Genetics and Genomics of Pulmonary Arterial Hypertension

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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Bibliographic Details
Other Authors: Southgate, Laura (Editor), Machado, Rajiv (Editor)
Format: Electronic Book Chapter
Language:English
Published: Basel MDPI - Multidisciplinary Digital Publishing Institute 2022
Subjects:
Research & information: general
Genetics (non-medical)
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
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Description
Summary: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.
Physical Description:1 electronic resource (188 p.)
ISBN:books978-3-0365-4830-2
9783036548296
9783036548302
Access:Open Access

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