Article
Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.
The European respiratory journal - 1 Aug 2015
Kannengiesser Caroline, Borie Raphael, Ménard Christelle, Réocreux Marion, Nitschké Patrick, Gazal Steven, Mal Hervé, Taillé Camille, Cadranel Jacques, Nunes Hilario, Valeyre Dominique, Cordier Jean François, Callebaut Isabelle, Boileau Catherine, Cottin Vincent, Grandchamp Bernard, Revy Patrick, Crestani Bruno
Abstract excerpt
Pulmonary fibrosis is a fatal disease with progressive loss of respiratory function. Defective telomere maintenance leading to telomere shortening is a cause of pulmonary fibrosis, as mutations in the telomerase component genes TERT (reverse transcriptase) and TERC (RNA component) are found in 15% of familial pulmonary fibrosis (FPF) cases. However, so far, about 85% of FPF remain genetically...
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