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
Novel telomerase reverse transcriptase gene mutation in a family with aplastic anaemia.
Virijevic M et al.
Familial Cancer, 2024
The Genetic Landscape of Familial Pulmonary Fibrosis.
Liu Q et al.
American Journal of Respiratory and Critical Care Medicine, 2023
Genetic Variant Overlap Analysis Identifies Established and Putative Genes Involved in Pulmonary Fibrosis.
Groen K et al.
International Journal of Molecular Sciences, 2023
Altered Nucleotide Insertion Mechanisms of Disease-Associated TERT Variants.
Welfer GA et al.
Genes, 2023
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Jia X et al.
Science Advances, 2022
35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes
The clinical and functional effects of TERT variants in myelodysplastic syndrome.
Reilly CR et al.
Blood, 2021
A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome.
Gramatges MM et al.
Blood, 2013
A translocation-defective telomerase with low levels of activity and processivity stabilizes short telomeres and confers immortalization.
D'Souza Y et al.
Molecular Biology of the Cell, 2013
Regulation of telomere length and homeostasis by telomerase enzyme processivity.
D'Souza Y et al.
Journal of Cell Science, 2013
hTERT mutations associated with idiopathic pulmonary fibrosis affect telomerase activity, telomere length, and cell growth by distinct mechanisms.
Tsang AR et al.
Aging Cell, 2012
Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.
Alder JK et al.
Plos Genetics, 2011
Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.
Diaz de Leon A et al.
Plos One, 2010
The active site residue Valine 867 in human telomerase reverse transcriptase influences nucleotide incorporation and fidelity.
Drosopoulos WC et al.
Nucleic Acids Research, 2007
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