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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.

Research & information: general --- Biology, life sciences --- 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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Summary of Genes. Thirty years ago, the gene responsible for cystic fibrosis (CF), a recessive genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene, was identified. This progress has considerably changed our understanding of the pathophysiology of CF and has paved the way for the development of novel and specific therapies for the disease. The CFTR gene contains 27 exons and is characterized by a frequent three base pair deletion of the p.Phe508del. As a result of collaborative work, today more than 2000 mutations have been reported in the gene, and their impact on protein function is now more evident and useful in designing new strategies to correct the gene defect. The field of gene therapy, as illustrated by Ziying Yan in this book, has worked on identifying an efficient vector system for the delivery of the wild-type CFTR gene to the lung. At the same time, animal models have been developed in mice, rats, rabbits, zebrafish, ferrets, and pigs to establish the efficacity of gene delivery. These animals are also of the utmost importance in testing new molecules as modulators or correctors to improve the CFTR lung function. During the last three decades, the epidemiology of CF has dramatically changed, as today cystic fibrosis is now a chronic adult pulmonary disease.

cystic fibrosis --- Staphylococcus aureus --- superantigen --- enterotoxin gene cluster --- MRSA --- exosomes --- microvesicles --- lung --- primary cells --- newborn screening --- trypsinogen --- CFTR gene --- next generation sequencing --- health policy --- rAAV2/HBoV1 --- baculovirus --- insect cells --- lung microbiome --- metagenomics --- gut–lung axis --- Cystic fibrosis --- CFTR --- transcriptomics --- proteostasis --- small molecules --- drug development --- common and new pathogenic variants --- ethnic Russian population --- gene therapy --- cyclophosphamide --- transient immunosuppression --- incidence --- survival --- genotype-phenotype correlations --- health policies --- CFTR modulators --- human nasal epithelial cells --- organoids --- biomarker --- functional assay --- pre-clinical in vitro models --- CFTR-related disorders --- molecular diagnosis --- CFTR variants --- Next Generation Sequencing (NGS) --- disease liability --- interpretation --- penetrance --- genotype-guided therapy --- miRNA --- airway basal cell --- lentivirus

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575.164 --- 577.218 --- 577.113 --- Mechanism of gene expression. Pleistropy --- Molecular mechanisms of control : gene expression. Molecular embryology --- PROTEINS --- biochemical --- microbial --- 576.316 --- biochemical. --- microbial. --- 576.316 Chromosomes --- 577.218 Molecular mechanisms of control : gene expression. Molecular embryology --- 575.164 Mechanism of gene expression. Pleistropy --- 577.113 Nucleic acids --- Biochemical. --- Microbial. --- 575.117 --- Expressivity and penetrance of genes --- Viral genetics --- 578.5 Viral genetics --- 575.117 Expressivity and penetrance of genes --- Genetics, Microbial. --- Molecular Biology. --- Protein Biosynthesis. --- #WPLT:dd.prof.J.Vendrig --- Chromosomes --- Protein Biosynthesis, Ribosomal --- Protein Synthesis, Ribosomal --- Ribosomal Peptide Biosynthesis --- mRNA Translation --- Genetic Translation --- Peptide Biosynthesis, Ribosomal --- Protein Translation --- Translation, Genetic --- Biosynthesis, Protein --- Biosynthesis, Ribosomal Peptide --- Biosynthesis, Ribosomal Protein --- Genetic Translations --- Ribosomal Protein Biosynthesis --- Ribosomal Protein Synthesis --- Synthesis, Ribosomal Protein --- Translation, Protein --- Translation, mRNA --- mRNA Translations --- Proteins --- Genetic Code --- Peptide Biosynthesis --- Codon, Initiator --- Codon, Terminator --- Biochemical Genetics --- Biology, Molecular --- Genetics, Biochemical --- Genetics, Molecular --- Molecular Genetics --- Biochemical Genetic --- Genetic, Biochemical --- Genetic, Molecular --- Molecular Genetic --- Genetic Phenomena --- Microbial Genetics --- Genetic, Microbial --- Microbial Genetic --- Virus Physiological Phenomena --- Bacterial Physiological Phenomena --- Genome, Microbial --- biosynthesis --- 579.25 --- 579.25 Microbial genetics --- Microbial genetics --- Nucleic acids --- 579.252.5 --- 578.5 --- 579.252.5 Extrachromosomal hereditary determinants. Episomes. Plasmide. --- Extrachromosomal hereditary determinants. Episomes. Plasmide. --- Gene expression --- Gene expression. --- Genetics --- Molecular biology. --- Molecular genetics. --- Biosynthesis. --- Genetics, Microbial --- Molecular Biology --- Protein Biosynthesis

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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.

Research & information: general --- Biology, life sciences --- 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 --- 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