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...
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| Year of Publication: | 2022 |
| Language: | English |
| Physical Description: | 1 electronic resource (188 p.) |
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Southgate, Laura edt Genetics and Genomics of Pulmonary Arterial Hypertension Basel MDPI Books 2022 1 electronic resource (188 p.) text txt rdacontent computer c rdamedia online resource cr rdacarrier 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. English Research & information: general bicssc Biology, life sciences bicssc Genetics (non-medical) bicssc 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 3-0365-4829-7 3-0365-4830-0 Machado, Rajiv edt Southgate, Laura oth Machado, Rajiv oth |
| language |
English |
| format |
eBook |
| author2 |
Machado, Rajiv Southgate, Laura Machado, Rajiv |
| author_facet |
Machado, Rajiv Southgate, Laura Machado, Rajiv |
| author2_variant |
l s ls r m rm |
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HerausgeberIn Sonstige Sonstige |
| title |
Genetics and Genomics of Pulmonary Arterial Hypertension |
| spellingShingle |
Genetics and Genomics of Pulmonary Arterial Hypertension |
| title_full |
Genetics and Genomics of Pulmonary Arterial Hypertension |
| title_fullStr |
Genetics and Genomics of Pulmonary Arterial Hypertension |
| title_full_unstemmed |
Genetics and Genomics of Pulmonary Arterial Hypertension |
| title_auth |
Genetics and Genomics of Pulmonary Arterial Hypertension |
| title_new |
Genetics and Genomics of Pulmonary Arterial Hypertension |
| title_sort |
genetics and genomics of pulmonary arterial hypertension |
| publisher |
MDPI Books |
| publishDate |
2022 |
| physical |
1 electronic resource (188 p.) |
| isbn |
3-0365-4829-7 3-0365-4830-0 |
| illustrated |
Not Illustrated |
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Genetics and Genomics of Pulmonary Arterial Hypertension |
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