Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis

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 a...

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Detalles Bibliográficos
Autores principales: Kelich, Joseph, Aramburu, Tomas, van der Vis, Joanne J., Showe, Louise, Kossenkov, Andrew, van der Smagt, Jasper, Massink, Maarten, Schoemaker, Angela, Hennekam, Eric, Veltkamp, Marcel, van Moorsel, Coline H.M., Skordalakes, Emmanuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9014792/
https://www.ncbi.nlm.nih.gov/pubmed/35420632
http://dx.doi.org/10.1084/jem.20211681

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9014792/
https://www.ncbi.nlm.nih.gov/pubmed/35420632
http://dx.doi.org/10.1084/jem.20211681

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