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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.

Research & information: general --- Biology, life sciences --- 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

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

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.

Research & information: general --- Biology, life sciences --- 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 --- 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