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Contents: Volume 16, Number 24, 15 December 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

Kristian Tersar, Matthias Boentert, Philipp Berger, Sonja Bonneick, Carsten Wessig, Klaus V. Toyka, Peter Young, and Ueli Suter
Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2
Human Molecular Genetics Advance Access published on September 12, 2007
Hum. Mol. Genet. 2007 16: 2991-3001; doi:10.1093/hmg/ddm257 [Abstract] [Full Text] [PDF] [Request Permissions]  

Jean Deguara, Kevin G. Burnand, Jonathan Berg, Peter Green, Cathryn M. Lewis, Ganesh Chinien, Matthew Waltham, Peter Taylor, Rachel F. Stern, Ellen Solomon, and Alberto Smith
An increased frequency of the 5A allele in the promoter region of the MMP3 gene is associated with abdominal aortic aneurysms
Human Molecular Genetics Advance Access published on September 17, 2007
Hum. Mol. Genet. 2007 16: 3002-3007; doi:10.1093/hmg/ddm258 [Abstract] [Full Text] [PDF] [Request Permissions]  

Vinciane Dideberg, Gudlaug Kristjansdottir, Lili Milani, Cécile Libioulle, Snaevar Sigurdsson, Edouard Louis, Ann-Christin Wiman, Séverine Vermeire, Paul Rutgeerts, Jacques Belaiche, Denis Franchimont, André Van Gossum, Vincent Bours, and Ann-Christine Syvänen
An insertion–deletion polymorphism in the Interferon Regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases
Human Molecular Genetics Advance Access published on September 19, 2007
Hum. Mol. Genet. 2007 16: 3008-3016; doi:10.1093/hmg/ddm259 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Takahiro Yanagiya, Atsushi Tanabe, Aritoshi Iida, Susumu Saito, Akihiro Sekine, Atsushi Takahashi, Tatsuhiko Tsunoda, Seika Kamohara, Yoshio Nakata, Kazuaki Kotani, Ryoya Komatsu, Naoto Itoh, Ikuo Mineo, Jun Wada, Hiroaki Masuzaki, Masato Yoneda, Atsushi Nakajima, Shigeru Miyazaki, Katsuto Tokunaga, Manabu Kawamoto, Tohru Funahashi, Kazuyuki Hamaguchi, Kiyoji Tanaka, Kentaro Yamada, Toshiaki Hanafusa, Shinichi Oikawa, Hironobu Yoshimatsu, Kazuwa Nakao, Toshiie Sakata, Yuji Matsuzawa, Naoyuki Kamatani, Yusuke Nakamura, and Kikuko Hotta
Association of single-nucleotide polymorphisms in MTMR9 gene with obesity
Human Molecular Genetics Advance Access published on September 12, 2007
Hum. Mol. Genet. 2007 16: 3017-3026; doi:10.1093/hmg/ddm260 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

Darren Greetham, Charles D. Ellis, Devesh Mewar, Ursula Fearon, Sinead Nic an Ultaigh, Douglas J. Veale, François Guesdon, and Anthony G. Wilson
Functional characterization of NF-{kappa}B inhibitor-like protein 1 (NF{kappa}BIL1), a candidate susceptibility gene for rheumatoid arthritis
Human Molecular Genetics Advance Access published on September 12, 2007
Hum. Mol. Genet. 2007 16: 3027-3036; doi:10.1093/hmg/ddm261 [Abstract] [Full Text] [PDF] [Request Permissions]  

Ken Inoue, Tomoko Ohyama, Yosuke Sakuragi, Ryoko Yamamoto, Naoko A. Inoue, Yu Li-Hua, Yu-ichi Goto, Michael Wegner, and James R. Lupski
Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain
Human Molecular Genetics Advance Access published on September 13, 2007
Hum. Mol. Genet. 2007 16: 3037-3046; doi:10.1093/hmg/ddm262 [Abstract] [Full Text] [PDF] [Request Permissions]  

Laetitia Davidovic, Xavier H. Jaglin, Aude-Marie Lepagnol-Bestel, Sandra Tremblay, Michel Simonneau, Barbara Bardoni, and Edouard W. Khandjian
The fragile X mental retardation protein is a molecular adaptor between the neurospecific KIF3C kinesin and dendritic RNA granules
Human Molecular Genetics Advance Access published on September 19, 2007
Hum. Mol. Genet. 2007 16: 3047-3058; doi:10.1093/hmg/ddm263 [Abstract] [Full Text] [PDF] [Request Permissions]  

Precious J. McLaughlin, Benjamin Bakall, Jiwon Choi, Zhonglin Liu, Takako Sasaki, Elaine C. Davis, Alan D. Marmorstein, and Lihua Y. Marmorstein
Lack of fibulin-3 causes early aging and herniation, but not macular degeneration in mice
Human Molecular Genetics Advance Access published on September 13, 2007
Hum. Mol. Genet. 2007 16: 3059-3070; doi:10.1093/hmg/ddm264 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Dorthe Hellemann, Anders Larsson, Hans O. Madsen, Jan Bonde, Jens Otto Jarløv, Jørgen Wiis, Torsten Faber, Jørn Wetterslev, and Peter Garred
Heterozygosity of mannose-binding lectin (MBL2) genotypes predicts advantage (heterosis) in relation to fatal outcome in intensive care patients
Human Molecular Genetics Advance Access published on September 14, 2007
Hum. Mol. Genet. 2007 16: 3071-3080; doi:10.1093/hmg/ddm265 [Abstract] [Full Text] [PDF] [Request Permissions]  

Antonio Marchini, Beate Häcker, Tiina Marttila, Volker Hesse, Joyce Emons, Birgit Weiss, Marcel Karperien, and Gudrun Rappold
BNP is a transcriptional target of the short stature homeobox gene SHOX
Human Molecular Genetics Advance Access published on September 19, 2007
Hum. Mol. Genet. 2007 16: 3081-3087; doi:10.1093/hmg/ddm266 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

David A. Claassen and Robert S. Lahue
Expansions of CAG·CTG repeats in immortalized human astrocytes
Human Molecular Genetics Advance Access published on September 19, 2007
Hum. Mol. Genet. 2007 16: 3088-3096; doi:10.1093/hmg/ddm270 [Abstract] [Full Text] [PDF] [Request Permissions]  

Tim De Meyer, Ernst R. Rietzschel, Marc L. De Buyzere, Dirk De Bacquer, Wim Van Criekinge, Guy G. De Backer, Thierry C. Gillebert, Patrick Van Oostveldt, and Sofie Bekaert on behalf of the Asklepios investigators
Paternal age at birth is an important determinant of offspring telomere length
Human Molecular Genetics Advance Access published on September 19, 2007
Hum. Mol. Genet. 2007 16: 3097-3102; doi:10.1093/hmg/ddm271 [Abstract] [FREE Full Text] [PDF]   OPEN ACCESS ARTICLE  

Jinbin Zhai, Hong Lin, Jean-Pierre Julien, and William W. Schlaepfer
Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot–Marie–Tooth disease-linked mutations in NFL and HSPB1
Human Molecular Genetics Advance Access published on September 19, 2007
Hum. Mol. Genet. 2007 16: 3103-3116; doi:10.1093/hmg/ddm272 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Patrick J. Hayden, Prerna Tewari, Derek W. Morris, Anthony Staines, Dominique Crowley, Alexandra Nieters, Nikolaus Becker, Silvia de Sanjosé, Lenka Foretova, Marc Maynadié, Pier Luigi Cocco, Paolo Boffetta, Paul Brennan, Stephen J. Chanock, Paul V. Browne, and Mark Lawler
Variation in DNA repair genes XRCC3, XRCC4, XRCC5 and susceptibility to myeloma
Human Molecular Genetics Advance Access published on September 26, 2007
Hum. Mol. Genet. 2007 16: 3117-3127; doi:10.1093/hmg/ddm273 [Abstract] [Full Text] [PDF] [Request Permissions]  

Yansong Bian, Thomas J. Knobloch, Maureen Sadim, Virginia Kaklamani, Adekunle Raji, Guang-Yu Yang, Christopher M. Weghorst, and Boris Pasche
Somatic acquisition of TGFBR1*6A by epithelial and stromal cells during head and neck and colon cancer development
Human Molecular Genetics Advance Access published on September 21, 2007
Hum. Mol. Genet. 2007 16: 3128-3135; doi:10.1093/hmg/ddm274 [Abstract] [Full Text] [PDF] [Request Permissions]  

Emily H. Smith, Ralf Janknecht, and L. James Maher, III
Succinate inhibition of {alpha}-ketoglutarate-dependent enzymes in a yeast model of paraganglioma
Human Molecular Genetics Advance Access published on September 19, 2007
Hum. Mol. Genet. 2007 16: 3136-3148; doi:10.1093/hmg/ddm275 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

Tsuyoshi Kashima, Nishta Rao, Charles J. David, and James L. Manley
hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing
Human Molecular Genetics Advance Access published on September 19, 2007
Hum. Mol. Genet. 2007 16: 3149-3159; doi:10.1093/hmg/ddm276 [Abstract] [Full Text] [PDF] [Request Permissions]  

Josef D. Franke, Ruth A. Montague, Wayne L. Rickoll, and Daniel P. Kiehart
An MYH9 human disease model in flies: site-directed mutagenesis of the Drosophila non-muscle myosin II results in hypomorphic alleles with dominant character
Human Molecular Genetics Advance Access published on September 26, 2007
Hum. Mol. Genet. 2007 16: 3160-3173; doi:10.1093/hmg/ddm279 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Paula D. Ladd, Leslie E. Smith, Natalia A. Rabaia, James M. Moore, Sara A. Georges, R. Scott Hansen, Randi J. Hagerman, Flora Tassone, Stephen J. Tapscott, and Galina N. Filippova
An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals
Human Molecular Genetics Advance Access published on October 6, 2007
Hum. Mol. Genet. 2007 16: 3174-3187; doi:10.1093/hmg/ddm293 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Irma S. Lantinga-van Leeuwen, Wouter N. Leonhard, Annemieke van der Wal, Martijn H. Breuning, Emile de Heer, and Dorien J.M. Peters
Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice
Human Molecular Genetics Advance Access published on October 11, 2007
Hum. Mol. Genet. 2007 16: 3188-3196; doi:10.1093/hmg/ddm299 [Abstract] [Full Text] [PDF] [Request Permissions]  

CORRIGENDUM Back

Tony Merriman, Rebecca Twells, Marilyn Merriman, Iain Eaves, Roger Cox, Francesco Cucca, Patricia McKinney, Julian Shield, David Baum, Emanuele Bosi, Paolo Pozzilli, Lorenza Nisticò, Raffaella Buzzetti, Geir Joner, Kjersti S. Rønningen, Erik Thorsby, Dag Undlien, Flemming Pociot, Jørn Nerup, Stephen Bain, Anthony Barnett, and John Todd
Evidence by allelic association-dependent methods for a type 1 diabetes polygene (IDDM6) on chromosome 18q21
Human Molecular Genetics Advance Access published on November 1, 2007
Hum. Mol. Genet. 2007 16: 3197; doi:10.1093/hmg/ddm307 [Extract] [Full Text] [PDF] [Request Permissions]  

Peter Reed, Francesco Cucca, Suzanne Jenkins, Marilyn Merriman, Amanda Wilson, Patricia McKinney, Emanuele Bosi, Geir Joner, Kjersti S. Rønningen, Erik Thorsby, Dag Undlien, Tony Merriman, Anthony Barnett, Stephen Bain, and John Todd
Evidence for a type 1 diabetes susceptibility locus (IDDM10) on human chromosome 10p11-q11
Human Molecular Genetics Advance Access published on November 1, 2007
Hum. Mol. Genet. 2007 16: 3198; doi:10.1093/hmg/ddm308 [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.