First heterozygous NOP10 mutation in familial pulmonary fibrosis

Caroline Kannengiesser, Effrosyni D. Manali, Patrick Revy, Isabelle Callebaut, Ibrahima Ba, Adrien Borgel, Claire Oudin, Aggeliki Haritou, Lykourgos Kolilekas, Katerina Malagari, Raphael Borie, Elodie Lainey, Catherine Boileau, Bruno Crestani, Spyros A. Papiris

Source: Eur Respir J, 55 (6) 1902465; 10.1183/13993003.02465-2019
Journal Issue: June

Congress or journal article abstractFull text journal articlePDF journal article, handout or slides

Rating: 0
You must login to grade this presentation.

Share or cite this content

Citations should be made in the following way:
Caroline Kannengiesser, Effrosyni D. Manali, Patrick Revy, Isabelle Callebaut, Ibrahima Ba, Adrien Borgel, Claire Oudin, Aggeliki Haritou, Lykourgos Kolilekas, Katerina Malagari, Raphael Borie, Elodie Lainey, Catherine Boileau, Bruno Crestani, Spyros A. Papiris. First heterozygous NOP10 mutation in familial pulmonary fibrosis. Eur Respir J, 55 (6) 1902465; 10.1183/13993003.02465-2019

You must login to share this Presentation/Article on Twitter, Facebook, LinkedIn or by email.

Member's Comments

No comment yet.
You must Login to comment this presentation.


Related content which might interest you:
Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis
Source: Eur Respir J 2015; 46: 474-485
Year: 2015



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

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


Familial interstitial lung disease and ABCA3 gene Gly964Asp mutation
Source: Annual Congress 2010 - Pathogenesis of diffuse parenchymal lung disease
Year: 2010


Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis
Source: Eur Respir J 2016; 48: 1721-1731
Year: 2016



Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C
Source: Eur Respir J 2001; 17: 1195-1200
Year: 2001



Pulmonary fibrosis in dyskeratosis congenita with TINF2 gene mutation
Source: Eur Respir J 2013; 42: 1757-1759
Year: 2013


Pulmonary fibrosis associated with TINF2 gene mutation: is somatic reversion required?
Source: Eur Respir J 2014; 44: 270-271
Year: 2014


Pulmonary fibrosis associated with TINF2 gene mutation: is somatic reversion required?
Source: Eur Respir J 2014; 44: 269-270
Year: 2014


Genotypic diversity of Pseudomonas aeruginosa in cystic fibrosis patients with the CFTR I1234V mutation in a large kindred family
Source: Annual Congress 2012 - Cystic fibrosis (adults and children): risk factors and clinical problems
Year: 2012


Endoglin germline mutation, hereditary hemorrhagic telangiectasia and fenfluramine-associated pulmonary arterial hypertension
Source: Eur Respir J 2003; 22: Suppl. 45, 463s
Year: 2003

Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations
Source: Eur Respir J 2014; 43: 638-641
Year: 2013


Genotype/phenotype correlation of the G85E mutation in a large cohort of cystic fibrosis patients
Source: Eur Respir J 2004; 23: 679-684
Year: 2004



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



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

Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred
Source: Eur Respir J 2011; 38: 861-869
Year: 2011



Echocardiography of pulmonary vascular function in asymptomatic carriers of BMPR2 mutations
Source: Eur Respir J 2012; 40: 1287-1289
Year: 2012


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



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