Associated Papers
Mice carrying the homologous human shelterin POT1-L259S mutation linked to pulmonary fibrosis show a telomerase deficiency-like phenotype with telomere shortening with increasing mouse generations.
Sánchez-Vázquez R et al.
Genes & Development, 2025
Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.
Odintsov I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Dissecting the oncogenic mechanisms of POT1 cancer mutations through deep scanning mutagenesis.
Martin A et al.
Biorxiv : the Preprint Server for Biology, 2024
A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.
Villeneuve J et al.
American Journal of Respiratory Cell and Molecular Biology, 2024
Recent advances in the genetics of idiopathic pulmonary fibrosis.
Spagnolo P et al.
Current Opinion in Pulmonary Medicine, 2023
POT1 mutations cause differential effects on telomere length leading to opposing disease phenotypes.
Zade NH et al.
Journal of Cellular Physiology, 2023
Genetic Variant Overlap Analysis Identifies Established and Putative Genes Involved in Pulmonary Fibrosis.
Groen K et al.
International Journal of Molecular Sciences, 2023
Cellular and Molecular Mechanisms in Idiopathic Pulmonary Fibrosis.
Zhang Y et al.
Advances in Respiratory Medicine, 2023
Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis.
Kelich J et al.
The Journal of Experimental Medicine, 2022
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