Human Molecular Genetics, Vol 5, 1909-1913, Copyright © 1996 by Oxford University Press
J Oshima, CE Yu, C Piussan, G Klein, J Jabkowski, S Balci, T Miki, J Nakura, T Ogihara, J Ells, M Smith, MI Melaragno, M Fraccaro, S Scappaticci, J Matthews, S Ouais, A Jarzebowicz, GD Schellenberg and GM Martin
The Werner syndrome (WS) is a rare autosomal recessive progeroid disorder.
The Werner syndrome gene (WRN) has recently been identified as a member of
the helicase family. Four distinct mutations were previously reported in
three Japanese and one Syrian WS pedigrees. The latter mutation was
originally described as a 4 bp deletion spanning a spliced junction. It is
now shown that this mutation results in a 4 bp deletion at the beginning of
an exon. Nine new WRN mutations in 10 additional WS patients, both Japanese
and Caucasian, are described. These include three compound heterozygotes
(one Japanese and two Caucasian). The new mutations are located all across
the coding region.
ARTICLES
Homozygous and compound heterozygous mutations at the Werner syndrome locus
Department of Pathology, University of Washington, Seattle 98195, USA.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  B. C. Capell, F. S. Collins, and E. G. Nabel Mechanisms of Cardiovascular Disease in Accelerated Aging Syndromes Circ. Res., July 6, 2007; 101(1): 13 - 26. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. W. Lee, R. Kusumoto, K. M. Doherty, G.-X. Lin, W. Zeng, W.-H. Cheng, C. von Kobbe, R. M. Brosh Jr., J.-S. Hu, and V. A. Bohr Modulation of Werner Syndrome Protein Function by a Single Mutation in the Conserved RecQ Domain J. Biol. Chem., November 25, 2005; 280(47): 39627 - 39636. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. S. Kamath-Loeb, P. Welcsh, M. Waite, E. T. Adman, and L. A. Loeb The Enzymatic Activities of the Werner Syndrome Protein Are Disabled by the Amino Acid Polymorphism R834C J. Biol. Chem., December 31, 2004; 279(53): 55499 - 55505. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Franchitto, J. Oshima, and P. Pichierri The G2-phase Decatenation Checkpoint Is Defective in Werner Syndrome Cells Cancer Res., June 15, 2003; 63(12): 3289 - 3295. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. CHOI, P. S. WHITTIER, J. OSHIMA, and W. D. FUNK Telomerase expression prevents replicative senescence but does not fully reset mRNA expression patterns in Werner syndrome cell strains FASEB J, April 1, 2001; 15(6): 1014 - 1020. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J.-F. Baurain, D. Colau, N. van Baren, C. Landry, V. Martelange, M. Vikkula, T. Boon, and P. G. Coulie High Frequency of Autologous Anti-Melanoma CTL Directed Against an Antigen Generated by a Point Mutation in a New Helicase Gene J. Immunol., June 1, 2000; 164(11): 6057 - 6066. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. J. Moser, A. S. Kamath-Loeb, J. E. Jacob, S. E. Bennett, J. Oshima, and R. J. Monnat WRN helicase expression in Werner syndrome cell lines Nucleic Acids Res., January 15, 2000; 28(2): 648 - 654. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Shiratori, S. Sakamoto, N. Suzuki, Y. Tokutake, Y. Kawabe, T. Enomoto, M. Sugimoto, M. Goto, T. Matsumoto, and Y. Furuichi Detection by Epitope-defined Monoclonal Antibodies of Werner DNA Helicases in the Nucleoplasm and Their Upregulation by Cell Transformation and Immortalization J. Cell Biol., January 11, 1999; 144(1): 1 - 9. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. A. Marciniak, D. B. Lombard, F. B. Johnson, and L. Guarente Nucleolar localization of the Werner syndrome protein in human cells PNAS, June 9, 1998; 95(12): 6887 - 6892. [Abstract] [Full Text] [PDF]
|
|