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Previous Next 		Contents: Volume 17, Number 2, 15 January 2008   [Index by Author] 

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ARTICLES Back

Lut Van Laer, Els Van Eyken, Erik Fransen, Jeroen R. Huyghe, Vedat Topsakal, Jan-Jaap Hendrickx, Samuli Hannula, Elina Mäki-Torkko, Mona Jensen, Kelly Demeester, Manuela Baur, Amanda Bonaconsa, Manuela Mazzoli, Angeles Espeso, Katia Verbruggen, Joke Huyghe, Patrick Huygen, Sylvia Kunst, Minna Manninen, Annelies Konings, Amalia N. Diaz-Lacava, Michael Steffens, Thomas F. Wienker, Ilmari Pyykkö, Cor W.R.J. Cremers, Hannie Kremer, Ingeborg Dhooge, Dafydd Stephens, Eva Orzan, Markus Pfister, Michael Bille, Agnete Parving, Martti Sorri, Paul H. Van de Heyning, and Guy Van Camp
The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment
Human Molecular Genetics Advance Access published on October 6, 2007
Hum. Mol. Genet. 2008 17: 159-169; doi:10.1093/hmg/ddm292 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Sovan Sarkar, Gauri Krishna, Sara Imarisio, Shinji Saiki, Cahir J. O'Kane, and David C. Rubinsztein
A rational mechanism for combination treatment of Huntington's disease using lithium and rapamycin
Human Molecular Genetics Advance Access published on October 6, 2007
Hum. Mol. Genet. 2008 17: 170-178; doi:10.1093/hmg/ddm294 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

Andrew J. Birley, Michael R. James, Peter A. Dickson, Grant W. Montgomery, Andrew C. Heath, John B. Whitfield, and Nicholas G. Martin
Association of the gastric alcohol dehydrogenase gene ADH7 with variation in alcohol metabolism
Human Molecular Genetics Advance Access published on October 6, 2007
Hum. Mol. Genet. 2008 17: 179-189; doi:10.1093/hmg/ddm295 [Abstract] [Full Text] [PDF] [Request Permissions]  

Malgorzata Zatyka, Christopher Ricketts, Gabriela da Silva Xavier, Jayne Minton, Sarah Fenton, Sabine Hofmann-Thiel, Guy A Rutter, and Timothy G. Barrett
Sodium-potassium ATPase β1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress
Human Molecular Genetics Advance Access published on October 18, 2007
Hum. Mol. Genet. 2008 17: 190-200; doi:10.1093/hmg/ddm296 [Abstract] [Full Text] [PDF] [Request Permissions]  

Kai Stefan Dimmer, Francesca Navoni, Alberto Casarin, Eva Trevisson, Sabine Endele, Andreas Winterpacht, Leonardo Salviati, and Luca Scorrano
LETM1, deleted in Wolf–Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability
Human Molecular Genetics Advance Access published on October 9, 2007
Hum. Mol. Genet. 2008 17: 201-214; doi:10.1093/hmg/ddm297 [Abstract] [Full Text] [PDF] [Request Permissions]  

Magali Venoux, Jihane Basbous, Cyril Berthenet, Claude Prigent, Anne Fernandez, Ned J. Lamb, and Sylvie Rouquier
ASAP is a novel substrate of the oncogenic mitotic kinase Aurora-A: phosphorylation on Ser625 is essential to spindle formation and mitosis
Human Molecular Genetics Advance Access published on October 9, 2007
Hum. Mol. Genet. 2008 17: 215-224; doi:10.1093/hmg/ddm298 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Juana Maria Gonzalez-Santos, Huibi Cao, Rongqi Cathleen Duan, and Jim Hu
Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex
Human Molecular Genetics Advance Access published on October 11, 2007
Hum. Mol. Genet. 2008 17: 225-239; doi:10.1093/hmg/ddm300 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Swasti Raychaudhuri, Mithun Sinha, Debashis Mukhopadhyay, and Nitai P. Bhattacharyya
HYPK, a Huntingtin interacting protein, reduces aggregates and apoptosis induced by N-terminal Huntingtin with 40 glutamines in Neuro2a cells and exhibits chaperone-like activity
Human Molecular Genetics Advance Access published on October 18, 2007
Hum. Mol. Genet. 2008 17: 240-255; doi:10.1093/hmg/ddm301 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Hans Matsson, Jacqueline Eason, Carol S. Bookwalter, Joakim Klar, Peter Gustavsson, Jan Sunnegårdh, Henrik Enell, Anders Jonzon, Miikka Vikkula, Ilse Gutierrez, Javier Granados-Riveron, Mark Pope, Frances Bu’Lock, Jane Cox, Thelma E Robinson, Feifei Song, David J Brook, Steven Marston, Kathleen M. Trybus, and Niklas Dahl
Alpha-cardiac actin mutations produce atrial septal defects
Human Molecular Genetics Advance Access published on October 18, 2007
Hum. Mol. Genet. 2008 17: 256-265; doi:10.1093/hmg/ddm302 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

Andrea Chai, James Withers, Young Ho Koh, Katherine Parry, Hong Bao, Bing Zhang, Vivian Budnik, and Giuseppa Pennetta
hVAPB, the causative gene of a heterogeneous group of motor neuron diseases in humans, is functionally interchangeable with its Drosophila homologue DVAP-33A at the neuromuscular junction
Human Molecular Genetics Advance Access published on October 18, 2007
Hum. Mol. Genet. 2008 17: 266-280; doi:10.1093/hmg/ddm303 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Marijana Samardzija, Johannes von Lintig, Naoyuki Tanimoto, Vitus Oberhauser, Markus Thiersch, Charlotte E. Remé, Mathias Seeliger, Christian Grimm, and Andreas Wenzel
R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal
Human Molecular Genetics Advance Access published on October 12, 2007
Hum. Mol. Genet. 2008 17: 281-292; doi:10.1093/hmg/ddm304 [Abstract] [Full Text] [PDF] [Request Permissions]  

Atish Ganguly, R.M. Renny Feldman, and Ming Guo
ubiquilin antagonizes presenilin and promotes neurodegeneration in Drosophila
Human Molecular Genetics Advance Access published on October 18, 2007
Hum. Mol. Genet. 2008 17: 293-302; doi:10.1093/hmg/ddm305 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

Claudia Kitzmüller, Rebecca L. Haines, Sandra Codlin, Daniel F. Cutler, and Sara E. Mole
A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis
Human Molecular Genetics Advance Access published on October 18, 2007
Hum. Mol. Genet. 2008 17: 303-312; doi:10.1093/hmg/ddm306 [Abstract] [FREE Full Text] [PDF]   OPEN ACCESS ARTICLE  

Julie van der Zee, Hazel Urwin, Sebastiaan Engelborghs, Marc Bruyland, Rik Vandenberghe, Bart Dermaut, Tim De Pooter, Karin Peeters, Patrick Santens, Peter P. De Deyn, Elizabeth M. Fisher, John Collinge, Adrian M. Isaacs, and Christine Van Broeckhoven
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro
Human Molecular Genetics Advance Access published on October 22, 2007
Hum. Mol. Genet. 2008 17: 313-322; doi:10.1093/hmg/ddm309 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

Angels Natividad, Martin J. Holland, Kirk A. Rockett, Julian Forton, Nkoyo Faal, Hassan M. Joof, David C.W. Mabey, Robin L. Bailey, and Dominic P. Kwiatkowski
Susceptibility to sequelae of human ocular chlamydial infection associated with allelic variation in IL10 cis-regulation
Human Molecular Genetics Advance Access published on October 18, 2007
Hum. Mol. Genet. 2008 17: 323-329; doi:10.1093/hmg/ddm310 [Abstract] [Full Text] [PDF] [Supplementary Data] [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.