Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.

  title={Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.},
  author={Caroline Kannengiesser and Raphael Borie and Christelle M{\'e}nard and Marion R{\'e}ocreux and Patrick Linsel Nitschke and Steven Gazal and Herv{\'e} Mal and Camille Taill{\'e} and Jacques L Cadranel and H. V. N. Nunes and Dominique Valeyre and Jean François Cordier and Isabelle Callebaut and Catherine Boileau and Vincent Cottin and Bernard Grandchamp and Patrick Revy and Bruno Crestani},
  journal={The European respiratory journal},
  volume={46 2},
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 uncharacterised.Here, in order to identify new genetic causes of FPF, we performed whole-exome… CONTINUE READING
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Rare variants in RTEL1 are associated with familial interstitial pneumonia.

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