Genetics and Genomics of Pulmonary Arterial Hypertension

• Other Authors: Southgate, Laura (Editor), Machado, Rajiv (Editor)
• Format: Electronic Book Chapter
• Language: English
• Published: Basel MDPI - Multidisciplinary Digital Publishing Institute 2022
• Subjects: Research & information: general; Genetics (non-medical); pulmonary arterial hypertension; massive parallel sequencing; NGS; digenic inheritance; and genetics; BMPR2 promoter; pathogenic variant; heritable pulmonary arterial hypertension; genetic analysis; NGS gene panel; BMPR2; TBX4; GDF2; EIF2AK4; genomics; pediatrics; lung disease; endothelial cells; smooth muscle cells; DNA damage; DNA repair; expression quantitative trait locus; eQTL; blood; genetics; exome sequencing; molecular genetics; paediatrics; bone morphogenetic protein receptor type 2; heritable; familial; estrogen; estradiol; penetrance; gender; PAH; forward phenotyping; forward genetics; reverse genetics; reverse phenotyping; intermediate phenotypes; whole-genome sequencing; epigenetic inheritance; genetic heterogeneity; phenotypic heterogeneity; pulmonary hypertension; bone morphogenetic protein receptor 2; signaling; repurposed drugs; pharmaceuticals; miRNA; clinical trials; n/a
• Online Access: DOAB: download the publication; DOAB: description of the publication

Pulmonary arterial hypertension is a severe and progressive disorder affecting the blood vessels in the lungs. Typically, symptoms first appear at around 30-40 years of age and, without treatment, can lead to fatal heart disease within a few years. Genetic studies over the past decade have identifie...