Source: Eur Respir J 2015; 46: 474-485
Disease area: Interstitial lung diseases



Rating:

Share or cite this content

Citations should be made in the following way:
Kannengiesser Caroline, Borie Raphael, Ménard Christelle, Réocreux Marion, Nitschké Patrick, Gazal Steven, Mal Hervé, Taillé Camille, Cadranel Jacques, Nunes Hilario, Valeyre Dominique, Cordier Jean François, Callebaut Isabelle, Boileau Catherine, Cottin Vincent, Grandchamp Bernard, Revy Patrick, Crestani Bruno. Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis. Eur Respir J 2015; 46: 474-485

Member's Comments

No comment yet.

Related content which might interest you: First heterozygous NOP10 mutation in familial pulmonary fibrosis Source: Eur Respir J, 55 (6) 1902465; 10.1183/13993003.02465-2019 Year: 2020 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 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 Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations Source: Eur Respir J 2014; 43: 638-641 Year: 2013 Familial interstitial lung disease and ABCA3 gene Gly964Asp mutation Source: Annual Congress 2010 - Pathogenesis of diffuse parenchymal lung disease Year: 2010 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 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 Protein truncating mutations in ATP13A3 promote pulmonary arterial hypertension Source: Virtual Congress 2020 – Genetics and genomics of pulmonary arterial hypertension Year: 2020 Endoglin germline mutation, hereditary hemorrhagic telangiectasia and fenfluramine-associated pulmonary arterial hypertension Source: Eur Respir J 2003; 22: Suppl. 45, 463s Year: 2003 Progressive lung disease caused by ABCA3 mutation Source: Virtual Congress 2020 – From the bronchoscope to the clinic: paediatric bronchology at a glance Year: 2020 Pulmonary fibrosis in dyskeratosis congenita with TINF2 gene mutation Source: Eur Respir J 2013; 42: 1757-1759 Year: 2013 Lung function and disease severity in cystic fibrosis patients heterozygous for p.Arg117His Source: ERJ Open Res, 3 (1) 00056-2016; 10.1183/23120541.00056-2016 Year: 2017 Novel rare genetic variants in idiopathic pulmonary fibrosis Source: Eur Respir J, 56 (6) 2003252; 10.1183/13993003.03252-2020 Year: 2020 Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood Source: ERJ Open Res, 5 (3) 00066-2019; 10.1183/23120541.00066-2019 Year: 2019 Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension Source: Eur Respir J, 54 (2) 1801965; 10.1183/13993003.01965-2018 Year: 2019 Clinical characteristics, hemodynamics and survival in idiopathic and familial pulmonary arterial hypertension with germline BMPR2 mutation Source: Eur Respir J 2007; 30: Suppl. 51, 250s Year: 2007 CARD15/NOD2 polymorphisms are associated with severe pulmonary sarcoidosis Source: Eur Respir J 2010; 35: 324-330 Year: 2010 Somatic DICER1 mutations in adult-onset pulmonary blastoma Source: Eur Respir J 2016; 47:1879-1882 Year: 2016