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Genetics and Genomics of Pulmonary Arterial Hypertension
| Genetics and Genomics of Pulmonary Arterial Hypertension |
| Autore | Southgate Laura |
| Pubbl/distr/stampa | Basel, : MDPI Books, 2022 |
| Descrizione fisica | 1 electronic resource (188 p.) |
| Soggetto topico |
Research & information: general
Biology, life sciences Genetics (non-medical) |
| Soggetto non controllato |
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 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910595078603321 |
Southgate Laura
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| Basel, : MDPI Books, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Molecular Basis and Gene Therapies of Cystic Fibrosis
| Molecular Basis and Gene Therapies of Cystic Fibrosis |
| Autore | Engelhardt John |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2020 |
| Descrizione fisica | 1 electronic resource (210 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
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 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557392203321 |
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Engelhardt John
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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