Human Molecular Genetics

ARTICLES:

Zoia Muresan and Virgil Muresan

A phosphorylated, carboxy-terminal fragment of ß-amyloid precursor protein localizes to the splicing factor compartment
Human Molecular Genetics Advance Access published on January 13, 2004
Hum. Mol. Genet. 2004 13: 475-488; doi:10.1093/hmg/ddh054 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Patrick D. Evans, Jeffrey R. Anderson, Eric J. Vallender, Sandra L. Gilbert, Christine M. Malcom, Steve Dorus, and Bruce T. Lahn

Adaptive evolution of ASPM, a major determinant of cerebral cortical size in humans
Human Molecular Genetics Advance Access published on January 13, 2004
Hum. Mol. Genet. 2004 13: 489-494; doi:10.1093/hmg/ddh055 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Yoshihiro Kino, Daisuke Mori, Yoko Oma, Yuya Takeshita, Noboru Sasagawa, and Shoichi Ishiura

Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats
Human Molecular Genetics Advance Access published on January 13, 2004
Hum. Mol. Genet. 2004 13: 495-507; doi:10.1093/hmg/ddh056 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Peter Stoilov, Rosette Daoud, Oliver Nayler, and Stefan Stamm

Human tra2-beta1 autoregulates its protein concentration by influencing alternative splicing of its pre-mRNA
Human Molecular Genetics Advance Access published on January 6, 2004
Hum. Mol. Genet. 2004 13: 509-524; doi:10.1093/hmg/ddh051 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Artur V. Cideciyan, Tomas S. Aleman, Malgorzata Swider, Sharon B. Schwartz, Janet D. Steinberg, Alexander J. Brucker, Albert M. Maguire, Jean Bennett, Edwin M. Stone, and Samuel G. Jacobson

Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence
Human Molecular Genetics Advance Access published on January 6, 2004
Hum. Mol. Genet. 2004 13: 525-534; doi:10.1093/hmg/ddh048 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Claudia E. Grubenmann, Christian G. Frank, Andreas J. Hülsmeier, Els Schollen, Gert Matthijs, Ertan Mayatepek, Eric G. Berger, Markus Aebi, and Thierry Hennet

Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik
Human Molecular Genetics Advance Access published on January 6, 2004
Hum. Mol. Genet. 2004 13: 535-542; doi:10.1093/hmg/ddh050 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Alexandra Beilina, Flora Tassone, Philip H. Schwartz, Parminder Sahota, and Paul J. Hagerman

Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element
Human Molecular Genetics Advance Access published on January 13, 2004
Hum. Mol. Genet. 2004 13: 543-549; doi:10.1093/hmg/ddh053 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Tomoko Toyota, Kiyoshi Yoshitsugu, Mitsuru Ebihara, Kazuo Yamada, Hisako Ohba, Masayuki Fukasawa, Yoshio Minabe, Kazuhiko Nakamura, Yoshimoto Sekine, Noriyoshi Takei, Katsuaki Suzuki, Masanari Itokawa, Joanne M.A. Meerabux, Yoshimi Iwayama-Shigeno, Yoshiro Tomaru, Hiromitsu Shimizu, Eiji Hattori, Norio Mori, and Takeo Yoshikawa

Association between schizophrenia with ocular misalignment and polyalanine length variation in PMX2B
Human Molecular Genetics Advance Access published on January 6, 2004
Hum. Mol. Genet. 2004 13: 551-561; doi:10.1093/hmg/ddh047 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Fudi Wang, Byung-Eun Kim, Jodi Dufner-Beattie, Michael J. Petris, Glen Andrews, and David J. Eide

Acrodermatitis enteropathica mutations affect transport activity, localization and zinc-responsive trafficking of the mouse ZIP4 zinc transporter
Human Molecular Genetics Advance Access published on January 6, 2004
Hum. Mol. Genet. 2004 13: 563-571; doi:10.1093/hmg/ddh049 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Corrigenda:

Yi-Ju Li, Sofia A. Oliveira, Puting Xu, Eden R. Martin, Judith E. Stenger, Christine Hulette, Clemens R. Scherzer, Michael A. Hauser, William K. Scott, Gary W. Small, Martha A. Nance, Ray L. Watts, Jean P. Hubble, William C. Koller, Rajesh Pahwa, Matthew B. Stern, Bradley C. Hiner, Joseph Jankovic, Christopher G. Goetz, Frank Mastaglia, Lefkos T. Middleton, Allen D. Roses, Ann M. Saunders, Kathleen A. Welsh-Bohmer, Donald E. Schmechel, Steven R. Gullans, Jonathan L. Haines, John R. Gilbert, Jeffery M. Vance, and Margaret A. Pericak-Vance

Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease
Hum. Mol. Genet. 2004 13: 573; doi:10.1093/hmg/ddh059 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

Kathryn Woodfine, Heike Fiegler, David M. Beare, John E. Collins, Owen T. McCann, Bryan D. Young, Silvana Debernardi, Richard Mott, Ian Dunham, and Nigel P. Carter

Replication timing of the human genome
Hum. Mol. Genet. 2004 13: 575; doi:10.1093/hmg/ddh058 [Extract] [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.