03741nam 2201021z- 450 991059507860332120231214133154.0(CKB)5680000000080739(oapen)https://directory.doabooks.org/handle/20.500.12854/92130(EXLCZ)99568000000008073920202209d2022 |y 0engurmn|---annantxtrdacontentcrdamediacrrdacarrierGenetics and Genomics of Pulmonary Arterial HypertensionBaselMDPI Books20221 electronic resource (188 p.)3-0365-4829-7 3-0365-4830-0 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: generalbicsscBiology, life sciencesbicsscGenetics (non-medical)bicsscpulmonary arterial hypertensionmassive parallel sequencingNGSdigenic inheritanceand geneticsBMPR2 promoterpathogenic variantheritable pulmonary arterial hypertensiongenetic analysisNGS gene panelBMPR2TBX4GDF2EIF2AK4genomicspediatricslung diseaseendothelial cellssmooth muscle cellsDNA damageDNA repairexpression quantitative trait locuseQTLbloodgeneticsexome sequencingmolecular geneticspaediatricsbone morphogenetic protein receptor type 2heritablefamilialestrogenestradiolpenetrancegenderPAHforward phenotypingforward geneticsreverse geneticsreverse phenotypingintermediate phenotypeswhole-genome sequencingepigenetic inheritancegenetic heterogeneityphenotypic heterogeneitypulmonary hypertensionbone morphogenetic protein receptor 2signalingrepurposed drugspharmaceuticalsmiRNAclinical trialsResearch & information: generalBiology, life sciencesGenetics (non-medical)Southgate Lauraedt989850Machado RajivedtSouthgate LauraothMachado RajivothBOOK9910595078603321Genetics and Genomics of Pulmonary Arterial Hypertension3033981UNINA