TY - BOOK ID - 134727615 TI - Genetics and Genomics of Pulmonary Arterial Hypertension AU - Southgate, Laura AU - Machado, Rajiv PY - 2022 PB - Basel MDPI Books DB - UniCat KW - pulmonary arterial hypertension KW - massive parallel sequencing KW - NGS KW - digenic inheritance KW - and genetics KW - BMPR2 promoter KW - pathogenic variant KW - heritable pulmonary arterial hypertension KW - genetic analysis KW - NGS gene panel KW - BMPR2 KW - TBX4 KW - GDF2 KW - EIF2AK4 KW - genomics KW - pediatrics KW - lung disease KW - endothelial cells KW - smooth muscle cells KW - DNA damage KW - DNA repair KW - expression quantitative trait locus KW - eQTL KW - blood KW - genetics KW - exome sequencing KW - molecular genetics KW - paediatrics KW - bone morphogenetic protein receptor type 2 KW - heritable KW - familial KW - estrogen KW - estradiol KW - penetrance KW - gender KW - PAH KW - forward phenotyping KW - forward genetics KW - reverse genetics KW - reverse phenotyping KW - intermediate phenotypes KW - whole-genome sequencing KW - epigenetic inheritance KW - genetic heterogeneity KW - phenotypic heterogeneity KW - pulmonary hypertension KW - bone morphogenetic protein receptor 2 KW - signaling KW - repurposed drugs KW - pharmaceuticals KW - miRNA KW - clinical trials KW - n/a UR - https://www.unicat.be/uniCat?func=search&query=sysid:134727615 AB - 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 identified numerous genes that contribute to disease progression but, for many sufferers, the underlying genetic cause remains elusive. The collection of reviews and original research articles contained within this book provide an overview of recent advancements in understanding the genetic risk factors for pulmonary arterial hypertension. We further examine the emerging interplay between genetic variants and clinical outcomes, providing a framework for new treatments and improved patient care. ER -