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Molecular Basis of Inherited Diseases in Companion Animals
| Molecular Basis of Inherited Diseases in Companion Animals |
| Autore | Bannasch Danika |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 electronic resource (232 p.) |
| Soggetto topico |
Research & information: general
Biology, life sciences |
| Soggetto non controllato |
Canis familiaris
dermatology immunology animal model skin TLR7 toll-like receptor syndecan binding protein syntenin-1 systemic lupus erythematosus SLE CLE whole-genome sequencing craniomandibular osteopathy calvarial hyperostotic syndrome Caffey disease infantile cortical hyperostosis rare disease SLC37A2 COL1A1 SLC35D1 Canis lupus familiaris whole-genome sequence genodermatosis keratinocyte SAM syndrome precision medicine dog desmosome acantholysis calcium veterinary medicine feline Felis catus brain malformation BMP12 neurodevelopment genetics genomics mendelian traits genome-wide association study whole genome sequencing mitochondrion phosphoenolpyruvate-carboxykinase inborn error of metabolism encephalopathy SSADHD ALDH5A1 GABA 4-hydroxybutyric acid succinic semialdehyde GWAS inherited whole genome sequence wgs laminin Bardet-Biedl syndrome (BBS) primary cilia ciliopathy BBS8 progressive retinal atrophy (PRA) retinitis pigmentosa canine dystrophinopathy Duchenne immunohistochemistry neurometabolic disorder CHILD syndrome ILVEN epidermal nevus diabetes mellitus Burmese cats susceptibility single-nucleotide polymorphism genetic markers LIPH obesity companion animals metabolic disease comparative genomics dogs cats horses contactin neurological disorder Leonberger Saint Bernard Labrador retriever |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557141403321 |
Bannasch Danika
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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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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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