Human Molecular Genetics

ARTICLES

Get checked abstract Vivek K. Vishnudas and Jeffrey Boone Miller

Ku70 regulates Bax-mediated pathogenesis in laminin-2-deficient human muscle cells and mouse models of congenital muscular dystrophy
Human Molecular Genetics Advance Access published on August 19, 2009
Hum. Mol. Genet. 2009 18: 4467-4477; doi:10.1093/hmg/ddp399 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Brian G. Coon, Debarati Mukherjee, Claudia B. Hanna, David J. Riese, II, Martin Lowe, and R. Claudio Aguilar

Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase
Human Molecular Genetics Advance Access published on August 21, 2009
Hum. Mol. Genet. 2009 18: 4478-4491; doi:10.1093/hmg/ddp407 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Jacqueline C. Mitchell, Belall B. Ariff, Darran M. Yates, Kwok-Fai Lau, Michael S. Perkinton, Boris Rogelj, John D. Stephenson, Christopher C.J. Miller, and Declan M. McLoughlin

X11β rescues memory and long-term potentiation deficits in Alzheimer's disease APPswe Tg2576 mice
Human Molecular Genetics Advance Access published on September 10, 2009
Hum. Mol. Genet. 2009 18: 4492-4500; doi:10.1093/hmg/ddp408 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Patricia Kiesler, Arvind Shakya, Dean Tantin, and Donata Vercelli

An allergy-associated polymorphism in a novel regulatory element enhances IL13 expression
Human Molecular Genetics Advance Access published on August 25, 2009
Hum. Mol. Genet. 2009 18: 4513-4520; doi:10.1093/hmg/ddp411 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Susanna Vikman, Romulo M. Brena, Patrice Armstrong, Jaana Hartiala, Charles B. Stephensen, and Hooman Allayee

Functional analysis of 5-lipoxygenase promoter repeat variants
Human Molecular Genetics Advance Access published on August 28, 2009
Hum. Mol. Genet. 2009 18: 4521-4529; doi:10.1093/hmg/ddp414 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Francesca Giordano, Ciro Bonetti, Enrico M. Surace, Valeria Marigo, and Graça Raposo

The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition
Human Molecular Genetics Advance Access published on August 28, 2009
Hum. Mol. Genet. 2009 18: 4530-4545; doi:10.1093/hmg/ddp415 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Petar N. Grozdanov, Narcis Fernandez-Fuentes, Andras Fiser, and U. Thomas Meier

Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita
Human Molecular Genetics Advance Access published on September 4, 2009
Hum. Mol. Genet. 2009 18: 4546-4551; doi:10.1093/hmg/ddp416 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Jordi Magrané, Isabel Hervias, Matthew S. Henning, Maria Damiano, Hibiki Kawamata, and Giovanni Manfredi

Mutant SOD1 in neuronal mitochondria causes toxicity and mitochondrial dynamics abnormalities
Human Molecular Genetics Advance Access published on September 24, 2009
Hum. Mol. Genet. 2009 18: 4552-4564; doi:10.1093/hmg/ddp421 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Scott D. Weatherbee, Lee A. Niswander, and Kathryn V. Anderson

A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling
Human Molecular Genetics Advance Access published on September 22, 2009
Hum. Mol. Genet. 2009 18: 4565-4575; doi:10.1093/hmg/ddp422 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Sara Ricciardi, Charlotte Kilstrup-Nielsen, Thierry Bienvenu, Aurélia Jacquette, Nicoletta Landsberger, and Vania Broccoli

CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery
Human Molecular Genetics Advance Access published on September 9, 2009
Hum. Mol. Genet. 2009 18: 4590-4602; doi:10.1093/hmg/ddp426 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Vincenzo Lupo, Máximo I. Galindo, Dolores Martínez-Rubio, Teresa Sevilla, Juan J. Vílchez, Francesc Palau, and Carmen Espinós

Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway
Human Molecular Genetics Advance Access published on September 10, 2009
Hum. Mol. Genet. 2009 18: 4603-4614; doi:10.1093/hmg/ddp427 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Isabelle Roux, Suzanne Hosie, Stuart L. Johnson, Amel Bahloul, Nadège Cayet, Sylvie Nouaille, Corné J. Kros, Christine Petit, and Saaid Safieddine

Myosin VI is required for the proper maturation and function of inner hair cell ribbon synapses
Human Molecular Genetics Advance Access published on September 10, 2009
Hum. Mol. Genet. 2009 18: 4615-4628; doi:10.1093/hmg/ddp429 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Barbara Giovannone, William G. Tsiaras, Suzanne de la Monte, Jan Klysik, Corinne Lautier, Galina Karashchuk, Stefano Goldwurm, and Robert J. Smith

GIGYF2 gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signaling
Human Molecular Genetics Advance Access published on September 10, 2009
Hum. Mol. Genet. 2009 18: 4629-4639; doi:10.1093/hmg/ddp430 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Pedro Miura, Joe V. Chakkalakal, Louise Boudreault, Guy Bélanger, Richard L. Hébert, Jean-Marc Renaud, and Bernard J. Jasmin

Pharmacological activation of PPARβ/ stimulates utrophin A expression in skeletal muscle fibers and restores sarcolemmal integrity in mature mdx mice
Human Molecular Genetics Advance Access published on September 10, 2009
Hum. Mol. Genet. 2009 18: 4640-4649; doi:10.1093/hmg/ddp431 [Abstract] [Full Text] [PDF] [Request Permissions]  

ASSOCIATION STUDIES ARTICLES

Get checked abstract Anna C. Need, Deborah K. Attix, Jill M. McEvoy, Elizabeth T. Cirulli, Kristen L. Linney, Priscilla Hunt, Dongliang Ge, Erin L. Heinzen, Jessica M. Maia, Kevin V. Shianna, Michael E. Weale, Lynn F. Cherkas, Gail Clement, Tim D. Spector, Greg Gibson, and David B. Goldstein

A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB
Human Molecular Genetics Advance Access published on September 4, 2009
Hum. Mol. Genet. 2009 18: 4650-4661; doi:10.1093/hmg/ddp413 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Anke Tönjes, Moritz Koriath, Dorit Schleinitz, Kerstin Dietrich, Yvonne Böttcher, Nigel W. Rayner, Peter Almgren, Beate Enigk, Olaf Richter, Silvio Rohm, Antje Fischer-Rosinsky, Andreas Pfeiffer, Katrin Hoffmann, Knut Krohn, Gabriela Aust, Joachim Spranger, Leif Groop, Matthias Blüher, Peter Kovacs, and Michael Stumvoll

Genetic variation in GPR133 is associated with height: genome wide association study in the self-contained population of Sorbs
Human Molecular Genetics Advance Access published on September 3, 2009
Hum. Mol. Genet. 2009 18: 4662-4668; doi:10.1093/hmg/ddp423 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Barbara Kollerits, Stefan Coassin, Noam D. Beckmann, Alexander Teumer, Stefan Kiechl, Angela Döring, Maryam Kavousi, Steven C. Hunt, Claudia Lamina, Bernhard Paulweber, Zoltán Kutalik, Matthias Nauck, Cornelia M. van Duijn, Iris M. Heid, Johann Willeit, Anita Brandstätter, Ted D. Adams, Vincent Mooser, Yurii S. Aulchenko, Henry Völzke, and Florian Kronenberg

Genetic evidence for a role of adiponutrin in the metabolism of apolipoprotein B-containing lipoproteins
Human Molecular Genetics Advance Access published on September 3, 2009
Hum. Mol. Genet. 2009 18: 4669-4676; doi:10.1093/hmg/ddp424 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Aditi Hazra, Peter Kraft, Ross Lazarus, Constance Chen, Stephen J. Chanock, Paul Jacques, Jacob Selhub, and David J. Hunter

Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway
Human Molecular Genetics Advance Access published on September 10, 2009
Hum. Mol. Genet. 2009 18: 4677-4687; doi:10.1093/hmg/ddp428 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

CORRIGENDUM

Jean Deguara, Kevin G. Burnand, Jonathan Berg, Peter Green, Cathryn M. Lewis, Ganesh Chinien, Matthew Waltham, Peter Taylor, Rowena F. Stern, Ellen Solomon, and Alberto Smith

An increased frequency of the 5A allele in the promoter region of the MMP3 gene is associated with abdominal aortic aneurysms
Human Molecular Genetics Advance Access published on October 1, 2009
Hum. Mol. Genet. 2009 18: 4688; doi:10.1093/hmg/ddp439 [Extract] [Full Text] [PDF] [Request Permissions]  

FRONT-MATTER/BACK-MATTER

Cover Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp486 [PDF] [Request Permissions]  

Editorial Board
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp487 [PDF] [Request Permissions]  

Subscription Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp488 [PDF] [Request Permissions]  

Contents Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp485 [PDF] [Request Permissions]  

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