Telomerase activity in T-cells as a functional test for pathogenicity assessment of novel genetic variants in telomere biology disorders

Telomerase activity in T-cells as a functional test for pathogenicity assessment of novel genetic variants in telomere biology disorders

Abstract The telomerase enzyme is essential for telomere maintenance. Pathogenic variants in telomere-associated genes have been associated with critical telomere shortening, resulting in telomere biology disorders (TBD) such as bone marrow failure, idiopathic pulmonary fibrosis, and dyskeratosis co...

Full description

Saved in:
Bibliographic Details
Main Authors: Olivia Carlund, Anna Norberg, Pia Osterman, Ida Andersson, Alva Eriksson, Sofie Degerman, Magnus Hultdin
Format: Article
Language:English
Published: Nature Portfolio 2025-08-01
Series:Scientific Reports
Subjects:
Telomere biology disorders
Telomerase activity
Functional analysis
Telomere length
Genetic variants
Online Access:https://doi.org/10.1038/s41598-025-12566-7
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://doi.org/10.1038/s41598-025-12566-7

Similar Items