Source: Eur Respir J, 53 (2) 1800508; 10.1183/13993003.00508-2018
Disease area: Interstitial lung diseases



Rating:

Share or cite this content

Citations should be made in the following way:
Raphael Borie, Diane Bouvry, Vincent Cottin, Clement Gauvain, Aurélie Cazes, Marie-Pierre Debray, Jacques Cadranel, Philippe Dieude, Tristan Degot, Stephane Dominique, Anne Sophie Gamez, Madeleine Jaillet, Pierre-Antoine Juge, Arturo Londono-Vallejo, Arnaud Mailleux, Hervé Mal, Catherine Boileau, Christelle Menard, Hilario Nunes, Gregoire Prevot, Sebastien Quetant, Patrick Revy, Julie Traclet, Lidwine Wemeau-Stervinou, Marie Wislez, Caroline Kannengiesser, Bruno Crestani. Regulator of telomere length 1 (RTEL1) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes. Eur Respir J, 53 (2) 1800508; 10.1183/13993003.00508-2018

Member's Comments

No comment yet.

Related content which might interest you: Pulmonary fibrosis in non-mutation carriers of families with short telomere syndrome gene mutations. Source: Virtual Congress 2021 – Genetics and translational aspects of idiopathic pulmonary fibrosis Year: 2021 Mutations in SFTPC, SFTPA2 and TERT explain 60% of familial pulmonary fibrosis and correlate to specific disease phenotypes Source: Annual Congress 2011 - Genetic and molecular background in pulmonary fibrosis Year: 2011 Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis Source: Eur Respir J 2016; 48: 1721-1731 Year: 2016 Pulmonary fibrosis associated with TINF2 gene mutation: is somatic reversion required? Source: Eur Respir J 2014; 44: 269-270 Year: 2014 Pulmonary fibrosis associated with TINF2 gene mutation: is somatic reversion required? Source: Eur Respir J 2014; 44: 270-271 Year: 2014 Pulmonary fibrosis linked to variants in the ACD gene, encoding the telomere protein TPP1 Source: Eur Respir J, 54 (6) 1900809; 10.1183/13993003.00809-2019 Year: 2019 Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis Source: Eur Respir J 2015; 46: 474-485 Year: 2015 The lueokocyte telomere length, single nucleotide polymorphisms near TERC gene and risk of COPD Source: International Congress 2016 – Molecular targets in pulmonary disease Year: 2016 The study of telomere associated genes and telomere measurement in Idiopathic Pulmonary Fibrosis Source: Virtual Congress 2020 – Idiopathic pulmonary fibrosis and interstitial lung disease: progression, genes and more Year: 2020 Telomeres revisited: RTEL1 variants in pulmonary fibrosis Source: Eur Respir J 2015; 46: 312-314 Year: 2015 Repeat polymorphisms (pol.) in the NOS-1 gene and its association with the clinical severity of cystic fibrosis (CF) Source: Annual Congress 2010 - Cystic fibrosis: clinical and laboratory studies Year: 2010 Impaired pulmonary status in cystic fibrosis adults with two mutated MBL-2 alleles Source: Eur Respir J 2004; 24 : 798-804 Year: 2004 Association between leukocyte telomere length (LTL) and functional decline in patients with Idiopathic Pulmonary Fibrosis (IPF) on antifibrotic treatment Source: International Congress 2019 – The evolving field of idiopathic interstitial pneumonia Year: 2019 Telomere length and genetic variant associations with interstitial lung disease progression and survival Source: Eur Respir J, 53 (4) 1801641; 10.1183/13993003.01641-2018 Year: 2019 Association between AGTTGFB1ESR1, and VDR gene variants with idiopathic pulmonary fibrosis (IPF) and pulmonary sarcoidosis (PS) clinical features Source: International Congress 2017 – Functional genomics knowledge in parenchymal and bronchial diseases Year: 2017 First heterozygous NOP10 mutation in familial pulmonary fibrosis Source: Eur Respir J, 55 (6) 1902465; 10.1183/13993003.02465-2019 Year: 2020 The association between leukocyte telomere length, telomere attrition and disease severity in cystic fibrosis patients Source: International Congress 2017 – Cystic fibrosis: monitoring and biomarkers Year: 2017 Homozygous mutations of ARFGAP1 gene in severe sarcoidosis Source: Virtual Congress 2020 – Genetics and biomarkers for diagnosis and prognosis of granulomatous lung diseases Year: 2020 Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation Source: Eur Respir J 2004; 24: 1072-1073 Year: 2004