Associated Papers
Structures of nucleotide-bound human telomerase at several steps of its telomeric DNA repeat addition cycle.
Balch S et al.
Nature Communications, 2026
41565648 (PubMed )
Supplement: 41467_2026_68560_MOESM3_ESM.xlsx › Sheet1
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
39198715 (PubMed )
Supplement: 44321_2024_118_MOESM4_ESM.xlsx › Dataset_EV1
Complex interaction network revealed by mutation of human telomerase 'insertion in fingers' and essential N-terminal domains and the telomere protein TPP1.
Lambert-Lanteigne P et al.
The Journal of Biological Chemistry, 2023
Multiple Mechanisms Contribute to the Cell Growth Defects Imparted by Human Telomerase Insertion in Fingers Domain Mutations Associated with Premature Aging Diseases.
Chu TW et al.
The Journal of Biological Chemistry, 2016
Many disease-associated variants of hTERT retain high telomerase enzymatic activity.
Zaug AJ et al.
Nucleic Acids Research, 2013
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
Short telomeres resulting from heritable mutations in the telomerase reverse transcriptase gene predispose for a variety of malignancies.
Hills M et al.
Annals of the New York Academy of Sciences, 2009
Genetic and environmental factors influencing human diseases with telomere dysfunction.
Ly H
International Journal of Clinical and Experimental Medicine, 2009
Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.
Vulliamy TJ et al.
Biochimie, 2008
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
Marrone A et al.
Blood, 2007
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
Functional characterization of natural telomerase mutations found in patients with hematologic disorders.
Xin ZT et al.
Blood, 2007
Human diseases of telomerase dysfunction: insights into tissue aging.
Garcia CK et al.
Nucleic Acids Research, 2007
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.
Vulliamy TJ et al.
Blood, 2006
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