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Previous Next 		Contents: Volume 18, Number 13, 1 July 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

Irene Ceballos-Picot, Lionel Mockel, Marie-Claude Potier, Luce Dauphinot, Thomas L. Shirley, Raoul Torero-Ibad, Julia Fuchs, and H.A. Jinnah
Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis
Human Molecular Genetics Advance Access published on April 2, 2009
Hum. Mol. Genet. 2009 18: 2317-2327; doi:10.1093/hmg/ddp164 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Xuewen Song, Valeria Di Giovanni, Ning He, Kairong Wang, Alistair Ingram, Norman D. Rosenblum, and York Pei
Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks
Human Molecular Genetics Advance Access published on April 3, 2009
Hum. Mol. Genet. 2009 18: 2328-2343; doi:10.1093/hmg/ddp165 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Matthew Locke, Caroline L. Tinsley, Matthew A. Benson, and Derek J. Blake
TRIM32 is an E3 ubiquitin ligase for dysbindin
Human Molecular Genetics Advance Access published on April 6, 2009
Hum. Mol. Genet. 2009 18: 2344-2358; doi:10.1093/hmg/ddp167 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Coen A.C. Ottenheijm, Christian C. Witt, Ger J. Stienen, Siegfried Labeit, Alan H. Beggs, and Henk Granzier
Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency
Human Molecular Genetics Advance Access published on April 4, 2009
Hum. Mol. Genet. 2009 18: 2359-2369; doi:10.1093/hmg/ddp168 [Abstract] [Full Text] [PDF] [Request Permissions]  

Patricia Blanco-Arias, Anja P. Einholm, Hafsa Mamsa, Carla Concheiro, Hugo Gutiérrez-de-Terán, Jesús Romero, Mads S. Toustrup-Jensen, Ángel Carracedo, Joanna C. Jen, Bente Vilsen, and María-Jesús Sobrido
A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism
Human Molecular Genetics Advance Access published on April 7, 2009
Hum. Mol. Genet. 2009 18: 2370-2377; doi:10.1093/hmg/ddp170 [Abstract] [Full Text] [PDF] [Request Permissions]  

Kristen Pollizzi, Izabela Malinowska-Kolodziej, Cheryl Doughty, Charles Betz, Jian Ma, June Goto, and David J. Kwiatkowski
A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles
Human Molecular Genetics Advance Access published on April 8, 2009
Hum. Mol. Genet. 2009 18: 2378-2387; doi:10.1093/hmg/ddp176 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Luan Shu, Aleksey V. Matveyenko, Julie Kerr-Conte, Jae-Hyoung Cho, Christopher H.S. McIntosh, and Kathrin Maedler
Decreased TCF7L2 protein levels in type 2 diabetes mellitus correlate with downregulation of GIP- and GLP-1 receptors and impaired beta-cell function
Human Molecular Genetics Advance Access published on April 21, 2009
Hum. Mol. Genet. 2009 18: 2388-2399; doi:10.1093/hmg/ddp178 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Tarvinder K. Taneja, Jamel Mankouri, Rucha Karnik, Soundarapandian Kannan, Andrew J. Smith, Tim Munsey, Henrik B.T. Christesen, David J. Beech, and Asipu Sivaprasadarao
Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism
Human Molecular Genetics Advance Access published on April 8, 2009
Hum. Mol. Genet. 2009 18: 2400-2413; doi:10.1093/hmg/ddp179 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Lauren Snider, Amy Asawachaicharn, Ashlee E. Tyler, Linda N. Geng, Lisa M. Petek, Lisa Maves, Daniel G. Miller, Richard J.L.F. Lemmers, Sara T. Winokur, Rabi Tawil, Silvère M. van der Maarel, Galina N. Filippova, and Stephen J. Tapscott
RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy
Human Molecular Genetics Advance Access published on April 9, 2009
Hum. Mol. Genet. 2009 18: 2414-2430; doi:10.1093/hmg/ddp180 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Shay Ben-Shachar, Maria Chahrour, Christina Thaller, Chad A. Shaw, and Huda Y. Zoghbi
Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus
Human Molecular Genetics Advance Access published on April 15, 2009
Hum. Mol. Genet. 2009 18: 2431-2442; doi:10.1093/hmg/ddp181 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Vera Hashem, Jocelyn N. Galloway, Mayra Mori, Rob Willemsen, Ben A. Oostra, Richard Paylor, and David L. Nelson
Ectopic expression of CGG containing mRNA is neurotoxic in mammals
Human Molecular Genetics Advance Access published on April 18, 2009
Hum. Mol. Genet. 2009 18: 2443-2451; doi:10.1093/hmg/ddp182 [Abstract] [Full Text] [PDF] [Request Permissions]  

Giovanni Coppola, Daniele Marmolino, Daning Lu, Qing Wang, Miriam Cnop, Myriam Rai, Fabio Acquaviva, Sergio Cocozza, Massimo Pandolfo, and Daniel H. Geschwind
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPAR{gamma} pathway as a therapeutic target in Friedreich’s ataxia
Human Molecular Genetics Advance Access published on April 17, 2009
Hum. Mol. Genet. 2009 18: 2452-2461; doi:10.1093/hmg/ddp183 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Loren G. Fong, Timothy A. Vickers, Emily A. Farber, Christine Choi, Ui Jeong Yun, Yan Hu, Shao H. Yang, Catherine Coffinier, Roger Lee, Liya Yin, Brandon S.J. Davies, Douglas A. Andres, H. Peter Spielmann, C. Frank Bennett, and Stephen G. Young
Activating the synthesis of progerin, the mutant prelamin A in Hutchinson–Gilford progeria syndrome, with antisense oligonucleotides
Human Molecular Genetics Advance Access published on April 17, 2009
Hum. Mol. Genet. 2009 18: 2462-2471; doi:10.1093/hmg/ddp184 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Fen Zhou, Philip Leder, Aimée Zuniga, and Markus Dettenhofer
Formin1 disruption confers oligodactylism and alters Bmp signaling
Human Molecular Genetics Advance Access published on April 20, 2009
Hum. Mol. Genet. 2009 18: 2472-2482; doi:10.1093/hmg/ddp185 [Abstract] [Full Text] [PDF] [Request Permissions]  

ASSOCIATION STUDIES ARTICLES Back

Minori Koga, Hiroki Ishiguro, Saori Yazaki, Yasue Horiuchi, Makoto Arai, Kazuhiro Niizato, Shuji Iritani, Masanari Itokawa, Toshiya Inada, Nakao Iwata, Norio Ozaki, Hiroshi Ujike, Hiroshi Kunugi, Tsukasa Sasaki, Makoto Takahashi, Yuichiro Watanabe, Toshiyuki Someya, Akiyoshi Kakita, Hitoshi Takahashi, Hiroyuki Nawa, Christian Muchardt, Moshe Yaniv, and Tadao Arinami
Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia
Human Molecular Genetics Advance Access published on April 10, 2009
Hum. Mol. Genet. 2009 18: 2483-2494; doi:10.1093/hmg/ddp166 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Hélène Choquet, Christine Cavalcanti-Proença, Cécile Lecoeur, Christian Dina, Stéphane Cauchi, Martine Vaxillaire, Samy Hadjadj, Fritz Horber, Natasha Potoczna, Guillaume Charpentier, Juan Ruiz, Serge Hercberg, Suliya Maimaitiming, Ronan Roussel, Michael Boenhnke, Anne U. Jackson, Wolfgang Patsch, Franz Krempler, Benjamin F. Voight, David Altshuler, Leif Groop, Gudmar Thorleifsson, Valgerdur Steinthorsdottir, Kari Stefansson, Beverley Balkau, Philippe Froguel, and David Meyre
The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects
Human Molecular Genetics Advance Access published on April 18, 2009
Hum. Mol. Genet. 2009 18: 2495-2501; doi:10.1093/hmg/ddp169 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Ke-Da Yu, Gen-Hong Di, Wen-Tao Yuan, Lei Fan, Jiong Wu, Zhen Hu, Zhen-Zhou Shen, Ying Zheng, Wei Huang, and Zhi-Ming Shao
Functional polymorphisms, altered gene expression and genetic association link NRH:quinone oxidoreductase 2 to breast cancer with wild-type p53
Human Molecular Genetics Advance Access published on April 7, 2009
Hum. Mol. Genet. 2009 18: 2502-2517; doi:10.1093/hmg/ddp171 [Abstract] [Full Text] [PDF] [Request Permissions]  

Anne Barton, Steve Eyre, Xiayi Ke, Anne Hinks, John Bowes, Edward Flynn, Paul Martin, YEAR Consortium, BIRAC Consortium, Anthony G. Wilson, Ann W. Morgan, Paul Emery, Sophia Steer, Lynne J. Hocking, David M. Reid, Pille Harrison, Paul Wordsworth, Wendy Thomson, and Jane Worthington
Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes
Human Molecular Genetics Advance Access published on April 9, 2009
Hum. Mol. Genet. 2009 18: 2518-2522; doi:10.1093/hmg/ddp177 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

FRONT-MATTER/BACK-MATTER Back

Cover Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp224 [PDF] [Request Permissions]  

Editorial Board
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp225 [PDF] [Request Permissions]  

Subscription Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp228 [PDF] [Request Permissions]  

Contents Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp223 [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.