Human Molecular Genetics

ARTICLES:

Katrin Sangkuhl, Angela Schulz, Holger Römpler, June Yun, Jürgen Wess, and Torsten Schöneberg

Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo
Human Molecular Genetics Advance Access published on March 3, 2004
Hum. Mol. Genet. 2004 13: 893-903; doi:10.1093/hmg/ddh105 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Andreas Schmidt, Bart Marescau, Ernest A. Boehm, W. Klaas Jan Renema, Ruben Peco, Anib Das, Robert Steinfeld, Sharon Chan, Julie Wallis, Michail Davidoff, Kurt Ullrich, Ralph Waldschütz, Arend Heerschap, Peter P. De Deyn, Stefan Neubauer, and Dirk Isbrandt

Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency
Human Molecular Genetics Advance Access published on March 17, 2004
Hum. Mol. Genet. 2004 13: 905-921; doi:10.1093/hmg/ddh112 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Flavia Fontanesi, Luigi Palmieri, Pasquale Scarcia, Tiziana Lodi, Claudia Donnini, Anna Limongelli, Valeria Tiranti, Massimo Zeviani, Iliana Ferrero, and Anna Maria Viola

Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability
Human Molecular Genetics Advance Access published on March 11, 2004
Hum. Mol. Genet. 2004 13: 923-934; doi:10.1093/hmg/ddh108 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Mats I. Ekstrand, Maria Falkenberg, Anja Rantanen, Chan Bae Park, Martina Gaspari, Kjell Hultenby, Pierre Rustin, Claes M. Gustafsson, and Nils-Göran Larsson

Mitochondrial transcription factor A regulates mtDNA copy number in mammals
Human Molecular Genetics Advance Access published on March 11, 2004
Hum. Mol. Genet. 2004 13: 935-944; doi:10.1093/hmg/ddh109 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M.A. Reddy, O.A. Bateman, C. Chakarova, J. Ferris, V. Berry, E. Lomas, R. Sarra, M.A. Smith, A.T. Moore, S.S. Bhattacharya, and C. Slingsby

Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract
Human Molecular Genetics Advance Access published on March 11, 2004
Hum. Mol. Genet. 2004 13: 945-953; doi:10.1093/hmg/ddh110 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kalle Savolainen, Tiina J. Kotti, Werner Schmitz, Teuvo I. Savolainen, Raija T. Sormunen, Mika Ilves, Seppo J. Vainio, Ernst Conzelmann, and J. Kalervo Hiltunen

A mouse model for -methylacyl-CoA racemase deficiency: adjustment of bile acid synthesis and intolerance to dietary methyl-branched lipids
Human Molecular Genetics Advance Access published on March 11, 2004
Hum. Mol. Genet. 2004 13: 955-965; doi:10.1093/hmg/ddh107 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Patricia Price, Agnes M.-L. Wong, David Williamson, Dominic Voon, Svetlana Baltic, Richard J.N. Allcock, Alvin Boodhoo, and Frank T. Christiansen

Polymorphisms at positions -22 and -348 in the promoter of the BAT1 gene affect transcription and the binding of nuclear factors
Human Molecular Genetics Advance Access published on March 17, 2004
Hum. Mol. Genet. 2004 13: 967-974; doi:10.1093/hmg/ddh113 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ragnheidur Fossdal, Fridbert Jonasson, Gudlaug T. Kristjansdottir, Augustine Kong, Hreinn Stefansson, Shyamali Gosh, Jeffrey R. Gulcher, and Kari Stefansson

A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration)
Human Molecular Genetics Advance Access published on March 11, 2004
Hum. Mol. Genet. 2004 13: 975-981; doi:10.1093/hmg/ddh106 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sandra Rodríguez-Perales, Bárbara Meléndez, Susan M. Gribble, Laura Valle, Nigel P. Carter, Iñigo Santamaría, Lucia Conde, Miguel Urioste, Javier Benítez, and Juan C. Cigudosa

Cloning of a new familial t(3;8) translocation associated with conventional renal cell carcinoma reveals a 5 kb microdeletion and no gene involved in the rearrangement
Human Molecular Genetics Advance Access published on March 11, 2004
Hum. Mol. Genet. 2004 13: 983-990; doi:10.1093/hmg/ddh111 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Corrigenda:

Gordon Gong, Omofolasade Kosoko-Lasaki, Gleb R. Haynatzki, and M. Roy Wilson

Genetic dissection of myocilin glaucoma
Hum. Mol. Genet. 2004 13: 991; doi:10.1093/hmg/ddh120 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

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