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Previous Next 		Contents: Volume 17, Number 23, 1 December 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

Barbara Royer-Zemmour, Magali Ponsole-Lenfant, Hyam Gara, Patrice Roll, Christian Lévêque, Annick Massacrier, Géraldine Ferracci, Jennifer Cillario, Andrée Robaglia-Schlupp, Renaud Vincentelli, Pierre Cau, and Pierre Szepetowski
Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR
Human Molecular Genetics Advance Access published on August 21, 2008
Hum. Mol. Genet. 2008 17: 3617-3630; doi:10.1093/hmg/ddn256 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Rosa Rademakers, Jason L. Eriksen, Matt Baker, Todd Robinson, Zeshan Ahmed, Sarah J. Lincoln, Nicole Finch, Nicola J. Rutherford, Richard J. Crook, Keith A. Josephs, Bradley F. Boeve, David S. Knopman, Ronald C. Petersen, Joseph E. Parisi, Richard J. Caselli, Zbigniew K. Wszolek, Ryan J. Uitti, Howard Feldman, Michael L. Hutton, Ian R. Mackenzie, Neill R. Graff-Radford, and Dennis W. Dickson
Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia
Human Molecular Genetics Advance Access published on August 21, 2008
Hum. Mol. Genet. 2008 17: 3631-3642; doi:10.1093/hmg/ddn257 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Shankar R. Venugopalan, Melanie A. Amen, Jianbo Wang, Leeyean Wong, Adriana C. Cavender, Rena N. D'Souza, Mikael Akerlund, Steve L. Brody, Tord A. Hjalt, and Brad A. Amendt
Novel expression and transcriptional regulation of FoxJ1 during oro-facial morphogenesis
Human Molecular Genetics Advance Access published on August 22, 2008
Hum. Mol. Genet. 2008 17: 3643-3654; doi:10.1093/hmg/ddn258 [Abstract] [Full Text] [PDF] [Request Permissions]  

Tobias Schäfer, Michael Pütz, Soeren Lienkamp, Athina Ganner, Astrid Bergbreiter, Haribaskar Ramachandran, Verena Gieloff, Martin Gerner, Christian Mattonet, Peter G. Czarnecki, John A. Sayer, Edgar A. Otto, Friedhelm Hildebrandt, Albrecht Kramer-Zucker, and Gerd Walz
Genetic and physical interaction between the NPHP5 and NPHP6 gene products
Human Molecular Genetics Advance Access published on August 23, 2008
Hum. Mol. Genet. 2008 17: 3655-3662; doi:10.1093/hmg/ddn260 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Iris Eisenberg, Noa Novershtern, Zohar Itzhaki, Michal Becker-Cohen, Menachem Sadeh, Peter H.G.M. Willems, Nir Friedman, Werner J.H. Koopman, and Stella Mitrani-Rosenbaum
Mitochondrial processes are impaired in hereditary inclusion body myopathy
Human Molecular Genetics Advance Access published on August 23, 2008
Hum. Mol. Genet. 2008 17: 3663-3674; doi:10.1093/hmg/ddn261 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Katie A. Burren, Dawn Savery, Valentina Massa, Robert M. Kok, John M. Scott, Henk J. Blom, Andrew J. Copp, and Nicholas D.E. Greene
Gene–environment interactions in the causation of neural tube defects: folate deficiency increases susceptibility conferred by loss of Pax3 function
Human Molecular Genetics Advance Access published on August 26, 2008
Hum. Mol. Genet. 2008 17: 3675-3685; doi:10.1093/hmg/ddn262 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Bert Blaauw, Cristina Mammucari, Luana Toniolo, Lisa Agatea, Reimar Abraham, Marco Sandri, Carlo Reggiani, and Stefano Schiaffino
Akt activation prevents the force drop induced by eccentric contractions in dystrophin-deficient skeletal muscle
Human Molecular Genetics Advance Access published on August 27, 2008
Hum. Mol. Genet. 2008 17: 3686-3696; doi:10.1093/hmg/ddn264 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Florin Sasarman, Hana Antonicka, and Eric A. Shoubridge
The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2
Human Molecular Genetics Advance Access published on August 27, 2008
Hum. Mol. Genet. 2008 17: 3697-3707; doi:10.1093/hmg/ddn265 [Abstract] [Full Text] [PDF] [Request Permissions]  

Yuko Hiruma, Noriyoshi Kurihara, Mark A. Subler, Hua Zhou, Christina S. Boykin, Heju Zhang, Seiichi Ishizuka, David W. Dempster, G. David Roodman, and Jolene J. Windle
A SQSTM1/p62 mutation linked to Paget’s disease increases the osteoclastogenic potential of the bone microenvironment
Human Molecular Genetics Advance Access published on September 2, 2008
Hum. Mol. Genet. 2008 17: 3708-3719; doi:10.1093/hmg/ddn266 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Alan M. Pittman, Emily Webb, Luis Carvajal-Carmona, Kimberley Howarth, Maria Chiara Di Bernardo, Peter Broderick, Sarah Spain, Axel Walther, Amy Price, Kate Sullivan, Philip Twiss, Sarah Fielding, Andrew Rowan, Emma Jaeger, Jayaram Vijayakrishnan, Ian Chandler, Steven Penegar, Mobshra Qureshi, Steven Lubbe, Enric Domingo, Zoe Kemp, Ella Barclay, Wendy Wood, Lynn Martin, Maggie Gorman, Huw Thomas, Julian Peto, Timothy Bishop, Richard Gray, Eamonn R. Maher, Anneke Lucassen, David Kerr, Gareth R. Evans, The CORGI Consortium, Tom van Wezel, Hans Morreau, Juul T. Wijnen, John L. Hopper, Melissa C. Southey, Graham G. Giles, Gianluca Severi, Sergi Castellví-Bel, Clara Ruiz-Ponte, Angel Carracedo, Antoni Castells, The EPICOLON Consortium, Asta Försti, Kari Hemminki, Pavel Vodicka, Alessio Naccarati, Lara Lipton, Judy W.C. Ho, K.K. Cheng, Pak C. Sham, J. Luk, Jose A.G. Agúndez, Jose M. Ladero, Miguel de la Hoya, Trinidad Caldés, Iina Niittymäki, Sari Tuupanen, Auli Karhu, Lauri A. Aaltonen, Jean-Baptiste Cazier, Ian P.M. Tomlinson, and Richard S. Houlston
Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer
Human Molecular Genetics Advance Access published on August 27, 2008
Hum. Mol. Genet. 2008 17: 3720-3727; doi:10.1093/hmg/ddn267 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Anna Duarri, Oscar Teijido, Tania López-Hernández, Gert C. Scheper, Herve Barriere, Ilja Boor, Fernando Aguado, Antonio Zorzano, Manuel Palacín, Albert Martínez, Gergely L. Lukacs, Marjo S. van der Knaap, Virginia Nunes, and Raúl Estévez
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects
Human Molecular Genetics Advance Access published on August 30, 2008
Hum. Mol. Genet. 2008 17: 3728-3739; doi:10.1093/hmg/ddn269 [Abstract] [Full Text] [PDF] [Request Permissions]  

Carl T. Fulp, Ginam Cho, Eric D. Marsh, Ilya M. Nasrallah, Patricia A. Labosky, and Jeffrey A. Golden
Identification of Arx transcriptional targets in the developing basal forebrain
Human Molecular Genetics Advance Access published on September 16, 2008
Hum. Mol. Genet. 2008 17: 3740-3760; doi:10.1093/hmg/ddn271 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Duncan B. Sparrow, Encarna Guillén-Navarro, Diane Fatkin, and Sally L. Dunwoodie
Mutation of HAIRY-AND-ENHANCER-OF-SPLIT-7 in humans causes spondylocostal dysostosis
Human Molecular Genetics Advance Access published on September 5, 2008
Hum. Mol. Genet. 2008 17: 3761-3766; doi:10.1093/hmg/ddn272 [Abstract] [Full Text] [PDF] [Request Permissions]  

Judit Pallos, Laszlo Bodai, Tamas Lukacsovich, Judith M. Purcell, Joan S. Steffan, Leslie Michels Thompson, and J. Lawrence Marsh
Inhibition of specific HDACs and sirtuins suppresses pathogenesis in a Drosophila model of Huntington’s disease
Human Molecular Genetics Advance Access published on September 1, 2008
Hum. Mol. Genet. 2008 17: 3767-3775; doi:10.1093/hmg/ddn273 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Mahmoud Reza Mansouri, Jens Schuster, Jitendra Badhai, Eva-Lena Stattin, Ralf Lösel, Martin Wehling, Birgit Carlsson, Outi Hovatta, Per Olof Karlström, Irina Golovleva, Daniela Toniolo, Silvia Bione, John Peluso, and Niklas Dahl
Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure
Human Molecular Genetics Advance Access published on September 9, 2008
Hum. Mol. Genet. 2008 17: 3776-3783; doi:10.1093/hmg/ddn274 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Jun Liang, Cheryl Clark-Dixon, Shaoxiao Wang, Todd R. Flower, Tara Williams-Hart, Richard Zweig, Lucy C. Robinson, Kelly Tatchell, and Stephan N. Witt
Novel suppressors of {alpha}-synuclein toxicity identified using yeast
Human Molecular Genetics Advance Access published on September 4, 2008
Hum. Mol. Genet. 2008 17: 3784-3795; doi:10.1093/hmg/ddn276 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Joon Kim, Suguna Rani Krishnaswami, and Joseph G. Gleeson
CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium
Human Molecular Genetics Advance Access published on September 4, 2008
Hum. Mol. Genet. 2008 17: 3796-3805; doi:10.1093/hmg/ddn277 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Marie L. Lindegaard, Christopher A. Wassif, Boris Vaisman, Marcelo Amar, Elizabeth V. Wasmuth, Robert Shamburek, Lars B. Nielsen, Alan T. Remaley, and Forbes D. Porter
Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith–Lemli–Opitz syndrome
Human Molecular Genetics Advance Access published on September 5, 2008
Hum. Mol. Genet. 2008 17: 3806-3813; doi:10.1093/hmg/ddn278 [Abstract] [Full Text] [PDF] [Request Permissions]  

Paulina Heidrych, Ulrike Zimmermann, Andreas Breß, Carsten M. Pusch, Peter Ruth, Markus Pfister, Marlies Knipper, and Nikolaus Blin
Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form
Human Molecular Genetics Advance Access published on September 4, 2008
Hum. Mol. Genet. 2008 17: 3814-3821; doi:10.1093/hmg/ddn279 [Abstract] [Full Text] [PDF] [Request Permissions]  

Anna H. Hakonen, Steffi Goffart, Sanna Marjavaara, Anders Paetau, Helen Cooper, Kimmo Mattila, Milla Lampinen, Antti Sajantila, Tuula Lönnqvist, Johannes N. Spelbrink, and Anu Suomalainen
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion
Human Molecular Genetics Advance Access published on September 5, 2008
Hum. Mol. Genet. 2008 17: 3822-3835; doi:10.1093/hmg/ddn280 [Abstract] [Full Text] [PDF] [Request Permissions]  

FRONT-MATTER/BACK-MATTER Back

Cover Page
Hum. Mol. Genet. 2008 17: NP; doi:10.1093/hmg/ddn367 [PDF] [Request Permissions]  

Editorial Board
Hum. Mol. Genet. 2008 17: NP; doi:10.1093/hmg/ddn366 [PDF] [Request Permissions]  

Subscription Page
Hum. Mol. Genet. 2008 17: NP; doi:10.1093/hmg/ddn365 [PDF] [Request Permissions]  

Contents Page
Hum. Mol. Genet. 2008 17: NP; doi:10.1093/hmg/ddn364 [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.