Genetics and Genomics of Pulmonary Arterial Hypertension

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...

Full description

Saved in:
Bibliographic Details
HerausgeberIn:
Sonstige:
Year of Publication:2022
Language:English
Physical Description:1 electronic resource (188 p.)
Tags: Add Tag
No Tags, Be the first to tag this record!
LEADER 03515nam-a2200961z--4500
001 993560445204498
005 20231214133154.0
006 m o d
007 cr|mn|---annan
008 202209s2022 xx |||||o ||| 0|eng d
035 |a (CKB)5680000000080739 
035 |a (oapen)https://directory.doabooks.org/handle/20.500.12854/92130 
035 |a (EXLCZ)995680000000080739 
041 0 |a eng 
100 1 |a Southgate, Laura  |4 edt 
245 1 0 |a Genetics and Genomics of Pulmonary Arterial Hypertension 
260 |a Basel  |b MDPI Books  |c 2022 
300 |a 1 electronic resource (188 p.) 
336 |a text  |b txt  |2 rdacontent 
337 |a computer  |b c  |2 rdamedia 
338 |a online resource  |b cr  |2 rdacarrier 
520 |a 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. 
546 |a English 
650 7 |a Research & information: general  |2 bicssc 
650 7 |a Biology, life sciences  |2 bicssc 
650 7 |a Genetics (non-medical)  |2 bicssc 
653 |a pulmonary arterial hypertension 
653 |a massive parallel sequencing 
653 |a NGS 
653 |a digenic inheritance 
653 |a and genetics 
653 |a BMPR2 promoter 
653 |a pathogenic variant 
653 |a heritable pulmonary arterial hypertension 
653 |a genetic analysis 
653 |a NGS gene panel 
653 |a BMPR2 
653 |a TBX4 
653 |a GDF2 
653 |a EIF2AK4 
653 |a genomics 
653 |a pediatrics 
653 |a lung disease 
653 |a endothelial cells 
653 |a smooth muscle cells 
653 |a DNA damage 
653 |a DNA repair 
653 |a expression quantitative trait locus 
653 |a eQTL 
653 |a blood 
653 |a genetics 
653 |a exome sequencing 
653 |a molecular genetics 
653 |a paediatrics 
653 |a bone morphogenetic protein receptor type 2 
653 |a heritable 
653 |a familial 
653 |a estrogen 
653 |a estradiol 
653 |a penetrance 
653 |a gender 
653 |a PAH 
653 |a forward phenotyping 
653 |a forward genetics 
653 |a reverse genetics 
653 |a reverse phenotyping 
653 |a intermediate phenotypes 
653 |a whole-genome sequencing 
653 |a epigenetic inheritance 
653 |a genetic heterogeneity 
653 |a phenotypic heterogeneity 
653 |a pulmonary hypertension 
653 |a bone morphogenetic protein receptor 2 
653 |a signaling 
653 |a repurposed drugs 
653 |a pharmaceuticals 
653 |a miRNA 
653 |a clinical trials 
776 |z 3-0365-4829-7 
776 |z 3-0365-4830-0 
700 1 |a Machado, Rajiv  |4 edt 
700 1 |a Southgate, Laura  |4 oth 
700 1 |a Machado, Rajiv  |4 oth 
906 |a BOOK 
ADM |b 2023-12-15 05:45:30 Europe/Vienna  |f system  |c marc21  |a 2022-09-22 08:09:39 Europe/Vienna  |g false 
AVE |i DOAB Directory of Open Access Books  |P DOAB Directory of Open Access Books  |x https://eu02.alma.exlibrisgroup.com/view/uresolver/43ACC_OEAW/openurl?u.ignore_date_coverage=true&portfolio_pid=5344131550004498&Force_direct=true  |Z 5344131550004498  |b Available  |8 5344131550004498