Rescuing the BMPR2 signaling axis in pulmonary arterial hypertension
β Scribed by West, James; Austin, Eric; Fessel, Joshua P.; Loyd, James; Hamid, Rizwan
- Book ID
- 122311430
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 499 KB
- Volume
- 19
- Category
- Article
- ISSN
- 1359-6446
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## Communicated by Maria Rita Passos-Bueno Pulmonary arterial hypertension (PAH) is clinically characterized by a sustained elevation in mean pulmonary artery pressure leading to significant morbidity and mortality. The disorder is typically sporadic, and in such cases the term idiopathic PAH (IPAH
## Abstract Pulmonary arterial hypertension (PAH) and hereditary hemorrhagic telangiectasia (HHT) are distinct clinical entities caused by germline mutations in genes encoding members of the TGFΞ²/BMP superfamily: __BMPR2__ in PAH and __ACVRL1__, __ENG__, or __SMAD4__ in HHT. When PAH and HHT occasi
Familial pulmonary arterial hypertension (FPAH) is a progressive, fatal disease caused by mutations in the bone morphogenetic protein receptor type 2 gene (BMPR2). FPAH is inherited as an autosomal dominant trait, and shows incomplete penetrance in that many with BMPR2 mutations do not develop FPAH,