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Pulmonary fibrosis linked to variants in the ACD gene, encoding the telomere protein TPP1


Thijs W. Hoffman, Joanne J. van der Vis, Jasper J. van der Smagt, Maarten P.G. Massink, Jan C. Grutters, Coline H.M. van Moorsel

European Respiratory Journal 2019; DOI: 10.1183/13993003.00809-2019

Extract

Telomeres are a repetitive DNA sequence 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].

Footnotes

This manuscript has recently been accepted for publication in the European Respiratory Journal. It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJ online. Please open or download the PDF to view this article.

Conflict of interest: Dr. Hoffman has nothing to disclose.

Conflict of interest: Dr. van der Vis reports grants from ZonMW, during the conduct of the study.

Conflict of interest: Dr. van der Smagt has nothing to disclose.

Conflict of interest: Dr. Massink has nothing to disclose.

Conflict of interest: Dr. Grutters reports grants from ZonMW, during the conduct of the study.

Conflict of interest: Dr. van Moorsel reports grants from ZonMW, during the conduct of the study.

sumber : https://erj.ersjournals.com/content/early/2019/08/21/13993003.00809-2019

 
 

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