TY -的T1 -肺纤维化与瓦里安ts in the ACD gene, encoding the telomere protein TPP1 JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.00809-2019 VL - 54 IS - 6 SP - 1900809 AU - Hoffman, Thijs W. AU - van der Vis, Joanne J. AU - van der Smagt, Jasper J. AU - Massink, Maarten P.G. AU - Grutters, Jan C. AU - van Moorsel, Coline H.M. Y1 - 2019/12/01 UR - //www.qdcxjkg.com/content/54/6/1900809.abstract N2 - Telomeres are repetitive DNA sequences at the ends of chromosomes. Telomeres shorten with every cell division, and thus become increasingly short with age. Stable telomeres are necessary for cellular survival, and critically short or dysfunctional telomeres lead to cellular senescence or apoptosis. Mutations in genes encoding telomere-associated proteins can lead to increased telomere shortening or telomere dysfunction [1]. These mutations can cause various disease manifestations, which are termed telomere syndromes [1].Pulmonary fibrosis is associated with mutations in the ACD gene, encoding the telomere protein TPP1. Potentially disease-causing variants were found in 5% of a cohort of 60 unrelated patients with pulmonary fibrosis who were referred for genetic screening. http://bit.ly/2Mw9Cn0We thank K.M. Kazemier (Dept of Pulmonology, St Antonius Hospital, Nieuwegein, the Netherlands) for her expert assistance with performing telomere length measurement, H.W. van Es (Dept of Radiology, St Antonius Hospital) for his expert interpretation of the radiology images, and A.E. Schoemaker (Dept of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands) for her assistance with collecting patient information. ER -