Ontology highlight
ABSTRACT:
SUBMITTER: Sommer N
PROVIDER: S-EPMC6432681 | biostudies-literature | 2019 Apr-Jun
REPOSITORIES: biostudies-literature
Sommer N N Droege F F Gamen K E KE Geisthoff U U Gall H H Tello K K Richter M J MJ Deubner L M LM Schmiedel R R Hecker M M Spiekerkoetter E E Wirsching K K Seeger W W Ghofrani H A HA Pullamsetti S S
Pulmonary circulation 20180927 2
Pulmonary arterial hypertension (PAH) can be found in patients suffering from a loss-of-function mutation of the gene encoding for the activin receptor-like kinase 1 (ALK-1), a bone morphogenetic protein (BMP) type 1 receptor. Interestingly, ALK-1 mutations also lead to hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant disease characterized by arteriovenous malformations (AVMs) leading to potentially life-threatening bleeding complications such as epistaxis. Current therapeutic ...[more]