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Previous Next 		Contents: Volume 18, Number 15, 1 August 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

Huilin Jin, Rob J. van't Hof, Omar M.E. Albagha, and Stuart H. Ralston
Promoter and intron 1 polymorphisms of COL1A1 interact to regulate transcription and susceptibility to osteoporosis
Human Molecular Genetics Advance Access published on May 9, 2009
Hum. Mol. Genet. 2009 18: 2729-2738; doi:10.1093/hmg/ddp205 [Abstract] [Full Text] [PDF] [Request Permissions]  

Wail M. Hassan, David A. Merin, Virginia Fonte, and Christopher D. Link
AIP-1 ameliorates β-amyloid peptide toxicity in a Caenorhabditis elegans Alzheimer's disease model
Human Molecular Genetics Advance Access published on May 3, 2009
Hum. Mol. Genet. 2009 18: 2739-2747; doi:10.1093/hmg/ddp209 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Ruishuang Geng, Scott F. Geller, Toshinori Hayashi, Catherine A. Ray, Thomas A. Reh, Olivia Bermingham-McDonogh, Sherri M. Jones, Charles G. Wright, Sami Melki, Yoshikazu Imanishi, Krzysztof Palczewski, Kumar N. Alagramam, and John G. Flannery
Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation
Human Molecular Genetics Advance Access published on May 3, 2009
Hum. Mol. Genet. 2009 18: 2748-2760; doi:10.1093/hmg/ddp210 [Abstract] [Full Text] [PDF] [Request Permissions]  

Christian Opherk, Marco Duering, Nils Peters, Anna Karpinska, Stefanie Rosner, Elisabeth Schneider, Benedikt Bader, Armin Giese, and Martin Dichgans
CADASIL mutations enhance spontaneous multimerization of NOTCH3
Human Molecular Genetics Advance Access published on May 5, 2009
Hum. Mol. Genet. 2009 18: 2761-2767; doi:10.1093/hmg/ddp211 [Abstract] [Full Text] [PDF] [Request Permissions]  

Audrey Sabbagh, Eric Pasmant, Ingrid Laurendeau, Béatrice Parfait, Sébastien Barbarot, Bernard Guillot, Patrick Combemale, Salah Ferkal, Michel Vidaud, Patrick Aubourg, Dominique Vidaud, and Pierre Wolkenstein and the members of the NF France Network
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1
Human Molecular Genetics Advance Access published on May 5, 2009
Hum. Mol. Genet. 2009 18: 2768-2778; doi:10.1093/hmg/ddp212 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Paulina Heidrych, Ulrike Zimmermann, Stephanie Kuhn, Christoph Franz, Jutta Engel, Susanne V. Duncker, Bernhard Hirt, Carsten M. Pusch, Peter Ruth, Markus Pfister, Walter Marcotti, Nikolaus Blin, and Marlies Knipper
Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell
Human Molecular Genetics Advance Access published on May 5, 2009
Hum. Mol. Genet. 2009 18: 2779-2790; doi:10.1093/hmg/ddp213 [Abstract] [Full Text] [PDF] [Request Permissions]  

Zheng Huang, Degang Wang, Kaori Ihida-Stansbury, Peter Lloyd Jones, and James F. Martin
Defective pulmonary vascular remodeling in Smad8 mutant mice
Human Molecular Genetics Advance Access published on May 5, 2009
Hum. Mol. Genet. 2009 18: 2791-2801; doi:10.1093/hmg/ddp214 [Abstract] [Full Text] [PDF] [Request Permissions]  

Satu Massinen, Kristiina Tammimies, Isabel Tapia-Páez, Hans Matsson, Marie-Estelle Hokkanen, Ola Söderberg, Ulf Landegren, Eero Castrén, Jan-Åke Gustafsson, Eckardt Treuter, and Juha Kere
Functional interaction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia
Human Molecular Genetics Advance Access published on May 7, 2009
Hum. Mol. Genet. 2009 18: 2802-2812; doi:10.1093/hmg/ddp215 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Pradeep Reddy, Deepak Adhikari, Wenjing Zheng, Shawn Liang, Tuula Hämäläinen, Virpi Tohonen, Wataru Ogawa, Tetsuo Noda, Sinisa Volarevic, Ilpo Huhtaniemi, and Kui Liu
PDK1 signaling in oocytes controls reproductive aging and lifespan by manipulating the survival of primordial follicles
Human Molecular Genetics Advance Access published on May 7, 2009
Hum. Mol. Genet. 2009 18: 2813-2824; doi:10.1093/hmg/ddp217 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Bina Joe, Yasser Saad, Norman H. Lee, Bryan C. Frank, Ovokeraye H. Achinike, Truong V. Luu, Kathirvel Gopalakrishnan, Edward J. Toland, Phyllis Farms, Shane Yerga-Woolwine, Ezhilarasi Manickavasagam, John P. Rapp, Michael R. Garrett, David Coe, Suneel S. Apte, Tuomo Rankinen, Louis Pérusse, Georg B. Ehret, Santhi K. Ganesh, Richard S. Cooper, Ashley O'Connor, Treva Rice, Alan B. Weder, Aravinda Chakravarti, Dabeeru C. Rao, and Claude Bouchard
Positional identification of variants of Adamts16 linked to inherited hypertension
Human Molecular Genetics Advance Access published on May 7, 2009
Hum. Mol. Genet. 2009 18: 2825-2838; doi:10.1093/hmg/ddp218 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Meredith Downes, Mathias François, Charles Ferguson, Robert G. Parton, and Peter Koopman
Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation
Human Molecular Genetics Advance Access published on May 9, 2009
Hum. Mol. Genet. 2009 18: 2839-2850; doi:10.1093/hmg/ddp219 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Glenn P. Lobo, Kristin A. Waite, Sarah M. Planchon, Todd Romigh, Najah T. Nassif, and Charis Eng
Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function
Human Molecular Genetics Advance Access published on May 20, 2009
Hum. Mol. Genet. 2009 18: 2851-2862; doi:10.1093/hmg/ddp220 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Ying Wang, Jay C. Groppe, Jingfeng Wu, Takuya Ogawa, Gabriele Mues, Rena N. D'Souza, and Hitesh Kapadia
Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9
Human Molecular Genetics Advance Access published on May 9, 2009
Hum. Mol. Genet. 2009 18: 2863-2874; doi:10.1093/hmg/ddp221 [Abstract] [Full Text] [PDF] [Request Permissions]  

Leah K. Hutnick, Peyman Golshani, Masakasu Namihira, Zhigang Xue, Anna Matynia, X. William Yang, Alcino J. Silva, Felix E. Schweizer, and Guoping Fan
DNA hypomethylation restricted to the murine forebrain induces cortical degeneration and impairs postnatal neuronal maturation
Human Molecular Genetics Advance Access published on May 10, 2009
Hum. Mol. Genet. 2009 18: 2875-2888; doi:10.1093/hmg/ddp222 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Roza Kucharczyk, Bénédicte Salin, and J.-P. di Rago
Introducing the human Leigh syndrome mutation T9176G into Saccharomyces cerevisiae mitochondrial DNA leads to severe defects in the incorporation of Atp6p into the ATP synthase and in the mitochondrial morphology
Human Molecular Genetics Advance Access published on May 18, 2009
Hum. Mol. Genet. 2009 18: 2889-2898; doi:10.1093/hmg/ddp226 [Abstract] [Full Text] [PDF] [Request Permissions]  

Radoslaw Dobrowolski, Gerda Hertig, Hildegard Lechner, Philipp Wörsdörfer, Volker Wulf, Nikolai Dicke, Dawid Eckert, Reinhard Bauer, Hubert Schorle, and Klaus Willecke
Loss of connexin43-mediated gap junctional coupling in the mesenchyme of limb buds leads to altered expression of morphogens in mice
Human Molecular Genetics Advance Access published on May 12, 2009
Hum. Mol. Genet. 2009 18: 2899-2911; doi:10.1093/hmg/ddp227 [Abstract] [Full Text] [PDF] [Request Permissions]  

Helena Kilpinen, Tero Ylisaukko-oja, Karola Rehnström, Emilia Gaál, Joni A. Turunen, Elli Kempas, Lennart von Wendt, Teppo Varilo, and Leena Peltonen
Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland
Human Molecular Genetics Advance Access published on May 19, 2009
Hum. Mol. Genet. 2009 18: 2912-2921; doi:10.1093/hmg/ddp229 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

ASSOCIATION STUDIES ARTICLE Back

Rachel M. Freathy, Susan M. Ring, Beverley Shields, Bruna Galobardes, Beatrice Knight, Michael N. Weedon, George Davey Smith, Timothy M. Frayling, and Andrew T. Hattersley
A common genetic variant in the 15q24 nicotinic acetylcholine receptor gene cluster (CHRNA5–CHRNA3–CHRNB4) is associated with a reduced ability of women to quit smoking in pregnancy
Human Molecular Genetics Advance Access published on May 9, 2009
Hum. Mol. Genet. 2009 18: 2922-2927; doi:10.1093/hmg/ddp216 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

CORRIGENDUM Back

Lydia Quaye, Dimitra Dafou, Susan J. Ramus, Honglin Song, Aleksandra Gentry-Maharaj, Maria Notaridou, Estrid Hogdall, Susanne Kruger Kjaer, Lise Christensen, Claus Hogdall, Douglas F. Easton, Ian Jacobs, Usha Menon, Paul D.P. Pharoah, and Simon A. Gayther
Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival
Human Molecular Genetics Advance Access published on May 29, 2009
Hum. Mol. Genet. 2009 18: 2928; doi:10.1093/hmg/ddp234 [Extract] [Full Text] [PDF] [Request Permissions]  

FRONT-MATTER/BACK-MATTER Back

Cover Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp268 [PDF] [Request Permissions]  

Editorial Board
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp269 [PDF] [Request Permissions]  

Subscription Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp270 [PDF] [Request Permissions]  

Contents Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddp267 [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.