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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 electronic resource (119 p.) |
| Soggetto topico |
Science: general issues
Medical genetics |
| Soggetto non controllato |
Rare disease
Genomics Next generation sequencing transgenic genetic analysis |
| 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 electronic resource (272 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
pheochromocytoma
paraganglioma genetics non-coding RNA malignancy biomarker treatment adaptive metabolism adrenal gland conn adenoma fatty acid metabolism ferroptosis hyperaldosteronism metabolic reprogramming β-oxidation PPARα tumor microenvironment Next Generation Sequencing hereditary cancer endocrine tumor syndrome KCNJ5 somatic mutation pulse wave velocity aldosterone-producing adenoma adrenalectomy propensity score matching arterial stiffness pheochromocytomas paragangliomas mutations susceptibility genes driver mutations hereditary germline somatic environment variants tumor suppressor genes metastatic RNAseq next generation sequencing adrenocortical carcinoma in silico analysis machine learning bioinformatic clustering biomarker prediction aldosterone producing adenoma ATP2B3 K416-F418delinsN mutation primary aldosteronism PPGL telomeres TERT ATRX NOP10 prognostic biomarker ALT phaeochromocytoma cancer mitochondrial complex II zebrafish therapy drug discovery redox balance pathway Vitamin C mitotane H295 strains microRNA aldosterone circulating adrenocortical transcriptomics epigenetics metabolomics epidemiology genetic analysis mortality surveillance TP53 R337H genetic testing adrenocortical tumor neonatal screening screening adenoma adrenal tissue artificial intelligence neural network |
| 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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