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Previous Next 		Contents: Volume 18, Number 7, 1 April 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

Benoît Renvoisé, Sabrina Colasse, Philippe Burlet, Louis Viollet, U. Thomas Meier, and Suzie Lefebvre
The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophy
Human Molecular Genetics Advance Access published on January 7, 2009
Hum. Mol. Genet. 2009 18: 1181-1189; doi:10.1093/hmg/ddp009 [Abstract] [Full Text] [PDF] [Request Permissions]  

Tracy L. Hagemann, Wilbert C. Boelens, Eric F. Wawrousek, and Albee Messing
Suppression of GFAP toxicity by {alpha}B-crystallin in mouse models of Alexander disease
Human Molecular Genetics Advance Access published on January 7, 2009
Hum. Mol. Genet. 2009 18: 1190-1199; doi:10.1093/hmg/ddp013 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Megan L. Landsverk, Elizabeth K. Ruzzo, Heather C. Mefford, Karen Buysse, Jillian G. Buchan, Evan E. Eichler, Elizabeth M. Petty, Esther A. Peterson, Dana M. Knutzen, Karen Barnett, Martin R. Farlow, Judy Caress, Gareth J. Parry, Dianna Quan, Kathy L. Gardner, Ming Hong, Zachary Simmons, Thomas D. Bird, Phillip F. Chance, and Mark C. Hannibal
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy
Human Molecular Genetics Advance Access published on January 12, 2009
Hum. Mol. Genet. 2009 18: 1200-1208; doi:10.1093/hmg/ddp014 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Dejia Li, Chun Long, Yongping Yue, and Dongsheng Duan
Sub-physiological sarcoglycan expression contributes to compensatory muscle protection in mdx mice
Human Molecular Genetics Advance Access published on January 8, 2009
Hum. Mol. Genet. 2009 18: 1209-1220; doi:10.1093/hmg/ddp015 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Ioannis Georgiou, Dimitrios Noutsopoulos, Eftychia Dimitriadou, Georgios Markopoulos, Anastasia Apergi, Leandros Lazaros, Terpsi Vaxevanoglou, Kostas Pantos, Maria Syrrou, and Theodore Tzavaras
Retrotransposon RNA expression and evidence for retrotransposition events in human oocytes
Human Molecular Genetics Advance Access published on January 15, 2009
Hum. Mol. Genet. 2009 18: 1221-1228; doi:10.1093/hmg/ddp022 [Abstract] [Full Text] [PDF] [Request Permissions]  

Yang Bian, Akio Masuda, Tohru Matsuura, Mikako Ito, Kazuya Okushin, Andrew G. Engel, and Kinji Ohno
Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome
Human Molecular Genetics Advance Access published on January 15, 2009
Hum. Mol. Genet. 2009 18: 1229-1237; doi:10.1093/hmg/ddp023 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Peng Zhang, Ying Luo, Bernard Chasan, Silvia González-Perrett, Nicolás Montalbetti, Gustavo A. Timpanaro, María del Rocío Cantero, Arnolt J. Ramos, Wolfgang H. Goldmann, Jing Zhou, and Horacio F. Cantiello
The multimeric structure of polycystin-2 (TRPP2): structural–functional correlates of homo- and hetero-multimers with TRPC1
Human Molecular Genetics Advance Access published on February 3, 2009
Hum. Mol. Genet. 2009 18: 1238-1251; doi:10.1093/hmg/ddp024 [Abstract] [Full Text] [PDF] [Request Permissions]  

Sharon W. Way, James McKenna, III, Ulrike Mietzsch, R. Michelle Reith, Henry Cheng-ju Wu, and Michael J. Gambello
Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse
Human Molecular Genetics Advance Access published on January 15, 2009
Hum. Mol. Genet. 2009 18: 1252-1265; doi:10.1093/hmg/ddp025 [Abstract] [FREE Full Text] [PDF]   Creative Commons License OPEN ACCESS  

Marijana Samardzija, Naoyuki Tanimoto, Corinne Kostic, Susanne Beck, Vitus Oberhauser, Sandrine Joly, Markus Thiersch, Edda Fahl, Yvan Arsenijevic, Johannes von Lintig, Andreas Wenzel, Mathias W. Seeliger, and Christian Grimm
In conditions of limited chromophore supply rods entrap 11-cis-retinal leading to loss of cone function and cell death
Human Molecular Genetics Advance Access published on January 15, 2009
Hum. Mol. Genet. 2009 18: 1266-1275; doi:10.1093/hmg/ddp026 [Abstract] [Full Text] [PDF] [Request Permissions]  

Tim K. Footz, Jill L. Johnson, Stéphane Dubois, Nicolas Boivin, Vincent Raymond, and Michael A. Walter
Glaucoma-associated WDR36 variants encode functional defects in a yeast model system
Human Molecular Genetics Advance Access published on January 15, 2009
Hum. Mol. Genet. 2009 18: 1276-1287; doi:10.1093/hmg/ddp027 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Ulf-Peter Guenther, Lusy Handoko, Bernhard Laggerbauer, Sibylle Jablonka, Ashwin Chari, Mona Alzheimer, Jürgen Ohmer, Oliver Plöttner, Niels Gehring, Albert Sickmann, Katja von Au, Markus Schuelke, and Utz Fischer
IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)
Human Molecular Genetics Advance Access published on January 20, 2009
Hum. Mol. Genet. 2009 18: 1288-1300; doi:10.1093/hmg/ddp028 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Klaus Dieterich, Raoudha Zouari, Radu Harbuz, François Vialard, Delphine Martinez, Hanane Bellayou, Nadia Prisant, Abdelali Zoghmar, Marie Roberte Guichaoua, Isabelle Koscinski, Mahmoud Kharouf, Mehrdad Noruzinia, Sellama Nadifi, Abdelaziz Sefiani, Jacqueline Lornage, Mohamed Zahi, Stéphane Viville, Bernard Sèle, Pierre-Simon Jouk, Marie-Christine Jacob, Denise Escalier, Yorgos Nikas, Sylviane Hennebicq, Joël Lunardi, and Pierre F. Ray
The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population
Human Molecular Genetics Advance Access published on January 15, 2009
Hum. Mol. Genet. 2009 18: 1301-1309; doi:10.1093/hmg/ddp029 [Abstract] [Full Text] [PDF] [Request Permissions]  

Christopher R. Heier and Christine J. DiDonato
Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo
Human Molecular Genetics Advance Access published on January 15, 2009
Hum. Mol. Genet. 2009 18: 1310-1322; doi:10.1093/hmg/ddp030 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Seongjin Seo, Deng-Fu Guo, Kevin Bugge, Donald A. Morgan, Kamal Rahmouni, and Val C. Sheffield
Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling
Human Molecular Genetics Advance Access published on January 15, 2009
Hum. Mol. Genet. 2009 18: 1323-1331; doi:10.1093/hmg/ddp031 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

James M. Flanagan, Marta Munoz-Alegre, Stephen Henderson, Thomas Tang, Ping Sun, Nichola Johnson, Olivia Fletcher, Isabel dos Santos Silva, Julian Peto, Chris Boshoff, Steven Narod, and Arturas Petronis
Gene-body hypermethylation of ATM in peripheral blood DNA of bilateral breast cancer patients
Human Molecular Genetics Advance Access published on January 19, 2009
Hum. Mol. Genet. 2009 18: 1332-1342; doi:10.1093/hmg/ddp033 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Pedro P. Medina, Sandra D. Castillo, Sandra Blanco, Marta Sanz-Garcia, Cristina Largo, Sara Alvarez, Jun Yokota, Ana Gonzalez-Neira, Javier Benitez, Hans C. Clevers, Juan C. Cigudosa, Pedro A. Lazo, and Montse Sanchez-Cespedes
The SRY-HMG box gene, SOX4, is a target of gene amplification at chromosome 6p in lung cancer
Human Molecular Genetics Advance Access published on January 19, 2009
Hum. Mol. Genet. 2009 18: 1343-1352; doi:10.1093/hmg/ddp034 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Elena Kudryashova, Jun Wu, Leif A. Havton, and Melissa J. Spencer
Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component
Human Molecular Genetics Advance Access published on January 19, 2009
Hum. Mol. Genet. 2009 18: 1353-1367; doi:10.1093/hmg/ddp036 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

ASSOCIATION STUDIES ARTICLE Back

Bao-Li Chang, Scott D. Cramer, Fredrik Wiklund, Sarah D. Isaacs, Victoria L. Stevens, Jielin Sun, Shelly Smith, Kristen Pruett, Lina M. Romero, Kathleen E. Wiley, Seong-Tae Kim, Yi Zhu, Zheng Zhang, Fang-Chi Hsu, Aubrey R. Turner, Jan Adolfsson, Wennuan Liu, Jin Woo Kim, David Duggan, John Carpten, S. Lilly Zheng, Carmen Rodriguez, William B. Isaacs, Henrik Grönberg, and Jianfeng Xu
Fine mapping association study and functional analysis implicate a SNP in MSMB at 10q11 as a causal variant for prostate cancer risk
Human Molecular Genetics Advance Access published on January 19, 2009
Hum. Mol. Genet. 2009 18: 1368-1375; doi:10.1093/hmg/ddp035 [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/ddp104 [PDF] [Request Permissions]  

Editorial Board
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp105 [PDF] [Request Permissions]  

Subscription Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp106 [PDF] [Request Permissions]  

Contents Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp103 [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.