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Contents: Volume 18, Number 2, 15 January 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

Eva Maria Kohler, Shree Harsha Vijaya Chandra, Jürgen Behrens, and Jean Schneikert
β-Catenin degradation mediated by the CID domain of APC provides a model for the selection of APC mutations in colorectal, desmoid and duodenal tumours
Human Molecular Genetics Advance Access published on October 14, 2008
Hum. Mol. Genet. 2009 18: 213-226; doi:10.1093/hmg/ddn338 [Abstract] [Full Text] [PDF] [Request Permissions]  

Takehiko Matsushita, William R. Wilcox, Yuk Yu Chan, Aya Kawanami, Hülya Bükülmez, Gener Balmes, Pavel Krejci, Pertchoui B. Mekikian, Kazuyuki Otani, Isakichi Yamaura, Matthew L. Warman, David Givol, and Shunichi Murakami
FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway
Human Molecular Genetics Advance Access published on October 15, 2008
Hum. Mol. Genet. 2009 18: 227-240; doi:10.1093/hmg/ddn339 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Antoine Muchir, Jian Shan, Gisèle Bonne, Stephan E. Lehnart, and Howard J. Worman
Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins
Human Molecular Genetics Advance Access published on October 16, 2008
Hum. Mol. Genet. 2009 18: 241-247; doi:10.1093/hmg/ddn343 [Abstract] [Full Text] [PDF] [Request Permissions]  

Nichol L.G. Miller, Rachel Wevrick, and Pamela L. Mellon
Necdin, a Prader–Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development
Human Molecular Genetics Advance Access published on October 17, 2008
Hum. Mol. Genet. 2009 18: 248-260; doi:10.1093/hmg/ddn344 [Abstract] [Full Text] [PDF] [Request Permissions]  

Michael J. Chao, Sreeram V. Ramagopalan, Blanca M. Herrera, Matthew R. Lincoln, David A. Dyment, A. Dessa Sadovnick, and George C. Ebers
Epigenetics in multiple sclerosis susceptibility: difference in transgenerational risk localizes to the major histocompatibility complex
Hum. Mol. Genet. 2009 18: 261-266; doi:10.1093/hmg/ddn353 [Abstract] [Full Text] [PDF] [Request Permissions]  

Alistair N. Hume, Jens Buttgereit, Aydah M. Al-Awadhi, Sarah S. Al-Suwaidi, Anne John, Michael Bader, Miguel C. Seabra, Lihadh Al-Gazali, and Bassam R. Ali
Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux
Human Molecular Genetics Advance Access published on October 22, 2008
Hum. Mol. Genet. 2009 18: 267-277; doi:10.1093/hmg/ddn354 [Abstract] [Full Text] [PDF] [Request Permissions]  

Jan Aydin, Daniel C. Andersson, Sandra L. Hänninen, Anna Wredenberg, Pasi Tavi, Chan Bae Park, Nils-Göran Larsson, Joseph D. Bruton, and Håkan Westerblad
Increased mitochondrial Ca2+ and decreased sarcoplasmic reticulum Ca2+ in mitochondrial myopathy
Human Molecular Genetics Advance Access published on October 22, 2008
Hum. Mol. Genet. 2009 18: 278-288; doi:10.1093/hmg/ddn355 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Maria I. Ferrante, Leila Romio, Silvia Castro, John E. Collins, David A. Goulding, Derek L. Stemple, Adrian S. Woolf, and Stephen W. Wilson
Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene
Human Molecular Genetics Advance Access published on October 29, 2008
Hum. Mol. Genet. 2009 18: 289-303; doi:10.1093/hmg/ddn356 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Jan Hauke, Markus Riessland, Sebastian Lunke, Ilker Y. Eyüpoglu, Ingmar Blümcke, Assam El-Osta, Brunhilde Wirth, and Eric Hahnen
Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition
Human Molecular Genetics Advance Access published on October 29, 2008
Hum. Mol. Genet. 2009 18: 304-317; doi:10.1093/hmg/ddn357 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Angela K. Peter, Christopher Y. Ko, Michelle H. Kim, Nigel Hsu, Noriyuki Ouchi, Suhn Rhie, Yasuhiro Izumiya, Ling Zeng, Kenneth Walsh, and Rachelle H. Crosbie
Myogenic Akt signaling upregulates the utrophin–glycoprotein complex and promotes sarcolemma stability in muscular dystrophy
Human Molecular Genetics Advance Access published on November 4, 2008
Hum. Mol. Genet. 2009 18: 318-327; doi:10.1093/hmg/ddn358 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

Steffi Goffart, Helen M. Cooper, Henna Tyynismaa, Sjoerd Wanrooij, Anu Suomalainen, and Johannes N. Spelbrink
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling
Human Molecular Genetics Advance Access published on October 29, 2008
Hum. Mol. Genet. 2009 18: 328-340; doi:10.1093/hmg/ddn359 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   Creative Commons License OPEN ACCESS  

ASSOCIATIONS STUDIES ARTICLES Back

Jose Bras, Javier Simón-Sánchez, Monica Federoff, Ana Morgadinho, Cristina Januario, Maria Ribeiro, Luis Cunha, Catarina Oliveira, and Andrew B. Singleton
Lack of replication of association between GIGYF2 variants and Parkinson disease
Human Molecular Genetics Advance Access published on October 15, 2008
Hum. Mol. Genet. 2009 18: 341-346; doi:10.1093/hmg/ddn340 [Abstract] [Full Text] [PDF] [Request Permissions]  

Mark Eijgelsheim, Adrianus L.H.J. Aarnoudse, Fernando Rivadeneira, Jan A. Kors, Jacqueline C. M. Witteman, Albert Hofman, Cornelia M. van Duijn, André G. Uitterlinden, and Bruno H.C. Stricker
Identification of a common variant at the NOS1AP locus strongly associated to QT-interval duration
Human Molecular Genetics Advance Access published on October 16, 2008
Hum. Mol. Genet. 2009 18: 347-357; doi:10.1093/hmg/ddn341 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Siyang Liu, Hongjie Wang, Yulan Jin, Robert Podolsky, MV Prasad Linga Reddy, Jennifer Pedersen, Bruce Bode, John Reed, Dennis Steed, Steve Anderson, Ping Yang, Andy Muir, Leigh Steed, Diane Hopkins, Yihua Huang, Sharad Purohit, Cong-Yi Wang, Andrea K. Steck, Annalisa Montemari, George Eisenbarth, Marian Rewers, and Jin-Xiong She
IFIH1 polymorphisms are significantly associated with type 1 diabetes and IFIH1 gene expression in peripheral blood mononuclear cells
Human Molecular Genetics Advance Access published on October 16, 2008
Hum. Mol. Genet. 2009 18: 358-365; doi:10.1093/hmg/ddn342 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

R. Stephanie Huang, Peixian Chen, Steve Wisel, Shiwei Duan, Wei Zhang, Edwin H. Cook, Soma Das, Nancy J. Cox, and M. Eileen Dolan
Population-specific GSTM1 copy number variation
Human Molecular Genetics Advance Access published on October 23, 2008
Hum. Mol. Genet. 2009 18: 366-372; doi:10.1093/hmg/ddn345 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Åsa Johansson, Fabio Marroni, Caroline Hayward, Christopher S. Franklin, Anatoly V. Kirichenko, Inger Jonasson, Andrew A. Hicks, Veronique Vitart, Aaron Isaacs, Tatiana Axenovich, Susan Campbell, Malcolm G. Dunlop, Jamie Floyd, Nick Hastie, Albert Hofman, Sara Knott, Ivana Kolcic, Irene Pichler, Ozren Polasek, Fernando Rivadeneira, Albert Tenesa, André G. Uitterlinden, Sarah H. Wild, Irina V. Zorkoltseva, Thomas Meitinger, James F. Wilson, Igor Rudan, Harry Campbell, Cristian Pattaro, Peter Pramstaller, Ben A. Oostra, Alan F. Wright, Cornelia M. van Duijn, Yurii S. Aulchenko, and Ulf Gyllensten on behalf of the EUROSPAN Consortium
Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis
Human Molecular Genetics Advance Access published on October 24, 2008
Hum. Mol. Genet. 2009 18: 373-380; doi:10.1093/hmg/ddn350 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Thorsten Thye, Sergey Nejentsev, Christopher D. Intemann, Edmund N. Browne, Margaret Amanua Chinbuah, John Gyapong, Ivy Osei, Ellis Owusu-Dabo, Lauren R. Zeitels, Florian Herb, Rolf D. Horstmann, and Christian G. Meyer
MCP-1 promoter variant –362C associated with protection from pulmonary tuberculosis in Ghana, West Africa
Human Molecular Genetics Advance Access published on October 20, 2008
Hum. Mol. Genet. 2009 18: 381-388; doi:10.1093/hmg/ddn352 [Abstract] [Full Text] [PDF] [Request Permissions]  

ERRATUM Back

Yong Yu, Po-Yin Chu, David N. Bowser, Damien J. Keating, Daphne Dubach, Ian Harper, Josephine Tkalcevic, David I. Finkelstein, and Melanie A. Pritchard
Mice deficient for the chromosome 21 ortholog Itsn1 exhibit vesicle-trafficking abnormalities
Human Molecular Genetics Advance Access published on November 25, 2008
Hum. Mol. Genet. 2009 18: 389; doi:10.1093/hmg/ddn378 [Extract] [Full Text] [PDF] [Request Permissions]  

FRONT-MATTER/BACK-MATTER Back

Cover Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddn433 [PDF] [Request Permissions]  

Editorial Board
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddn434 [PDF] [Request Permissions]  

Subscription Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddn435 [PDF] [Request Permissions]  

Contents Page
Hum. Mol. Genet. 2009 18: NP; doi:10.1093/hmg/ddn432 [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.