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Contents: Volume 16, Number 20, 15 October 2007   [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

Christine C. Stichel, Xin-Ran Zhu, Verian Bader, Bettina Linnartz, Saskia Schmidt, and Hermann Lübbert
Mono- and double-mutant mouse models of Parkinson's disease display severe mitochondrial damage
Human Molecular Genetics Advance Access published on April 5, 2007
Hum. Mol. Genet. 2007 16: 2377-2393; doi:10.1093/hmg/ddm083 [Abstract] [Full Text] [PDF] [Request Permissions]  

Svetlana Gorokhova, Stéphanie Bibert, Käthi Geering, and Nathaniel Heintz
A novel family of transmembrane proteins interacting with ß subunits of the Na,K-ATPase
Human Molecular Genetics Advance Access published on July 2, 2007
Hum. Mol. Genet. 2007 16: 2394-2410; doi:10.1093/hmg/ddm167 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Li Fu, Donita Garland, Zhenglin Yang, Dhananjay Shukla, Anand Rajendran, Erik Pearson, Edwin M. Stone, Kang Zhang, and Eric A. Pierce
The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice
Human Molecular Genetics Advance Access published on July 30, 2007
Hum. Mol. Genet. 2007 16: 2411-2422; doi:10.1093/hmg/ddm198 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Lihua Y. Marmorstein, Precious J. McLaughlin, Neal S. Peachey, Takako Sasaki, and Alan D. Marmorstein
Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration
Human Molecular Genetics Advance Access published on July 30, 2007
Hum. Mol. Genet. 2007 16: 2423-2432; doi:10.1093/hmg/ddm199 [Abstract] [Full Text] [PDF] [Request Permissions]  

Guang-Hua Peng and Shiming Chen
Crx activates opsin transcription by recruiting HAT-containing co-activators and promoting histone acetylation
Human Molecular Genetics Advance Access published on July 26, 2007
Hum. Mol. Genet. 2007 16: 2433-2452; doi:10.1093/hmg/ddm200 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Hariyadarshi Pannu, Van Tran-Fadulu, Christina L. Papke, Steve Scherer, Yaozhong Liu, Caroline Presley, Dongchuan Guo, Anthony L. Estrera, Hazim J. Safi, Allan R. Brasier, G. Wesley Vick, A.J. Marian, C.S. Raman, L. Maximilian Buja, and Dianna M. Milewicz
MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II
Human Molecular Genetics Advance Access published on July 31, 2007
Hum. Mol. Genet. 2007 16: 2453-2462; doi:10.1093/hmg/ddm201 [Abstract] [Full Text] [PDF] [Request Permissions]  

E. Warwick Daw, Suet Nee Chen, Grazyna Czernuszewicz, Raffaella Lombardi, Yue Lu, Jianzhong Ma, Robert Roberts, Sanjay Shete, and Ali J. Marian
Genome-wide mapping of modifier chromosomal loci for human hypertrophic cardiomyopathy
Human Molecular Genetics Advance Access published on July 25, 2007
Hum. Mol. Genet. 2007 16: 2463-2471; doi:10.1093/hmg/ddm202 [Abstract] [Full Text] [PDF] [Request Permissions]  

George M.C. Janssen, Paul J. Hensbergen, Frans J. van Bussel, Crina I.A. Balog, J. Antonie Maassen, André M. Deelder, and Anton K. Raap
The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons
Human Molecular Genetics Advance Access published on July 25, 2007
Hum. Mol. Genet. 2007 16: 2472-2481; doi:10.1093/hmg/ddm203 [Abstract] [Full Text] [PDF] [Request Permissions]  

Cheryl Y. Gregory-Evans, Mariya Moosajee, Matthew D. Hodges, Donna S. Mackay, Laurence Game, Neil Vargesson, Agnès Bloch-Zupan, Franz Rüschendorf, Lourdes Santos-Pinto, Georges Wackens, and Kevin Gregory-Evans
SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma
Human Molecular Genetics Advance Access published on July 25, 2007
Hum. Mol. Genet. 2007 16: 2482-2493; doi:10.1093/hmg/ddm204 [Abstract] [Full Text] [PDF] [Request Permissions]  

Yasuhito Nannya, Kenjiro Taura, Mineo Kurokawa, Shigeru Chiba, and Seishi Ogawa
Evaluation of genome-wide power of genetic association studies based on empirical data from the HapMap project
Human Molecular Genetics Advance Access published on July 31, 2007
Hum. Mol. Genet. 2007 16: 2494-2505; doi:10.1093/hmg/ddm205 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Viive M. Howell, Julie M. Jones, Sarah K. Bergren, Li Li, Allison C. Billi, Matthew R. Avenarius, and Miriam H. Meisler
Evidence for a direct role of the disease modifier SCNM1 in splicing
Human Molecular Genetics Advance Access published on July 26, 2007
Hum. Mol. Genet. 2007 16: 2506-2516; doi:10.1093/hmg/ddm206 [Abstract] [FREE Full Text] [PDF]   OPEN ACCESS ARTICLE  

Outi M. Palo, Mervi Antila, Kaisa Silander, William Hennah, Helena Kilpinen, Pia Soronen, Annamari Tuulio-Henriksson, Tuula Kieseppä, Timo Partonen, Jouko Lönnqvist, Leena Peltonen, and Tiina Paunio
Association of distinct allelic haplotypes of DISC1 with psychotic and bipolar spectrum disorders and with underlying cognitive impairments
Human Molecular Genetics Advance Access published on August 2, 2007
Hum. Mol. Genet. 2007 16: 2517-2528; doi:10.1093/hmg/ddm207 [Abstract] [Full Text] [PDF] [Supplementary Data] [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.