Human Molecular Genetics

ARTICLES:

Petri T. Luoma, Ningguang Luo, Wolfgang N. Löscher, Carol L. Farr, Rita Horvath, Julia Wanschitz, Stefan Kiechl, Laurie S. Kaguni, and Anu Suomalainen

Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome
Human Molecular Genetics Advance Access published on May 25, 2005
Hum. Mol. Genet. 2005 14: 1907-1920; doi:10.1093/hmg/ddi196 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Michelle Wehling-Henricks, Maria C. Jordan, Kenneth P. Roos, Bo Deng, and James G. Tidball

Cardiomyopathy in dystrophin-deficient hearts is prevented by expression of a neuronal nitric oxide synthase transgene in the myocardium
Human Molecular Genetics Advance Access published on May 25, 2005
Hum. Mol. Genet. 2005 14: 1921-1933; doi:10.1093/hmg/ddi197 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Francesca Mari, Sara Azimonti, Ilaria Bertani, Fabrizio Bolognese, Elena Colombo, Rossella Caselli, Elisa Scala, Ilaria Longo, Salvatore Grosso, Chiara Pescucci, Francesca Ariani, Giuseppe Hayek, Paolo Balestri, Anna Bergo, Gianfranco Badaracco, Michele Zappella, Vania Broccoli, Alessandra Renieri, Charlotte Kilstrup-Nielsen, and Nicoletta Landsberger

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome
Human Molecular Genetics Advance Access published on May 25, 2005
Hum. Mol. Genet. 2005 14: 1935-1946; doi:10.1093/hmg/ddi198 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nicholas J. Bray, Anna Preece, Nigel M. Williams, Valentina Moskvina, Paul R. Buckland, Michael J. Owen, and Michael C. O'Donovan

Haplotypes at the dystrobrevin binding protein 1 (DTNBP1) gene locus mediate risk for schizophrenia through reduced DTNBP1 expression
Human Molecular Genetics Advance Access published on May 25, 2005
Hum. Mol. Genet. 2005 14: 1947-1954; doi:10.1093/hmg/ddi199 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Imke M. Veltman, Lilian A. Vreede, Jinke Cheng, Leendert H.J. Looijenga, Bert Janssen, Eric F.P.M. Schoenmakers, Edward T.H. Yeh, and Ad Geurts van Kessel

Fusion of the SUMO/Sentrin-specific protease 1 gene SENP1 and the embryonic polarity-related mesoderm development gene MESDC2 in a patient with an infantile teratoma and a constitutional t(12;15)(q13;q25)
Human Molecular Genetics Advance Access published on May 25, 2005
Hum. Mol. Genet. 2005 14: 1955-1963; doi:10.1093/hmg/ddi200 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Alberto Inga, Stella Marie Reamon-Buettner, Juergen Borlak, and Michael A. Resnick

Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system
Human Molecular Genetics Advance Access published on May 25, 2005
Hum. Mol. Genet. 2005 14: 1965-1975; doi:10.1093/hmg/ddi202 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ignacio Mazón Peláez, Susanne Vogler, Ulf Strauss, Patrik Wernhoff, Jens Pahnke, Gudrun Brockmann, Holger Moch, Hans-Juergen Thiesen, Arndt Rolfs, and Saleh M. Ibrahim

Identification of quantitative trait loci controlling cortical motor evoked potentials in experimental autoimmune encephalomyelitis: correlation with incidence, onset and severity of disease
Human Molecular Genetics Advance Access published on May 25, 2005
Hum. Mol. Genet. 2005 14: 1977-1989; doi:10.1093/hmg/ddi203 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Yvette P. Conley, Anbupalam Thalamuthu, Johanna Jakobsdottir, Daniel E. Weeks, Tammy Mah, Robert E. Ferrell, and Michael B. Gorin

Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy
Human Molecular Genetics Advance Access published on June 1, 2005
Hum. Mol. Genet. 2005 14: 1991-2002; doi:10.1093/hmg/ddi204 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jill Jarecki, Xiaocun Chen, Alexandra Bernardino, Daniel D. Coovert, Michael Whitney, Arthur Burghes, Jeffrey Stack, and Brian A. Pollok

Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy
Human Molecular Genetics Advance Access published on June 8, 2005
Hum. Mol. Genet. 2005 14: 2003-2018; doi:10.1093/hmg/ddi205 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

David A. Dyment, Blanca M. Herrera, M. Zameel Cader, Cristen J. Willer, Matthew R. Lincoln, A. Dessa Sadovnick, Neil Risch, and George C. Ebers

Complex interactions among MHC haplotypes in multiple sclerosis: susceptibility and resistance
Human Molecular Genetics Advance Access published on June 1, 2005
Hum. Mol. Genet. 2005 14: 2019-2026; doi:10.1093/hmg/ddi206 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jae H. Lim, Anne B. Booker, Ting Luo, Trevor Williams, Yasuhide Furuta, Oleg Lagutin, Guillermo Oliver, Thomas D. Sargent, and Justin R. Fallon

AP-2 selectively regulates fragile X mental retardation-1 gene transcription during embryonic development
Human Molecular Genetics Advance Access published on June 1, 2005
Hum. Mol. Genet. 2005 14: 2027-2034; doi:10.1093/hmg/ddi207 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Bianca Gonzales, Dale Henning, Rolando B. So, Jill Dixon, Michael J. Dixon, and Benigno C. Valdez

The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation
Human Molecular Genetics Advance Access published on June 1, 2005
Hum. Mol. Genet. 2005 14: 2035-2043; doi:10.1093/hmg/ddi208 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Patricia M.R. Aldred, Edward J. Hollox, and John A.L. Armour

Copy number polymorphism and expression level variation of the human -defensin genes DEFA1 and DEFA3
Human Molecular Genetics Advance Access published on June 8, 2005
Hum. Mol. Genet. 2005 14: 2045-2052; doi:10.1093/hmg/ddi209 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Chris Ottolenghi, Shakib Omari, J. Elias Garcia-Ortiz, Manuela Uda, Laura Crisponi, Antonino Forabosco, Giuseppe Pilia, and David Schlessinger

Foxl2 is required for commitment to ovary differentiation
Human Molecular Genetics Advance Access published on June 8, 2005
Hum. Mol. Genet. 2005 14: 2053-2062; doi:10.1093/hmg/ddi210 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Li Zhang, Mika Shimoji, Bobby Thomas, Darren J. Moore, Seong-Woon Yu, Neena I. Marupudi, Reidun Torp, Ingeborg A. Torgner, Ole P. Ottersen, Ted M. Dawson, and Valina L. Dawson

Mitochondrial localization of the Parkinson's disease related protein DJ-1: implications for pathogenesis
Human Molecular Genetics Advance Access published on June 8, 2005
Hum. Mol. Genet. 2005 14: 2063-2073; doi:10.1093/hmg/ddi211 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Zihua Wang, Baoshuang Wang, Kun Tang, Edmund J.D. Lee, Samuel S. Chong, and Caroline G.L. Lee

A functional polymorphism within the MRP1 gene locus identified through its genomic signature of positive selection
Human Molecular Genetics Advance Access published on June 8, 2005
Hum. Mol. Genet. 2005 14: 2075-2087; doi:10.1093/hmg/ddi212 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Isabel Martín Caballero and Brian Hendrich

MeCP2 in neurons: closing in on the causes of Rett Syndrome
Hum. Mol. Genet. 2005 14: 2089; doi:10.1093/hmg/ddi213 [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.