Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita
Open Access
- 15 August 2005
- journal article
- case report
- Published by American Society of Hematology in Blood
- Vol. 106 (4) , 1246-1252
- https://doi.org/10.1182/blood-2005-01-0247
Abstract
Heterozygous mutations of the human telomerase RNA template gene (TERC) have been described in patients with acquired aplastic anemia and the autosomKeywords
This publication has 27 references indexed in Scilit:
- Cancer and ageing: rival demons?Nature Reviews Cancer, 2003
- Mutations linked to dyskeratosis congenita cause changes in the structural equilibrium in telomerase RNAProceedings of the National Academy of Sciences, 2003
- Connecting Chromosomes, Crisis, and CancerScience, 2002
- The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenitaNature, 2001
- Switching and Signaling at the TelomereCell, 2001
- Identification of Functional Domains and Dominant Negative Mutations in Vertebrate Telomerase RNA Using an in VivoReconstitution SystemJournal of Biological Chemistry, 2001
- Dyskeratosis congenita in all its formsBritish Journal of Haematology, 2000
- Secondary Structure of Vertebrate Telomerase RNACell, 2000
- Telomere length dynamics in human lymphocyte subpopulations measured by flow cytometryNature Biotechnology, 1998
- X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functionsNature Genetics, 1998