LEADER 03741nam 2201021z- 450 001 9910595078603321 005 20231214133154.0 035 $a(CKB)5680000000080739 035 $a(oapen)https://directory.doabooks.org/handle/20.500.12854/92130 035 $a(EXLCZ)995680000000080739 100 $a20202209d2022 |y 0 101 0 $aeng 135 $aurmn|---annan 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aGenetics and Genomics of Pulmonary Arterial Hypertension 210 $aBasel$cMDPI Books$d2022 215 $a1 electronic resource (188 p.) 311 $a3-0365-4829-7 311 $a3-0365-4830-0 330 $aPulmonary 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. 606 $aResearch & information: general$2bicssc 606 $aBiology, life sciences$2bicssc 606 $aGenetics (non-medical)$2bicssc 610 $apulmonary arterial hypertension 610 $amassive parallel sequencing 610 $aNGS 610 $adigenic inheritance 610 $aand genetics 610 $aBMPR2 promoter 610 $apathogenic variant 610 $aheritable pulmonary arterial hypertension 610 $agenetic analysis 610 $aNGS gene panel 610 $aBMPR2 610 $aTBX4 610 $aGDF2 610 $aEIF2AK4 610 $agenomics 610 $apediatrics 610 $alung disease 610 $aendothelial cells 610 $asmooth muscle cells 610 $aDNA damage 610 $aDNA repair 610 $aexpression quantitative trait locus 610 $aeQTL 610 $ablood 610 $agenetics 610 $aexome sequencing 610 $amolecular genetics 610 $apaediatrics 610 $abone morphogenetic protein receptor type 2 610 $aheritable 610 $afamilial 610 $aestrogen 610 $aestradiol 610 $apenetrance 610 $agender 610 $aPAH 610 $aforward phenotyping 610 $aforward genetics 610 $areverse genetics 610 $areverse phenotyping 610 $aintermediate phenotypes 610 $awhole-genome sequencing 610 $aepigenetic inheritance 610 $agenetic heterogeneity 610 $aphenotypic heterogeneity 610 $apulmonary hypertension 610 $abone morphogenetic protein receptor 2 610 $asignaling 610 $arepurposed drugs 610 $apharmaceuticals 610 $amiRNA 610 $aclinical trials 615 7$aResearch & information: general 615 7$aBiology, life sciences 615 7$aGenetics (non-medical) 700 $aSouthgate$b Laura$4edt$0989850 702 $aMachado$b Rajiv$4edt 702 $aSouthgate$b Laura$4oth 702 $aMachado$b Rajiv$4oth 906 $aBOOK 912 $a9910595078603321 996 $aGenetics and Genomics of Pulmonary Arterial Hypertension$93033981 997 $aUNINA