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Previous Next 		Contents: Volume 18, Number 4, 15 February 2009   [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

Linda M. DiBella, Alice Park, and Zhaoxia Sun
Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway
Human Molecular Genetics Advance Access published on November 13, 2008
Hum. Mol. Genet. 2009 18: 595-606; doi:10.1093/hmg/ddn384 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Megan J. Puckelwartz, Eric Kessler, Yuan Zhang, Didier Hodzic, K. Natalie Randles, Glenn Morris, Judy U. Earley, Michele Hadhazy, James M. Holaska, Stephanie K. Mewborn, Peter Pytel, and Elizabeth M. McNally
Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice
Human Molecular Genetics Advance Access published on November 13, 2008
Hum. Mol. Genet. 2009 18: 607-620; doi:10.1093/hmg/ddn386 [Abstract] [Full Text] [PDF] [Request Permissions]  

Motoi Kanagawa, Akemi Nishimoto, Tomohiro Chiyonobu, Satoshi Takeda, Yuko Miyagoe-Suzuki, Fan Wang, Nobuhiro Fujikake, Mariko Taniguchi, Zhongpeng Lu, Masaji Tachikawa, Yoshitaka Nagai, Fumi Tashiro, Jun-Ichi Miyazaki, Youichi Tajima, Shin'ichi Takeda, Tamao Endo, Kazuhiro Kobayashi, Kevin P. Campbell, and Tatsushi Toda
Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy
Human Molecular Genetics Advance Access published on November 18, 2008
Hum. Mol. Genet. 2009 18: 621-631; doi:10.1093/hmg/ddn387 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Bérénice A. Benayoun, Frank Batista, Jana Auer, Aurélie Dipietromaria, David L'Hôte, Elfride De Baere, and Reiner A. Veitia
Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations
Human Molecular Genetics Advance Access published on November 14, 2008
Hum. Mol. Genet. 2009 18: 632-644; doi:10.1093/hmg/ddn389 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Amelia K. Linnemann, Adrian E. Platts, and Stephen A. Krawetz
Differential nuclear scaffold/matrix attachment marks expressed genes
Human Molecular Genetics Advance Access published on November 18, 2008
Hum. Mol. Genet. 2009 18: 645-654; doi:10.1093/hmg/ddn394 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Eberhard Schneider, Tina Märker, Angelika Daser, Gabriele Frey-Mahn, Vera Beyer, Ruxandra Farcas, Brigitte Schneider-Rätzke, Nicolai Kohlschmidt, Bärbel Grossmann, Katharina Bauss, Ulrike Napiontek, Annerose Keilmann, Oliver Bartsch, Ulrich Zechner, Uwe Wolfrum, and Thomas Haaf
Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment
Human Molecular Genetics Advance Access published on November 20, 2008
Hum. Mol. Genet. 2009 18: 655-666; doi:10.1093/hmg/ddn395 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Richard I. Tuxworth, Valérie Vivancos, Megan B. O'Hare, and Guy Tear
Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways
Human Molecular Genetics Advance Access published on November 21, 2008
Hum. Mol. Genet. 2009 18: 667-678; doi:10.1093/hmg/ddn396 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Ching-Lung Cheung, Benjamin Y.Y. Chan, Vivian Chan, Shiro Ikegawa, Ikuyo Kou, Heidi Ngai, David Smith, Keith D.K. Luk, Qing-Yang Huang, Seijiro Mori, Pak-Chung Sham, and Annie W.C. Kung
Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation
Human Molecular Genetics Advance Access published on December 8, 2008
Hum. Mol. Genet. 2009 18: 679-687; doi:10.1093/hmg/ddn397 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Punitee Garyali, Pratibha Siwach, Pankaj Kumar Singh, Rajat Puri, Shuchi Mittal, Sonali Sengupta, Rashmi Parihar, and Subramaniam Ganesh
The malin–laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin–proteasome system
Human Molecular Genetics Advance Access published on November 25, 2008
Hum. Mol. Genet. 2009 18: 688-700; doi:10.1093/hmg/ddn398 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Ming Zheng, Hongqiang Cheng, Xiaodong Li, Jianlin Zhang, Li Cui, Kunfu Ouyang, Liang Han, Ting Zhao, Yusu Gu, Nancy D. Dalton, Marie-Louise Bang, Kirk L. Peterson, and Ju Chen
Cardiac-specific ablation of Cypher leads to a severe form of dilated cardiomyopathy with premature death
Human Molecular Genetics Advance Access published on November 21, 2008
Hum. Mol. Genet. 2009 18: 701-713; doi:10.1093/hmg/ddn400 [Abstract] [Full Text] [PDF] [Request Permissions]  

Luis C. López, Hasan O. Akman, Ángeles García-Cazorla, Beatriz Dorado, Ramón Martí, Ichizo Nishino, Saba Tadesse, Giuseppe Pizzorno, Dikoma Shungu, Eduardo Bonilla, Kurenai Tanji, and Michio Hirano
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice
Human Molecular Genetics Advance Access published on November 21, 2008
Hum. Mol. Genet. 2009 18: 714-722; doi:10.1093/hmg/ddn401 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Toshiya Sato, Masami Miura, Mitsunori Yamada, Takayuki Yoshida, Jonathan D. Wood, Ikuru Yazawa, Masao Masuda, Takeo Suzuki, Ryong-Moon Shin, Hau-Jie Yau, Fu-Chin Liu, Takayoshi Shimohata, Osamu Onodera, Christopher A. Ross, Motoya Katsuki, Hitoshi Takahashi, Masanobu Kano, Toshihiko Aosaki, and Shoji Tsuji
Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice
Human Molecular Genetics Advance Access published on November 27, 2008
Hum. Mol. Genet. 2009 18: 723-736; doi:10.1093/hmg/ddn403 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Hongmin Wang, Precious J. Lim, Mariusz Karbowski, and Mervyn J. Monteiro
Effects of overexpression of Huntingtin proteins on mitochondrial integrity
Human Molecular Genetics Advance Access published on November 27, 2008
Hum. Mol. Genet. 2009 18: 737-752; doi:10.1093/hmg/ddn404 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

ASSOCIATION STUDIES ARTICLES Back

Terence Y.C. Pang, Xin Du, Michelle S. Zajac, Monique L. Howard, and Anthony J. Hannan
Altered serotonin receptor expression is associated with depression-related behavior in the R6/1 transgenic mouse model of Huntington's disease
Human Molecular Genetics Advance Access published on November 13, 2008
Hum. Mol. Genet. 2009 18: 753-766; doi:10.1093/hmg/ddn385 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Sergio E. Baranzini, Joanne Wang, Rachel A. Gibson, Nicholas Galwey, Yvonne Naegelin, Frederik Barkhof, Ernst-Wilhelm Radue, Raija L.P. Lindberg, Bernard M.G. Uitdehaag, Michael R. Johnson, Aspasia Angelakopoulou, Leslie Hall, Jill C. Richardson, Rab K. Prinjha, Achim Gass, Jeroen J.G. Geurts, Jolijn Kragt, Madeleine Sombekke, Hugo Vrenken, Pamela Qualley, Robin R. Lincoln, Refujia Gomez, Stacy J. Caillier, Michaela F. George, Hourieh Mousavi, Rosa Guerrero, Darin T. Okuda, Bruce A. C. Cree, Ari J. Green, Emmanuelle Waubant, Douglas S. Goodin, Daniel Pelletier, Paul M. Matthews, Stephen L. Hauser, Ludwig Kappos, Chris H. Polman, and Jorge R. Oksenberg
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis
Human Molecular Genetics Advance Access published on November 14, 2008
Hum. Mol. Genet. 2009 18: 767-778; doi:10.1093/hmg/ddn388 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Joanna L. Kelley, Kayley Turkheimer, Margo Haney, and Willie J. Swanson
Targeted resequencing of two genes, RAGE and POLL, confirms findings from a genome-wide scan for adaptive evolution and provides evidence for positive selection in additional populations
Human Molecular Genetics Advance Access published on December 5, 2008
Hum. Mol. Genet. 2009 18: 779-784; doi:10.1093/hmg/ddn399 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Rick A. Friedman, Lut Van Laer, Matthew J. Huentelman, Sonal S. Sheth, Els Van Eyken, Jason J. Corneveaux, Waibhav D. Tembe, Rebecca F. Halperin, Ashley Q. Thorburn, Sofie Thys, Sarah Bonneux, Erik Fransen, Jeroen Huyghe, 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, Linna Makmura, Jeffrey D. Ohmen, Frederick H. Linthicum, Jr., Jose N. Fayad, John V. Pearson, David W. Craig, Dietrich A. Stephan, and Guy Van Camp
GRM7 variants confer susceptibility to age-related hearing impairment
Human Molecular Genetics Advance Access published on December 1, 2008
Hum. Mol. Genet. 2009 18: 785-796; doi:10.1093/hmg/ddn402 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

FRONT-MATTER/BACK-MATTER Back

Cover Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp038 [PDF] [Request Permissions]  

Editorial Board
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp039 [PDF] [Request Permissions]  

Subscription Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp040 [PDF] [Request Permissions]  

Contents Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp037 [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.