Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis.

doi:10.1183/13993003.02115-2015

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Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis.

The European respiratory journal - 1 Dec 2016

Borie Raphael, Tabèze Laure, Thabut Gabriel, Nunes Hilario, Cottin Vincent, Marchand-Adam Sylvain, Prevot Grégoire, Tazi Abdellatif, Cadranel Jacques, Mal Herve, Wemeau-Stervinou Lidwine, Bergeron Lafaurie Anne, Israel-Biet Dominique, Picard Clement, Reynaud Gaubert Martine, Jouneau Stephane, Naccache Jean-Marc, Mankikian Julie, Ménard Christelle, Cordier Jean-François, Valeyre Dominique, Reocreux Marion, Grandchamp Bernard, Revy Patrick, Kannengiesser Caroline, Crestani Bruno

Abstract excerpt

Telomerase reverse transcriptase (TERT) or telomerase RNA (TERC) gene mutation is a major monogenic cause of pulmonary fibrosis. Sequencing of TERT/TERC genes is proposed to patients with familial pulmonary fibrosis. Little is known about the possible predictors of this mutation and its impact on prognosis.We retrospectively analysed all the genetic diagnoses made between 2007-2014 in patients with pulmonary...

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PMID: 27836952
DOI: 10.1183/13993003.02115-2015

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TERT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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