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Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research
| Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research |
| Autore | Gouw Arvin M |
| Pubbl/distr/stampa | Frontiers Media SA, 2020 |
| Descrizione fisica | 1 online resource (119 p.) |
| Soggetto topico |
Medical genetics
Science: general issues |
| Soggetto non controllato |
genetic analysis
Genomics Next generation sequencing Rare disease transgenic |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557223103321 |
Gouw Arvin M
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| Frontiers Media SA, 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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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 |
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Southgate Laura
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| Basel, : MDPI Books, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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New Insights in the Genetics and Genomics of Adrenocortical Tumors and Pheochromocytomas
| New Insights in the Genetics and Genomics of Adrenocortical Tumors and Pheochromocytomas |
| Autore | Igaz Peter |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 online resource (272 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
adaptive metabolism
adenoma adrenal adrenal gland adrenalectomy adrenocortical adrenocortical carcinoma adrenocortical tumor aldosterone aldosterone producing adenoma aldosterone-producing adenoma ALT arterial stiffness artificial intelligence ATP2B3 ATRX bioinformatic clustering biomarker biomarker prediction cancer circulating conn adenoma driver mutations drug discovery endocrine tumor syndrome environment epidemiology epigenetics fatty acid metabolism ferroptosis genetic analysis genetic testing genetics germline H295 strains hereditary hereditary cancer hyperaldosteronism in silico analysis K416-F418delinsN mutation KCNJ5 somatic mutation machine learning malignancy metabolic reprogramming metabolomics metastatic microRNA mitochondrial complex II mitotane mortality mutations n/a neonatal screening neural network next generation sequencing Next Generation Sequencing non-coding RNA NOP10 paraganglioma paragangliomas phaeochromocytoma pheochromocytoma pheochromocytomas PPARα PPGL primary aldosteronism prognostic biomarker propensity score matching pulse wave velocity redox balance pathway RNAseq screening somatic surveillance susceptibility genes telomeres TERT therapy tissue TP53 R337H transcriptomics treatment tumor microenvironment tumor suppressor genes variants Vitamin C zebrafish β-oxidation |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557609003321 |
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Igaz Peter
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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