Human Molecular Genetics

ARTICLES:

M. Bastepe, J. E. Pincus, T. Sugimoto, K. Tojo, M. Kanatani, Y. Azuma, K. Kruse, A. L. Rosenbloom, H. Koshiyama, and H. Jüppner

Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus
Hum. Mol. Genet. 2001 10: 1231-1241; doi:10.1093/hmg/10.12.1231 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Åsa Petersén, Kristin E. Larsen, Gerald G. Behr, Norma Romero, Serge Przedborski, Patrik Brundin, and David Sulzer

Expanded CAG repeats in exon 1 of the Huntington’s disease gene stimulate dopamine-mediated striatal neuron autophagy and degeneration
Hum. Mol. Genet. 2001 10: 1243-1254; doi:10.1093/hmg/10.12.1243 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Tomoko Iwata, Cui-Ling Li, Chu-Xia Deng, and Clair A. Francomano

Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice
Hum. Mol. Genet. 2001 10: 1255-1264; doi:10.1093/hmg/10.12.1255 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jana Sarmanová, Katerina Benesová, Ivan Gut, Vessela Nedelcheva-Kristensen, Lucie Tynková, and Pavel Soucek

Genetic polymorphisms of biotransformation enzymes in patients with Hodgkin’s and non-Hodgkin’s lymphomas
Hum. Mol. Genet. 2001 10: 1265-1273; doi:10.1093/hmg/10.12.1265 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Stephan Wolf, Daniel Mertens, Claudia Schaffner, Christian Korz, Hartmut Döhner, Stephan Stilgenbauer, and Peter Lichter

B-cell neoplasia associated gene with multiple splicing (BCMS): the candidate B-CLL gene on 13q14 comprises more than 560 kb covering all critical regions
Hum. Mol. Genet. 2001 10: 1275-1285; doi:10.1093/hmg/10.12.1275 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Peng Hu, Sergey Beresten, Anja van Brabant, Tian-Zhang Ye, Pier-Paolo Pandolfi, F. Brad Johnson, Leonard Guarente, and Nathan A. Ellis

Evidence for BLM and Topoisomerase III interaction in genomic stability
Hum. Mol. Genet. 2001 10: 1287-1298; doi:10.1093/hmg/10.12.1287 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Andreas Holzinger, Wulf Röschinger, Florian Lagler, Peter U. Mayerhofer, Peter Lichtner, Tanja Kattenfeld, Le Phuc Thuy, William L. Nyhan, Hans G. Koch, Ania C. Muntau, and Adelbert A. Roscher

Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency
Hum. Mol. Genet. 2001 10: 1299-1306; doi:10.1093/hmg/10.12.1299 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Annie Sittler, Rudi Lurz, Gerhild Lueder, Josef Priller, Manajit K. Hayer-Hartl, F. Ulrich Hartl, Hans Lehrach, and Erich E. Wanker

Geldanamycin activates a heat shock response and inhibits huntingtin aggregation in a cell culture model of Huntington’s disease
Hum. Mol. Genet. 2001 10: 1307-1315; doi:10.1093/hmg/10.12.1307 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Steven L. Roberds, John Anderson, Guriqbal Basi, Michael J. Bienkowski, Daniel G. Branstetter, Karen S. Chen, Stephen Freedman, Normand L. Frigon, Dora Games, Kang Hu, Kelly Johnson-Wood, Karl E. Kappenman, Thomas T. Kawabe, Ismail Kola, Ralf Kuehn, Michael Lee, Weiqun Liu, Ruth Motter, Nanette F. Nichols, Michael Power, David W. Robertson, Dale Schenk, Michael Schoor, George M. Shopp, Mary E. Shuck, Sukanto Sinha, Kjell A. Svensson, Gwen Tatsuno, Hartmut Tintrup, John Wijsman, Sarah Wright, and Lisa McConlogue

BACE knockout mice are healthy despite lacking the primary ß-secretase activity in brain: implications for Alzheimer’s disease therapeutics
Hum. Mol. Genet. 2001 10: 1317-1324; doi:10.1093/hmg/10.12.1317 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Akihiro Ikeda, Sakae Ikeda, Thomas Gridley, Patsy M. Nishina, and Jürgen K. Naggert

Neural tube defects and neuroepithelial cell death in Tulp3 knockout mice
Hum. Mol. Genet. 2001 10: 1325-1334; doi:10.1093/hmg/10.12.1325 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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