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Article

Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis

14 Apr 2022

Abstract excerpt

Exonic sequencing identified a family with idiopathic pulmonary fibrosis (IPF) containing a previously unreported heterozygous mutation in POT1 p.(L259S). The family displays short telomeres and genetic anticipation. We found that POT1(L259S) is defective in binding the telomeric overhang, nuclear accumulation, negative regulation of telomerase, and lagging strand maintenance. Patient cells containing the...

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Share to Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
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PMID: 35420632
DOI: 10.1084/jem.20211681

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