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Previous 		Contents: Volume 17, Number 18, 15 September 2008   [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

Christian Geier, Katja Gehmlich, Elisabeth Ehler, Sabine Hassfeld, Andreas Perrot, Katrin Hayess, Nuno Cardim, Katrin Wenzel, Bettina Erdmann, Florian Krackhardt, Maximilian G. Posch, Angelika Bublak, Herbert Nägele, Thomas Scheffold, Rainer Dietz, Kenneth R. Chien, Simone Spuler, Dieter O. Fürst, Peter Nürnberg, and Cemil Özcelik
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy
Human Molecular Genetics Advance Access published on May 27, 2008
Hum. Mol. Genet. 2008 17: 2753-2765; doi:10.1093/hmg/ddn160 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Alain Couvineau, Vinciane Wouters, Guylène Bertrand, Christiane Rouyer, Bénédicte Gérard, Laurence M. Boon, Bernard Grandchamp, Miikka Vikkula, and Caroline Silve
PTHR1 mutations associated with Ollier disease result in receptor loss of function
Human Molecular Genetics Advance Access published on June 17, 2008
Hum. Mol. Genet. 2008 17: 2766-2775; doi:10.1093/hmg/ddn176 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Shiran Yehezkel, Yardena Segev, Evani Viegas-Péquignot, Karl Skorecki, and Sara Selig
Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions
Human Molecular Genetics Advance Access published on June 16, 2008
Hum. Mol. Genet. 2008 17: 2776-2789; doi:10.1093/hmg/ddn177 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Françoise Auchère, Renata Santos, Sara Planamente, Emmanuel Lesuisse, and Jean-Michel Camadro
Glutathione-dependent redox status of frataxin-deficient cells in a yeast model of Friedreich's ataxia
Human Molecular Genetics Advance Access published on June 18, 2008
Hum. Mol. Genet. 2008 17: 2790-2802; doi:10.1093/hmg/ddn178 [Abstract] [Full Text] [PDF] [Request Permissions]  

Ingrid Ehrmann, Caroline Dalgliesh, Aikaterini Tsaousi, Maria Paola Paronetto, Bettina Heinrich, Ralf Kist, Paul Cairns, Weiping Li, Christian Mueller, Michael Jackson, Heiko Peters, Karim Nayernia, Philippa Saunders, Michael Mitchell, Stefan Stamm, Claudio Sette, and David J. Elliott
Haploinsufficiency of the germ cell-specific nuclear RNA binding protein hnRNP G-T prevents functional spermatogenesis in the mouse
Human Molecular Genetics Advance Access published on June 18, 2008
Hum. Mol. Genet. 2008 17: 2803-2818; doi:10.1093/hmg/ddn179 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Lorenzo Battini, Salvador Macip, Elena Fedorova, Steven Dikman, Stefan Somlo, Cristina Montagna, and G. Luca Gusella
Loss of polycystin-1 causes centrosome amplification and genomic instability
Human Molecular Genetics Advance Access published on June 19, 2008
Hum. Mol. Genet. 2008 17: 2819-2833; doi:10.1093/hmg/ddn180 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

David V. Conti, Won Lee, Dalin Li, Jinghua Liu, David Van Den Berg, Paul D. Thomas, Andrew W. Bergen, Gary E. Swan, Rachel F. Tyndale, Neal L. Benowitz, and Caryn Lerman for the Pharmacogenetics of Nicotine Addiction and Treatment Consortium
Nicotinic acetylcholine receptor β2 subunit gene implicated in a systems-based candidate gene study of smoking cessation
Human Molecular Genetics Advance Access published on July 1, 2008
Hum. Mol. Genet. 2008 17: 2834-2848; doi:10.1093/hmg/ddn181 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

Eva Teuling, Vera van Dis, Phebe S. Wulf, Elize D. Haasdijk, Anna Akhmanova, Casper C. Hoogenraad, and Dick Jaarsma
A novel mouse model with impaired dynein/dynactin function develops amyotrophic lateral sclerosis (ALS)-like features in motor neurons and improves lifespan in SOD1-ALS mice
Human Molecular Genetics Advance Access published on June 25, 2008
Hum. Mol. Genet. 2008 17: 2849-2862; doi:10.1093/hmg/ddn182 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Julien Chapuis, Frédéric Moisan, Georges Mellick, Alexis Elbaz, Peter Silburn, Florence Pasquier, Didier Hannequin, Corinne Lendon, Dominique Campion, Philippe Amouyel, and Jean-Charles Lambert
Association study of the NEDD9 gene with the risk of developing Alzheimer's and Parkinson's disease
Human Molecular Genetics Advance Access published on June 25, 2008
Hum. Mol. Genet. 2008 17: 2863-2867; doi:10.1093/hmg/ddn183 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Snaevar Sigurdsson, Gunnel Nordmark, Sophie Garnier, Elin Grundberg, Tony Kwan, Olof Nilsson, Maija-Leena Eloranta, Iva Gunnarsson, Elisabet Svenungsson, Gunnar Sturfelt, Anders A. Bengtsson, Andreas Jönsen, Lennart Truedsson, Solbritt Rantapää-Dahlqvist, Catharina Eriksson, Gunnar Alm, Harald H.H. Göring, Tomi Pastinen, Ann-Christine Syvänen, and Lars Rönnblom
A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5
Human Molecular Genetics Advance Access published on June 25, 2008
Hum. Mol. Genet. 2008 17: 2868-2876; doi:10.1093/hmg/ddn184 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

Glenn P. Lobo, Kristin A. Waite, Sarah M. Planchon, Todd Romigh, Janet A. Houghton, and Charis Eng
ATP modulates PTEN subcellular localization in multiple cancer cell lines
Human Molecular Genetics Advance Access published on June 25, 2008
Hum. Mol. Genet. 2008 17: 2877-2885; doi:10.1093/hmg/ddn185 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

Kim L. McBride, Maurisa F. Riley, Gloria A. Zender, Sara M. Fitzgerald-Butt, Jeffrey A. Towbin, John W. Belmont, and Susan E. Cole
NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling
Human Molecular Genetics Advance Access published on June 30, 2008
Hum. Mol. Genet. 2008 17: 2886-2893; doi:10.1093/hmg/ddn187 [Abstract] [Full Text] [PDF] [Request Permissions]  

Jian Wang, Matthew R. Ban, Guang Yong Zou, Henian Cao, Tim Lin, Brooke A. Kennedy, Sonia Anand, Salim Yusuf, Murray W. Huff, Rebecca L. Pollex, and Robert A. Hegele
Polygenic determinants of severe hypertriglyceridemia
Human Molecular Genetics Advance Access published on July 1, 2008
Hum. Mol. Genet. 2008 17: 2894-2899; doi:10.1093/hmg/ddn188 [Abstract] [Full Text] [PDF] [Request Permissions]  

Vicki L. McGovern, Tatiana O. Gavrilina, Christine E. Beattie, and Arthur H.M. Burghes
Embryonic motor axon development in the severe SMA mouse
Human Molecular Genetics Advance Access published on July 3, 2008
Hum. Mol. Genet. 2008 17: 2900-2909; doi:10.1093/hmg/ddn189 [Abstract] [Full Text] [PDF] [Request Permissions]  

William A. Scaringe, Kai Li, Dongqing Gu, Kelly D. Gonzalez, Zhenbin Chen, Kathleen A. Hill, and Steve S. Sommer
Somatic microindels in human cancer: the insertions are highly error-prone and derive from nearby but not adjacent sense and antisense templates
Human Molecular Genetics Advance Access published on July 15, 2008
Hum. Mol. Genet. 2008 17: 2910-2918; doi:10.1093/hmg/ddn190 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

CORRIGENDUM Back

Dianna C. Martin, Vasantha Atmuri, Richard J. Hemming, Judith Farley, John S. Mort, Sharon Byers, Sabine Hombach-Klonisch, Antonei B. Csoka, Robert Stern, and Barbara L. Triggs-Raine
A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis
Human Molecular Genetics Advance Access published on July 24, 2008
Hum. Mol. Genet. 2008 17: 2919; doi:10.1093/hmg/ddn207 [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.