Haematologica
HOME HELP FEEDBACK TABLE OF CONTENTS ARCHIVE SUBSCRIPTIONS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Liang, J
Right arrow Articles by Kojima, S
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Liang, J
Right arrow Articles by Kojima, S
Haematologica, Vol 91, Issue 5, 656-658
Copyright © 2006 by Ferrata Storti Foundation

Journal Article

Mutations in telomerase catalytic protein in Japanese children with aplastic anemia

J Liang, H Yagasaki, Y Kamachi, A Hama, K Matsumoto, K Kato, K Kudo, and S Kojima

Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Recent studies indicate that a subset of patients with apparently acquired aplastic anemia (AA) have mutations in genes for telomerase ribonucleoprotein complex components. We looked for mutations in telomerase RNA (TERC) and telomerase reverse transcriptase (TERT) in 96 Japanese children with acquired AA and in 76 healthy controls. No mutations in TERC were found in any subjects. Novel heterozygous, non-synonymous mutations in TERT (T726M and G682D) were found in two patients with AA, neither of whom had clinical characteristics suggesting constitutional AA. This genetic difference does not explain the higher incidence of AA in Asian populations.


This article has been cited by other articles:


Home page
 BloodHome page
R. T. Calado and N. S. Young
Telomere maintenance and human bone marrow failure
Blood, May 1, 2008; 111(9): 4446 - 4455.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
A. Marrone, A. Walne, H. Tamary, Y. Masunari, M. Kirwan, R. Beswick, T. Vulliamy, and I. Dokal
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome
Blood, December 15, 2007; 110(13): 4198 - 4205.
[Abstract] [Full Text] [PDF]

Home page
 Nucleic Acids ResHome page
C. K. Garcia, W. E. Wright, and J. W. Shay
Human diseases of telomerase dysfunction: insights into tissue aging
Nucleic Acids Res., December 3, 2007; 35(22): 7406 - 7416.
[Abstract] [Full Text] [PDF]

Home page
 haematolHome page
Y. Wang, H. Yagasaki, A. Hama, N. Nishio, Y. Takahashi, and S. Kojima
Mutation of SBDS and SH2D1A is not associated with aplastic anemia in Japanese children
Haematologica, November 1, 2007; 92(11): 1573 - 1573.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
A. J. Walne, T. Vulliamy, A. Marrone, R. Beswick, M. Kirwan, Y. Masunari, F.-h. Al-Qurashi, M. Aljurf, and I. Dokal
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10
Hum. Mol. Genet., July 1, 2007; 16(13): 1619 - 1629.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
Z.-T. Xin, A. D. Beauchamp, R. T. Calado, J. W. Bradford, J. A. Regal, A. Shenoy, Y. Liang, P. M. Lansdorp, N. S. Young, and H. Ly
Functional characterization of natural telomerase mutations found in patients with hematologic disorders
Blood, January 15, 2007; 109(2): 524 - 532.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK TABLE OF CONTENTS ARCHIVE SUBSCRIPTIONS
Copyright © 2006 by the Ferrata Storti Foundation.