Human Molecular Genetics

ARTICLES:

Birgit Zucker, Ruth Luthi-Carter, Jibrin A. Kama, Anthone W. Dunah, Edward A. Stern, Jonathan H. Fox, David G. Standaert, Anne B. Young, and Sarah J. Augood

Transcriptional dysregulation in striatal projection- and interneurons in a mouse model of Huntington's disease: neuronal selectivity and potential neuroprotective role of HAP1
Human Molecular Genetics Advance Access published on November 17, 2004
Hum. Mol. Genet. 2005 14: 179-189; doi:10.1093/hmg/ddi014 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Mercè Garcia-Barcelo, Raymond W. Ganster, Vincent C.H. Lui, Thomas Y.Y. Leon, Man-Ting So, Anson M.F. Lau, Ming Fu, Mai-Har Sham, Joanne Knight, Maria Stella Zannini, Pak C. Sham, and Paul K.H. Tam

TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease
Human Molecular Genetics Advance Access published on November 17, 2004
Hum. Mol. Genet. 2005 14: 191-204; doi:10.1093/hmg/ddi015 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Paolo Moretti, J. Adriaan Bouwknecht, Ryan Teague, Richard Paylor, and Huda Y. Zoghbi

Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome
Human Molecular Genetics Advance Access published on November 17, 2004
Hum. Mol. Genet. 2005 14: 205-220; doi:10.1093/hmg/ddi016 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Carmen Bertoni, Glenn E. Morris, and Thomas A. Rando

Strand bias in oligonucleotide-mediated dystrophin gene editing
Human Molecular Genetics Advance Access published on November 24, 2004
Hum. Mol. Genet. 2005 14: 221-233; doi:10.1093/hmg/ddi020 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hafid Alazzouzi, Enric Domingo, Sara González, Ignacio Blanco, Manel Armengol, Eloi Espín, Alberto Plaja, Simó Schwartz, Gabriel Capella, and Simó Schwartz, Jr

Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis
Human Molecular Genetics Advance Access published on November 24, 2004
Hum. Mol. Genet. 2005 14: 235-239; doi:10.1093/hmg/ddi021 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kazuya Iwamoto, Miki Bundo, and Tadafumi Kato

Altered expression of mitochondria-related genes in postmortem brains of patients with bipolar disorder or schizophrenia, as revealed by large-scale DNA microarray analysis
Human Molecular Genetics Advance Access published on November 24, 2004
Hum. Mol. Genet. 2005 14: 241-253; doi:10.1093/hmg/ddi022 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Zhenglin Yang, Bernardo V. Alvarez, Christina Chakarova, Li Jiang, Goutam Karan, Jeanne M. Frederick, Yu Zhao, Yves Sauvé, Xi Li, Eberhart Zrenner, Bernd Wissinger, Anneke I. Den Hollander, Bradley Katz, Wolfgang Baehr, Frans P. Cremers, Joseph R. Casey, Shomi S. Bhattacharya, and Kang Zhang

Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration
Human Molecular Genetics Advance Access published on November 24, 2004
Hum. Mol. Genet. 2005 14: 255-265; doi:10.1093/hmg/ddi023 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Roberta Pietrobono, Elisabetta Tabolacci, Francesca Zalfa, Ilaria Zito, Alessandra Terracciano, Umberto Moscato, Claudia Bagni, Ben Oostra, Pietro Chiurazzi, and Giovanni Neri

Molecular dissection of the events leading to inactivation of the FMR1 gene
Human Molecular Genetics Advance Access published on November 24, 2004
Hum. Mol. Genet. 2005 14: 267-277; doi:10.1093/hmg/ddi024 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Naomi L. Baker, Matthias Mörgelin, Rachel Peat, Nathalie Goemans, Kathryn N. North, John F. Bateman, and Shireen R. Lamandé

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy
Human Molecular Genetics Advance Access published on November 24, 2004
Hum. Mol. Genet. 2005 14: 279-293; doi:10.1093/hmg/ddi025 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Christopher T. Esapa, R.A. Jeffrey McIlhinney, and Derek J. Blake

Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells
Human Molecular Genetics Advance Access published on December 1, 2004
Hum. Mol. Genet. 2005 14: 295-305; doi:10.1093/hmg/ddi026 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Marie Fernet, Moez Gribaa, Mustafa A.M. Salih, Mohamed Zein Seidahmed, Janet Hall, and Michel Koenig

Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder
Human Molecular Genetics Advance Access published on December 1, 2004
Hum. Mol. Genet. 2005 14: 307-318; doi:10.1093/hmg/ddi027 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jordi Frigola, Xavier Solé, Maria F. Paz, Victor Moreno, Manel Esteller, Gabriel Capellà, and Miguel A. Peinado

Differential DNA hypermethylation and hypomethylation signatures in colorectal cancer
Human Molecular Genetics Advance Access published on December 1, 2004
Hum. Mol. Genet. 2005 14: 319-326; doi:10.1093/hmg/ddi028 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Yoshiko Ohgari, Mari Sawamoto, Masayoshi Yamamoto, Hirao Kohno, and Shigeru Taketani

Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer
Human Molecular Genetics Advance Access published on December 1, 2004
Hum. Mol. Genet. 2005 14: 327-334; doi:10.1093/hmg/ddi029 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Duncan R. Hewett, Alison L. Simons, Niamh E. Mangan, Helen E. Jolin, Shelia M. Green, Padraic G. Fallon, and Andrew N.J. McKenzie

Lethal, neonatal ichthyosis with increased proteolytic processing of filaggrin in a mouse model of Netherton syndrome
Human Molecular Genetics Advance Access published on December 8, 2004
Hum. Mol. Genet. 2005 14: 335-346; doi:10.1093/hmg/ddi030 [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.