Ontology highlight
ABSTRACT:
SUBMITTER: Swietlik EM
PROVIDER: S-EPMC7760524 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Swietlik Emilia M EM Prapa Matina M Martin Jennifer M JM Pandya Divya D Auckland Kathryn K Morrell Nicholas W NW Gräf Stefan S
Genes 20201126 12
Although the invention of right heart catheterisation in the 1950s enabled accurate clinical diagnosis of pulmonary arterial hypertension (PAH), it was not until 2000 when the landmark discovery of the causative role of bone morphogenetic protein receptor type II (<i>BMPR2</i>) mutations shed new light on the pathogenesis of PAH. Since then several genes have been discovered, which now account for around 25% of cases with the clinical diagnosis of idiopathic PAH. Despite the ongoing efforts, in ...[more]