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Contents: Volume 18, Number 5, 1 March 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

Dibyendu Chakraborty, Xi-Qin Ding, Shannon M. Conley, Steven J. Fliesler, and Muna I. Naash
Differential requirements for retinal degeneration slow intermolecular disulfide-linked oligomerization in rods versus cones
Human Molecular Genetics Advance Access published on December 2, 2008
Hum. Mol. Genet. 2009 18: 797-808; doi:10.1093/hmg/ddn406 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Elena Rubio de la Torre, Berta Luzón-Toro, Irene Forte-Lago, Adolfo Minguez-Castellanos, Isidro Ferrer, and Sabine Hilfiker
Combined kinase inhibition modulates parkin inactivation
Human Molecular Genetics Advance Access published on December 2, 2008
Hum. Mol. Genet. 2009 18: 809-823; doi:10.1093/hmg/ddn407 [Abstract] [FREE Full Text] [PDF]   Creative Commons License OPEN ACCESS  

Yuko Iwata, Yuki Katanosaka, Yuji Arai, Munekazu Shigekawa, and Shigeo Wakabayashi
Dominant-negative inhibition of Ca2+ influx via TRPV2 ameliorates muscular dystrophy in animal models
Human Molecular Genetics Advance Access published on December 2, 2008
Hum. Mol. Genet. 2009 18: 824-834; doi:10.1093/hmg/ddn408 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Jae Hyun Lee, Branimir Bugarija, Enrique J. Millan, Noah M. Walton, Jedidiah Gaetz, Croydon J. Fernandes, Wei-Hua Yu, Nitzan Mekel-Bobrov, Tammy W. Vallender, Gregory E. Snyder, Andy Peng Xiang, and Bruce T. Lahn
Systematic identification of cis-silenced genes by trans complementation
Human Molecular Genetics Advance Access published on December 2, 2008
Hum. Mol. Genet. 2009 18: 835-846; doi:10.1093/hmg/ddn409 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Sebastian Fantini, Giulia Vaccari, Nathalie Brison, Philippe Debeer, Przemko Tylzanowski, and Vincenzo Zappavigna
A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype
Human Molecular Genetics Advance Access published on December 5, 2008
Hum. Mol. Genet. 2009 18: 847-860; doi:10.1093/hmg/ddn410 [Abstract] [Full Text] [PDF] [Request Permissions]  

Bhagyalaxmi Mohapatra, Brett Casey, Hua Li, Trang Ho-Dawson, Liana Smith, Susan D. Fernbach, Laura Molinari, Stephen R. Niesh, John Lynn Jefferies, William J. Craigen, Jeffrey A. Towbin, John W. Belmont, and Stephanie M. Ware
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations
Human Molecular Genetics Advance Access published on December 8, 2008
Hum. Mol. Genet. 2009 18: 861-871; doi:10.1093/hmg/ddn411 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Samareh Azeredo da Silveira, Bernard L. Schneider, Carmen Cifuentes-Diaz, Daniel Sage, Toufik Abbas-Terki, Takeshi Iwatsubo, Michaël Unser, and Patrick Aebischer
Phosphorylation does not prompt, nor prevent, the formation of {alpha}-synuclein toxic species in a rat model of Parkinson's disease
Human Molecular Genetics Advance Access published on December 12, 2008
Hum. Mol. Genet. 2009 18: 872-887; doi:10.1093/hmg/ddn417 [Abstract] [Full Text] [PDF] [Request Permissions]  

Catherine Deveault, Jian Hua Qian, Wafaa Chebaro, Asangla Ao, Lucy Gilbert, Amira Mehio, Rabia Khan, Seang Lin Tan, Anita Wischmeijer, Philippe Coullin, Xing Xie, and Rima Slim
NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation
Human Molecular Genetics Advance Access published on December 9, 2008
Hum. Mol. Genet. 2009 18: 888-897; doi:10.1093/hmg/ddn418 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Keisuke Tokui, Hiroaki Adachi, Masahiro Waza, Masahisa Katsuno, Makoto Minamiyama, Hideki Doi, Keiji Tanaka, Jun Hamazaki, Shigeo Murata, Fumiaki Tanaka, and Gen Sobue
17-DMAG ameliorates polyglutamine-mediated motor neuron degeneration through well-preserved proteasome function in an SBMA model mouse
Human Molecular Genetics Advance Access published on December 9, 2008
Hum. Mol. Genet. 2009 18: 898-910; doi:10.1093/hmg/ddn419 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Axel Pagenstecher, Sonja Stahl, Ulrich Sure, and Ute Felbor
A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells
Human Molecular Genetics Advance Access published on December 16, 2008
Hum. Mol. Genet. 2009 18: 911-918; doi:10.1093/hmg/ddn420 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Amy L. Akers, Eric Johnson, Gary K. Steinberg, Joseph M. Zabramski, and Douglas A. Marchuk
Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis
Human Molecular Genetics Advance Access published on December 16, 2008
Hum. Mol. Genet. 2009 18: 919-930; doi:10.1093/hmg/ddn430 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Artur V. Cideciyan, Malgorzata Swider, Tomas S. Aleman, Yaroslav Tsybovsky, Sharon B. Schwartz, Elizabeth A.M. Windsor, Alejandro J. Roman, Alexander Sumaroka, Janet D. Steinberg, Samuel G. Jacobson, Edwin M. Stone, and Krzysztof Palczewski
ABCA4 disease progression and a proposed strategy for gene therapy
Human Molecular Genetics Advance Access published on December 12, 2008
Hum. Mol. Genet. 2009 18: 931-941; doi:10.1093/hmg/ddn421 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Minako Tateno, Shinsuke Kato, Takashi Sakurai, Nobuyuki Nukina, Ryosuke Takahashi, and Toshiyuki Araki
Mutant SOD1 impairs axonal transport of choline acetyltransferase and acetylcholine release by sequestering KAP3
Human Molecular Genetics Advance Access published on December 16, 2008
Hum. Mol. Genet. 2009 18: 942-955; doi:10.1093/hmg/ddn422 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Chris D. Pacheco, Matthew J. Elrick, and Andrew P. Lieberman
Tau deletion exacerbates the phenotype of Niemann–Pick type C mice and implicates autophagy in pathogenesis
Human Molecular Genetics Advance Access published on December 12, 2008
Hum. Mol. Genet. 2009 18: 956-965; doi:10.1093/hmg/ddn423 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Chantal F. Medina, Chantal Mazerolle, Yaping Wang, Nathalie G. Bérubé, Stuart Coupland, Richard J. Gibbons, Valerie A. Wallace, and David J. Picketts
Altered visual function and interneuron survival in Atrx knockout mice: inference for the human syndrome
Human Molecular Genetics Advance Access published on December 16, 2008
Hum. Mol. Genet. 2009 18: 966-977; doi:10.1093/hmg/ddn424 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Marie Rogne, Anne Jorunn Stokka, Kjetil Taskén, Philippe Collas, and Thomas Küntziger
Mutually exclusive binding of PP1 and RNA to AKAP149 affects the mitochondrial network
Human Molecular Genetics Advance Access published on December 12, 2008
Hum. Mol. Genet. 2009 18: 978-987; doi:10.1093/hmg/ddn425 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

ASSOCIATION STUDIES ARTICLE Back

Dan Rujescu, Andres Ingason, Sven Cichon, Olli P.H. Pietiläinen, Michael R. Barnes, Timothea Toulopoulou, Marco Picchioni, Evangelos Vassos, Ulrich Ettinger, Elvira Bramon, Robin Murray, Mirella Ruggeri, Sarah Tosato, Chiara Bonetto, Stacy Steinberg, Engilbert Sigurdsson, Thordur Sigmundsson, Hannes Petursson, Arnaldur Gylfason, Pall I. Olason, Gudmundur Hardarsson, Gudrun A. Jonsdottir, Omar Gustafsson, Ragnheidur Fossdal, Ina Giegling, Hans-Jürgen Möller, Annette M. Hartmann, Per Hoffmann, Caroline Crombie, Gillian Fraser, Nicholas Walker, Jouko Lonnqvist, Jaana Suvisaari, Annamari Tuulio-Henriksson, Srdjan Djurovic, Ingrid Melle, Ole A. Andreassen, Thomas Hansen, Thomas Werge, Lambertus A. Kiemeney, Barbara Franke, Joris Veltman, Jacobine E. Buizer-Voskamp, GROUP Investigators, Chiara Sabatti, Roel A. Ophoff, Marcella Rietschel, Markus M. Nöthen, Kari Stefansson, Leena Peltonen, David St Clair, Hreinn Stefansson, and David A. Collier
Disruption of the neurexin 1 gene is associated with schizophrenia
Human Molecular Genetics Advance Access published on October 22, 2008
Hum. Mol. Genet. 2009 18: 988-996; doi:10.1093/hmg/ddn351 [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/ddp064 [PDF] [Request Permissions]  

Editorial Board
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp065 [PDF] [Request Permissions]  

Subscription Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp066 [PDF] [Request Permissions]  

Contents Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp063 [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.