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Contents: Volume 15, Number 11, 1 June 2006   [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

Linda Schaeffer, Henning Gohlke, Martina Müller, Iris M. Heid, Lyle J. Palmer, Iris Kompauer, Hans Demmelmair, Thomas Illig, Berthold Koletzko, and Joachim Heinrich
Common genetic variants of the FADS1 FADS2 gene cluster and their reconstructed haplotypes are associated with the fatty acid composition in phospholipids
Human Molecular Genetics Advance Access published on May 2, 2006
Hum. Mol. Genet. 2006 15: 1745-1756; doi:10.1093/hmg/ddl117 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Janine Hertzog Santos, Joel N. Meyer, and Bennett Van Houten
Mitochondrial localization of telomerase as a determinant for hydrogen peroxide-induced mitochondrial DNA damage and apoptosis
Human Molecular Genetics Advance Access published on April 13, 2006
Hum. Mol. Genet. 2006 15: 1757-1768; doi:10.1093/hmg/ddl098 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jinglan Liu and Uta Francke
Identification of cis-regulatory elements for MECP2 expression
Human Molecular Genetics Advance Access published on April 13, 2006
Hum. Mol. Genet. 2006 15: 1769-1782; doi:10.1093/hmg/ddl099 [Abstract] [FREE Full Text] [PDF] [Supplementary Data] [Request Permissions]  

G. Valverde-Franco, J.S. Binette, W. Li, H. Wang, S. Chai, F. Laflamme, N. Tran-Khanh, E. Quenneville, T. Meijers, A.R. Poole, J.S. Mort, M.D. Buschmann, and J.E. Henderson
Defects in articular cartilage metabolism and early arthritis in fibroblast growth factor receptor 3 deficient mice
Human Molecular Genetics Advance Access published on April 19, 2006
Hum. Mol. Genet. 2006 15: 1783-1792; doi:10.1093/hmg/ddl100 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Peter Proks, Amanda L. Arnold, Jan Bruining, Christophe Girard, Sarah E. Flanagan, Brian Larkin, Kevin Colclough, Andrew T. Hattersley, Frances M. Ashcroft, and Sian Ellard
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes
Human Molecular Genetics Advance Access published on April 13, 2006
Hum. Mol. Genet. 2006 15: 1793-1800; doi:10.1093/hmg/ddl101 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Shin-Ichi Inoue, Kaori Ishikawa, Kazuto Nakada, Akitsugu Sato, Hiroyuki Miyoshi, and Jun-Ichi Hayashi
Suppression of disease phenotypes of adult mito-mice carrying pathogenic mtDNA by bone marrow transplantation
Human Molecular Genetics Advance Access published on April 13, 2006
Hum. Mol. Genet. 2006 15: 1801-1807; doi:10.1093/hmg/ddl102 [Abstract] [FREE Full Text] [PDF]   OPEN ACCESS ARTICLE  

Jamie M. Margolis, Benedikt G. Schoser, Melinda L. Moseley, John W. Day, and Laura P.W. Ranum
DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression
Human Molecular Genetics Advance Access published on April 19, 2006
Hum. Mol. Genet. 2006 15: 1808-1815; doi:10.1093/hmg/ddl103 [Abstract] [FREE Full Text] [PDF]   OPEN ACCESS ARTICLE  

Beisha Tang, Hui Xiong, Ping Sun, Yuhu Zhang, Danling Wang, Zhengmao Hu, Zanhua Zhu, Hong Ma, Qian Pan, Jia-hui Xia, Kun Xia, and Zhuohua Zhang
Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease
Human Molecular Genetics Advance Access published on April 21, 2006
Hum. Mol. Genet. 2006 15: 1816-1825; doi:10.1093/hmg/ddl104 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sung-Jo Kim, Zhongjian Zhang, Emiko Hitomi, Yi-Ching Lee, and Anil B. Mukherjee
Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL
Human Molecular Genetics Advance Access published on April 27, 2006
Hum. Mol. Genet. 2006 15: 1826-1834; doi:10.1093/hmg/ddl105 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Hana Antonicka, Florin Sasarman, Nancy G. Kennaway, and Eric A. Shoubridge
The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1
Human Molecular Genetics Advance Access published on April 21, 2006
Hum. Mol. Genet. 2006 15: 1835-1846; doi:10.1093/hmg/ddl106 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Bo Chang, Hemant Khanna, Norman Hawes, David Jimeno, Shirley He, Concepcion Lillo, Sunil K. Parapuram, Hong Cheng, Alison Scott, Ron E. Hurd, John A. Sayer, Edgar A. Otto, Massimo Attanasio, John F. O'Toole, Genglin Jin, Chengchao Shou, Friedhelm Hildebrandt, David S. Williams, John R. Heckenlively, and Anand Swaroop
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
Human Molecular Genetics Advance Access published on April 21, 2006
Hum. Mol. Genet. 2006 15: 1847-1857; doi:10.1093/hmg/ddl107 [Abstract] [FREE Full Text] [PDF] [Supplementary Material]   OPEN ACCESS ARTICLE  

Amy M. Munchhof, Fang Li, Hilary A. White, Laura E. Mead, Theresa R. Krier, Amy Fenoglio, Xiaohong Li, Jin Yuan, Feng-Chun Yang, and David A. Ingram
Neurofibroma-associated growth factors activate a distinct signaling network to alter the function of neurofibromin-deficient endothelial cells
Human Molecular Genetics Advance Access published on April 28, 2006
Hum. Mol. Genet. 2006 15: 1858-1869; doi:10.1093/hmg/ddl108 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Haijing Yu, Huifeng Jiang, Qi Zhou, Jufen Yang, Yina Cun, Bing Su, Chunjie Xiao, and Wen Wang
Origination and evolution of a human-specific transmembrane protein gene, c1orf37-dup
Human Molecular Genetics Advance Access published on April 27, 2006
Hum. Mol. Genet. 2006 15: 1870-1875; doi:10.1093/hmg/ddl109 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Monzy Thomas, Jennifer M. Harrell, Yoshihiro Morishima, Hwei-Ming Peng, William B. Pratt, and Andrew P. Lieberman
Pharmacologic and genetic inhibition of hsp90-dependent trafficking reduces aggregation and promotes degradation of the expanded glutamine androgen receptor without stress protein induction
Human Molecular Genetics Advance Access published on April 27, 2006
Hum. Mol. Genet. 2006 15: 1876-1883; doi:10.1093/hmg/ddl110 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

David J. Lloyd, Sandy Bohan, and Nicholas Gekakis
Obesity, hyperphagia and increased metabolic efficiency in Pc1 mutant mice
Human Molecular Genetics Advance Access published on April 27, 2006
Hum. Mol. Genet. 2006 15: 1884-1893; doi:10.1093/hmg/ddl111 [Abstract] [FREE Full Text] [PDF]   OPEN ACCESS ARTICLE  

Lyle Armstrong, Owen Hughes, Sun Yung, Louise Hyslop, Rebecca Stewart, Ilka Wappler, Heiko Peters, Theresia Walter, Petra Stojkovic, Jerome Evans, Miodrag Stojkovic, and Majlinda Lako
The role of PI3K/AKT, MAPK/ERK and NF{kappa}ß signalling in the maintenance of human embryonic stem cell pluripotency and viability highlighted by transcriptional profiling and functional analysis
Human Molecular Genetics Advance Access published on April 27, 2006
Hum. Mol. Genet. 2006 15: 1894-1913; doi:10.1093/hmg/ddl112 [Abstract] [FREE Full Text] [PDF] [Supplementary Material]   OPEN ACCESS ARTICLE  

Lu Qi, Rob M. van Dam, James B. Meigs, JoAnn E. Manson, David Hunter, and Frank B. Hu
Genetic variation in IL6 gene and type 2 diabetes: tagging-SNP haplotype analysis in large-scale case–control study and meta-analysis
Human Molecular Genetics Advance Access published on April 27, 2006
Hum. Mol. Genet. 2006 15: 1914-1920; doi:10.1093/hmg/ddl113 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Fang Li, Amy M. Munchhof, Hilary A. White, Laura E. Mead, Theresa R. Krier, Amy Fenoglio, Shi Chen, Xiaohua Wu, Shanbao Cai, Feng-Chun Yang, and David A. Ingram
Neurofibromin is a novel regulator of RAS-induced signals in primary vascular smooth muscle cells
Human Molecular Genetics Advance Access published on April 27, 2006
Hum. Mol. Genet. 2006 15: 1921-1930; doi:10.1093/hmg/ddl114 [Abstract] [FREE Full Text] [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.