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Article

Altered Nucleotide Insertion Mechanisms of Disease-Associated TERT Variants.

Genes - 21 Jan 2023

Welfer Griffin A, Borin Veniamin A, Cortez Luis M, Opresko Patricia L, Agarwal Pratul K, Freudenthal Bret D

Abstract excerpt

Telomere biology disorders (TBDs) are a spectrum of diseases that arise from mutations in genes responsible for maintaining telomere integrity. Human telomerase reverse transcriptase (hTERT) adds nucleotides to chromosome ends and is frequently mutated in individuals with TBDs. Previous studies have provided insight into how relative changes in hTERT activity can lead to pathological outcomes. However, the...

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PMID: 36833208
DOI: 10.3390/genes14020281
PMCID: PMC9957172

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