACCESS ARTICLE  

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]  

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]  

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]  

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]  

Yuxi Shan, Eleonora Napoli, and Gino Cortopassi
Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones
Human Molecular Genetics Advance Access published on March 1, 2007
Hum. Mol. Genet. 2007 16: 929-941; doi:10.1093/hmg/ddm038 [Abstract] [FREE Full Text] [PDF]   OPEN ACCESS ARTICLE  

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]  

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 {alpha}-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]  

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]  

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]  

Sarika Srivastava, John N. Barrett, and Carlos T. Moraes
PGC-1{alpha}/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 Back

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]  

To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.