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...
Tallennettuna:
| Aineistotyyppi: | Online |
|---|---|
| Kieli: | englanti |
| Julkaistu: |
MDPI - Multidisciplinary Digital Publishing Institute
2023
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| Aiheet: | |
| Linkit: | ONIX_20230220_9783036548296_20 |
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| _version_ | 1869527641527156736 |
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| collection | Directory of Open Access Books |
| description | 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. |
| format | Online |
| id | doab-20.500.12854ir-97417 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2023 |
| publishDateRange | 2023 |
| publishDateSort | 2023 |
| publisher | MDPI - Multidisciplinary Digital Publishing Institute |
| publisherStr | MDPI - Multidisciplinary Digital Publishing Institute |
| record_format | ojs |
| spelling | doab-20.500.12854ir-974172024-03-28T03:31:30Z Genetics and Genomics of Pulmonary Arterial Hypertension Southgate, Laura Machado, Rajiv 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 thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAK Genetics (non-medical) 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. 2023-02-20T16:43:27Z 2023-02-20T16:43:27Z 2022 book ONIX_20230220_9783036548296_20 9783036548296 9783036548302 https://directory.doabooks.org/handle/20.500.12854/97417 eng image/jpeg Attribution 4.0 International https://mdpi.com/books/pdfview/book/6007 MDPI - Multidisciplinary Digital Publishing Institute 10.3390/books978-3-0365-4830-2 10.3390/books978-3-0365-4830-2 46cabcaa-dd94-4bfe-87b4-55023c1b36d0 9783036548296 9783036548302 188 Basel open access |
| spellingShingle | 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 thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAK Genetics (non-medical) Genetics and Genomics of Pulmonary Arterial Hypertension |
| title | 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_short | Genetics and Genomics of Pulmonary Arterial Hypertension |
| title_sort | genetics and genomics of pulmonary arterial hypertension |
| topic | 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 thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAK Genetics (non-medical) |
| topic_facet | 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 thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAK Genetics (non-medical) |
| url | ONIX_20230220_9783036548296_20 |