Associated Papers
Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activity.
Fernández-Varas B et al.
Human Molecular Genetics, 2024
Short telomeres result in chromosomal instability in hematopoietic cells and precede malignant evolution in human aplastic anemia.
Calado RT et al.
Leukemia, 2012
Medical genetics and epigenetics of telomerase.
Koziel JE et al.
Journal of Cellular and Molecular Medicine, 2011
Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants.
Robart AR et al.
The Journal of Biological Chemistry, 2010
Genetic and environmental factors influencing human diseases with telomere dysfunction.
Ly H
International Journal of Clinical and Experimental Medicine, 2009
[Dyskeratosis congenita, a disease caused by defective telomere maintenance].
Hoareau-Aveilla C et al.
Medecine Sciences : M/s, 2008
Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.
Vulliamy TJ et al.
Biochimie, 2008
Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation.
de la Fuente J et al.
Pediatric Transplantation, 2007
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.
Yamaguchi H et al.
The New England Journal of Medicine, 2005
Functional characterization of telomerase RNA variants found in patients with hematologic disorders.
Ly H et al.
Blood, 2005
Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.
Marrone A et al.
Expert Reviews in Molecular Medicine, 2004
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