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Previous Next 		Contents: Volume 18, Number 14, 15 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

Ayumi Takakura, Leah Contrino, Xiangzhi Zhou, Joseph V. Bonventre, Yanping Sun, Benjamin D. Humphreys, and Jing Zhou
Renal injury is a third hit promoting rapid development of adult polycystic kidney disease
Human Molecular Genetics Advance Access published on April 2, 2009
Hum. Mol. Genet. 2009 18: 2523-2531; doi:10.1093/hmg/ddp147 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Hester Happé, Wouter N. Leonhard, Annemieke van der Wal, Bob van de Water, Irma S. Lantinga-van Leeuwen, Martijn H. Breuning, Emile de Heer, and Dorien J.M. Peters
Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathways
Human Molecular Genetics Advance Access published on April 28, 2009
Hum. Mol. Genet. 2009 18: 2532-2542; doi:10.1093/hmg/ddp190 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Corina Anastasaki, Anne L. Estep, Richard Marais, Katherine A. Rauen, and E. Elizabeth Patton
Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors
Human Molecular Genetics Advance Access published on April 17, 2009
Hum. Mol. Genet. 2009 18: 2543-2554; doi:10.1093/hmg/ddp186 [Abstract] [FREE Full Text] [PDF]   Creative Commons License OPEN ACCESS  

Francesca Antonacci, Jeffrey M. Kidd, Tomas Marques-Bonet, Mario Ventura, Priscillia Siswara, Zhaoshi Jiang, and Evan E. Eichler
Characterization of six human disease-associated inversion polymorphisms
Human Molecular Genetics Advance Access published on April 21, 2009
Hum. Mol. Genet. 2009 18: 2555-2566; doi:10.1093/hmg/ddp187 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Jae Hyun Lee, Jedidiah Gaetz, Branimir Bugarija, Croydon J. Fernandes, Gregory E. Snyder, Eliot C. Bush, and Bruce T. Lahn
Chromatin analysis of occluded genes
Human Molecular Genetics Advance Access published on April 20, 2009
Hum. Mol. Genet. 2009 18: 2567-2574; doi:10.1093/hmg/ddp188 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Malik Khelfaoui, Alice Pavlowsky, Andrew D. Powell, Pamela Valnegri, Kenneth W. Cheong, Yann Blandin, Maria Passafaro, John G.R. Jefferys, Jamel Chelly, and Pierre Billuart
Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardation
Human Molecular Genetics Advance Access published on April 28, 2009
Hum. Mol. Genet. 2009 18: 2575-2583; doi:10.1093/hmg/ddp189 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Hong Li, Ashwani Mittal, Denys Y. Makonchuk, Shephali Bhatnagar, and Ashok Kumar
Matrix metalloproteinase-9 inhibition ameliorates pathogenesis and improves skeletal muscle regeneration in muscular dystrophy
Human Molecular Genetics Advance Access published on April 28, 2009
Hum. Mol. Genet. 2009 18: 2584-2598; doi:10.1093/hmg/ddp191 [Abstract] [Full Text] [PDF] [Request Permissions]  

Salomé S. Pinho, Celso A. Reis, Joana Paredes, Ana Maria Magalhães, António Carlos Ferreira, Joana Figueiredo, Wen Xiaogang, Fátima Carneiro, Fátima Gärtner, and Raquel Seruca
The role of N-acetylglucosaminyltransferase III and V in the post-transcriptional modifications of E-cadherin
Human Molecular Genetics Advance Access published on April 29, 2009
Hum. Mol. Genet. 2009 18: 2599-2608; doi:10.1093/hmg/ddp194 [Abstract] [Full Text] [PDF] [Request Permissions]  

Sara Ota, Zi-Qiang Zhou, Jason M. Link, and Peter J. Hurlin
The role of senescence and prosurvival signaling in controlling the oncogenic activity of FGFR2 mutants associated with cancer and birth defects
Human Molecular Genetics Advance Access published on April 29, 2009
Hum. Mol. Genet. 2009 18: 2609-2621; doi:10.1093/hmg/ddp195 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Yan Liu, Yin Wang, Cindy Wu, Yang Liu, and Pan Zheng
Deletions and missense mutations of EPM2A exacerbate unfolded protein response and apoptosis of neuronal cells induced by endoplasm reticulum stress
Human Molecular Genetics Advance Access published on April 29, 2009
Hum. Mol. Genet. 2009 18: 2622-2631; doi:10.1093/hmg/ddp196 [Abstract] [Full Text] [PDF] [Request Permissions]  

Rebecca J. Richardson, Jill Dixon, Rulang Jiang, and Michael J. Dixon
Integration of IRF6 and Jagged2 signalling is essential for controlling palatal adhesion and fusion competence
Human Molecular Genetics Advance Access published on May 13, 2009
Hum. Mol. Genet. 2009 18: 2632-2642; doi:10.1093/hmg/ddp201 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Margherita Coccia, Simon P. Brooks, Tom R. Webb, Katja Christodoulou, Izabella O. Wozniak, Victoria Murday, Martha Balicki, Harris A. Yee, Teresia Wangensteen, Ruth Riise, Anand K. Saggar, Soo-Mi Park, Naheed Kanuga, Peter J. Francis, Eamonn R. Maher, Anthony T. Moore, Isabelle M. Russell-Eggitt, and Alison J. Hardcastle
X-linked cataract and Nance-Horan syndrome are allelic disorders
Human Molecular Genetics Advance Access published on May 4, 2009
Hum. Mol. Genet. 2009 18: 2643-2655; doi:10.1093/hmg/ddp206 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Ivan Y. Iourov, Svetlana G. Vorsanova, Thomas Liehr, Alexei D. Kolotii, and Yuri B. Yurov
Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain
Human Molecular Genetics Advance Access published on May 4, 2009
Hum. Mol. Genet. 2009 18: 2656-2669; doi:10.1093/hmg/ddp207 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Justin Cotney, Sharen E. McKay, and Gerald S. Shadel
Elucidation of separate, but collaborative functions of the rRNA methyltransferase-related human mitochondrial transcription factors B1 and B2 in mitochondrial biogenesis reveals new insight into maternally inherited deafness
Human Molecular Genetics Advance Access published on May 5, 2009
Hum. Mol. Genet. 2009 18: 2670-2682; doi:10.1093/hmg/ddp208 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

ASSOCIATION STUDIES ARTICLES Back

Andrew E. Fry, Anita Ghansa, Kerrin S. Small, Alejandro Palma, Sarah Auburn, Mahamadou Diakite, Angela Green, Susana Campino, Yik Y. Teo, Taane G. Clark, Anna E. Jeffreys, Jonathan Wilson, Muminatou Jallow, Fatou Sisay-Joof, Margaret Pinder, Michael J. Griffiths, Norbert Peshu, Thomas N. Williams, Charles R. Newton, Kevin Marsh, Malcolm E. Molyneux, Terrie E. Taylor, Kwadwo A. Koram, Abraham R. Oduro, William O. Rogers, Kirk A. Rockett, Pardis C. Sabeti, and Dominic P. Kwiatkowski
Positive selection of a CD36 nonsense variant in sub-Saharan Africa, but no association with severe malaria phenotypes
Human Molecular Genetics Advance Access published on April 29, 2009
Hum. Mol. Genet. 2009 18: 2683-2692; doi:10.1093/hmg/ddp192 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Gisela Orozco, Anne Hinks, Steve Eyre, Xiayi Ke, Laura J. Gibbons, John Bowes, Edward Flynn, Paul Martin, Wellcome Trust Case Control Consortium, YEAR consortium, Anthony G. Wilson, Deborah E. Bax, Ann W. Morgan, Paul Emery, Sophia Steer, Lynne Hocking, David M. Reid, Paul Wordsworth, Pille Harrison, Wendy Thomson, Anne Barton, and Jane Worthington
Combined effects of three independent SNPs greatly increase the risk estimate for RA at 6q23
Human Molecular Genetics Advance Access published on May 5, 2009
Hum. Mol. Genet. 2009 18: 2693-2699; doi:10.1093/hmg/ddp193 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Andrew D. Johnson, Maryam Kavousi, Albert V. Smith, Ming-Huei Chen, Abbas Dehghan, Thor Aspelund, Jing-Ping Lin, Cornelia M. van Duijn, Tamara B. Harris, L. Adrienne Cupples, Andre G. Uitterlinden, Lenore Launer, Albert Hofman, Fernando Rivadeneira, Bruno Stricker, Qiong Yang, Christopher J. O'Donnell, Vilmundur Gudnason, and Jacqueline C. Witteman
Genome-wide association meta-analysis for total serum bilirubin levels
Human Molecular Genetics Advance Access published on May 4, 2009
Hum. Mol. Genet. 2009 18: 2700-2710; doi:10.1093/hmg/ddp202 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Serena Sanna, Fabio Busonero, Andrea Maschio, Patrick F. McArdle, Gianluca Usala, Mariano Dei, Sandra Lai, Antonella Mulas, Maria Grazia Piras, Lucia Perseu, Marco Masala, Mara Marongiu, Laura Crisponi, Silvia Naitza, Renzo Galanello, Gonçalo R. Abecasis, Alan R. Shuldiner, David Schlessinger, Antonio Cao, and Manuela Uda
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia
Human Molecular Genetics Advance Access published on May 6, 2009
Hum. Mol. Genet. 2009 18: 2711-2718; doi:10.1093/hmg/ddp203 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Johannes Schumacher, Gonzalo Laje, Rami Abou Jamra, Tim Becker, Thomas W. Mühleisen, Catalina Vasilescu, Manuel Mattheisen, Stefan Herms, Per Hoffmann, Axel M. Hillmer, Alexander Georgi, Christine Herold, Thomas G. Schulze, Peter Propping, Marcella Rietschel, Francis J. McMahon, Markus M. Nöthen, and Sven Cichon
The DISC locus and schizophrenia: evidence from an association study in a central European sample and from a meta-analysis across different European populations
Human Molecular Genetics Advance Access published on May 4, 2009
Hum. Mol. Genet. 2009 18: 2719-2727; doi:10.1093/hmg/ddp204 [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/ddp245 [PDF] [Request Permissions]  

Editorial Board
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp246 [PDF] [Request Permissions]  

Subscription Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp247 [PDF] [Request Permissions]  

Contents Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp244 [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.