Article
Telomere dysfunction and mucociliary impairment drive idiopathic pulmonary fibrosis susceptibility: insights from a Sardinian whole-exome study.
BMJ open respiratory research - 30 Jul 2026
Mocci Stefano, Littera Roberto, Deidda Silvia, Cannas Federica, Cocco Chiara, Lorrai Michela, Mereu Caterina, Murgia Michela, Nutile Giulia, Lai Francesco, Sanna Celeste, Serventi Laura, Tosone Gaia, Zedda Elena, Giuressi Erika, Lai Sara, Perra Andrea, Floris Matteo, Giglio Sabrina
Abstract excerpt
BACKGROUND: Idiopathic pulmonary fibrosis (IPF) is a progressive interstitial lung disease in which both environmental exposures and genetic predisposition contribute to disease susceptibility. Studying the burden of rare variants in a genetically homogeneous founder population may help identify disease-associated alleles that are difficult to detect in more heterogeneous populations. METHODS: Whole exome...
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