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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 |
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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Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function
| Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function |
| Autore | Duddy William |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 electronic resource (318 p.) |
| Soggetto topico | Research & information: general |
| Soggetto non controllato |
LMNA
Emery-Dreifuss muscular dystrophy Omics ALS MND ALS variants genotype-phenotype ALS genes FSHD DUX4 transcription muscle regulation spinal muscular atrophy adult patients disease heterogeneity Nusinersen disease modifiers functional outcomes biomarkers epigenetic changes -omics approaches oxidative stress mitochondria dysfunction axonal transport autophagy endocytosis secretion excitotoxicity RNA metabolism Duchenne muscular dystrophy (DMD) exon-skipping therapies next-generation sequencing (NGS) Sanger sequencing multiplex ligation probe amplification (MLPA) multiplex polymerase chain reaction (PCR) comparative genomic hybridization array (CGH) viltolarsen eteplirsen golodirsen rheumatoid arthritis SNP DMARD methotrexate pharmacogenomics Duchenne muscular dystrophy pharmacodynamic biomarkers prednisone deflazacort glucocorticoids corticosteroids safety neuromuscular diseases translational research disease models precision medicine miRNA proteomics calprotectin dystrophy Becker muscular dystrophy dystrophinopathy genotype-phenotype correlations Canadian Neuromuscular Disease Registry reading frame rule dystrophin multiple logistic regression analysis exon skipping therapy Amyotrophic Lateral Sclerosis machine learning genome-wide association studies GWAS genomics ALS pathology gene prioritization AAV genetic neuromuscular disorders gene therapy clinical trials toxicity SMA DMD XLMTM facioscapulohumeral dystrophy TALEN CRISPR-Cas9 gene editing polyadenylation D4Z4 duchenne muscular dystrophy (DMD) becker muscular dystrophy (BMD) exon skipping skip-equivalent deletions |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Understanding Neuromuscular Health and Disease |
| Record Nr. | UNINA-9910557669103321 |
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Duddy William
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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