T-box protein 4 mutation causing pulmonary arterial hypertension and lung disease

Arnaud Maurac, Émilie Lardenois, Mélanie Eyries, Maria Rosa Ghigna, Isabelle Petit, David Montani, Anne Guillaumot, Brice Caput, François Chabot, Ari Chaouat

Source: Eur Respir J, 54 (2) 1900388; 10.1183/13993003.00388-2019
Journal Issue: August
Disease area: Pulmonary vascular diseases

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:
Arnaud Maurac, Émilie Lardenois, Mélanie Eyries, Maria Rosa Ghigna, Isabelle Petit, David Montani, Anne Guillaumot, Brice Caput, François Chabot, Ari Chaouat. T-box protein 4 mutation causing pulmonary arterial hypertension and lung disease. Eur Respir J, 54 (2) 1900388; 10.1183/13993003.00388-2019

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:
First identification of Krüppel-like factor 2 mutation in heritable pulmonary arterial hypertension
Source: International Congress 2017 – Current molecular and genetic understanding of lung diseases
Year: 2017


Correspondence regarding “T-box protein 4 mutation causing pulmonary arterial hypertension and lung disease”: a single-centre case series
Source: Eur Respir J, 55 (5) 1902272; 10.1183/13993003.02272-2019
Year: 2020



Diffuse lung disease and pulmonary hypertension related to TBX4 mutation in 5 children
Source: International Congress 2019 – A mixture of rare lung diseases
Year: 2019

Expression of fetal genes in pulmonary arterial hypertension
Source: Annual Congress 2005 - Pulmonary hypertension and fibrosis: novel mechanisms
Year: 2005


Pulmonary arterial hypertension preceding idiopathic pulmonary fibrosis in a BMPR2 mutation positive patient
Source: Eur Respir Rev 2014; 23: 147-149
Year: 2014


Severe pulmonary hypertension after the discovery of the familial primary pulmonary hypertension gene
Source: Eur Respir J 2001; 17: 1065-1069
Year: 2001


TBX4 syndrome: a systemic disease highlighted by pulmonary arterial hypertension in its most severe form
Source: Eur Respir J, 55 (5) 2000585; 10.1183/13993003.00585-2020
Year: 2020



BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease
Source: Eur Respir J 2004; 24: 371-374
Year: 2004



CFTR involvement in the pathogenesis of pulmonary arterial hypertension
Source: Virtual Congress 2020 – Experimental approaches to pulmonary hypertension
Year: 2020


BMPR2 mutation status influences bronchial vascular changes in pulmonary arterial hypertension
Source: Eur Respir J 2016; 48: 1668-1681
Year: 2016



A central role for nuclear factor of activated T cells (NFAT) in human pulmonary arterial hypertension
Source: Annual Congress 2006 - Signalisation in the pulmonary vasculature: new pathways and wrong signals
Year: 2006


Phenotype and outcome of pulmonary arterial hypertension patients carrying a TBX4 mutation
Source: Eur Respir J, 55 (5) 1902340; 10.1183/13993003.02340-2019
Year: 2020



Towards an understanding of pulmonary arterial hypertension (PAH): gene regulation patterns in pulmonary arterial resistance vessels of patients with PAH
Source: Eur Respir J 2006; 28: Suppl. 50, 526s
Year: 2006

Iron deficiency in pulmonary arterial hypertension: a potential therapeutic target
Source: Eur Respir J 2011; 38: 1453-1460
Year: 2011



Protein truncating mutations in ATP13A3 promote pulmonary arterial hypertension
Source: Virtual Congress 2020 – Genetics and genomics of pulmonary arterial hypertension
Year: 2020




Pulmonary hypertension in children
Source: Eur Respir Mon 2012; 57: 94-107
Year: 2012


Genetics of pulmonary hypertension: from bench to bedside
Source: Eur Respir J 2002; 20: 741-749
Year: 2002



Involvement of CFTR in the pathogenesis of pulmonary arterial hypertension
Source: Eur Respir J, 58 (5) 2000653; 10.1183/13993003.00653-2020
Year: 2021