Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases.
Mélanie EyriesI David MontaniSophie NadaudBarbara GirerdMarilyne LevyArnaud BourdinRomain TrésorierAri ChaouatVincent CottinCéline SanfiorenzoGrégoire PrevotMartine Reynaud-GaubertClaire DromerAli HoueijehKarine NguyenFlorence CouletDamien BonnetMarc HumbertFlorent SoubrierPublished in: The European respiratory journal (2019)
Our results confirm that mutations are found in genes beyond BMPR2 in heritable PAH, emphasise the role of TBX4 and BMP9, and designate BMP10 as a new PAH gene.
Keyphrases
- pulmonary hypertension
- pulmonary arterial hypertension
- mesenchymal stem cells
- genome wide
- genome wide identification
- polycyclic aromatic hydrocarbons
- bone regeneration
- emergency department
- intensive care unit
- pulmonary artery
- copy number
- genome wide analysis
- single cell
- dna methylation
- gene expression
- transcription factor
- childhood cancer
- bioinformatics analysis