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 | ||
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Lo trovi qui: Univ. Federico II | ||
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Molecular Therapies for Inherited Retinal Diseases |
Autore | Collin Rob W.J |
Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2020 |
Descrizione fisica | 1 electronic resource (262 p.) |
Soggetto topico |
Research & information: general
Biology, life sciences |
Soggetto non controllato |
induced pluripotent stem cell (iPSC)
clustered regularly interspaced short palindromic repeats (CRISPR) homology-directed repair (HDR) Enhanced S-Cone Syndrome (ESCS) NR2E3 AAV retina gene therapy dual AAV gold nanoparticles DNA-wrapped gold nanoparticles ARPE-19 cells retinal pigment epithelium clathrin-coated vesicles endosomal trafficking retinitis pigmentosa autosomal dominant G56R putative dominant negative effect gapmer antisense oligonucleotides allele-specific knockdown Leber congenital amaurosis and allied retinal ciliopathies CEP290 Flanders founder c.4723A > T nonsense mutation Cilia elongation spontaneous nonsense correction AON-mediated exon skipping microRNA photoreceptors rods cones bipolar cells Müller glia retinal inherited disorders retinal degeneration antisense oligonucleotides Stargardt disease inherited retinal diseases splicing modulation RNA therapy ABCA4 iPSC-derived photoreceptor precursor cells cyclic GMP apoptosis necrosis drug delivery systems translational medicine Usher syndrome Leber congenital amaurosis RPE65 nonprofit patient registry translational protein trafficking protein folding protein degradation chaperones chaperonins heat shock response unfolded protein response autophagy therapy IRD DNA therapies RNA therapies compound therapies clinical trials Retinitis Pigmentosa GTPase Regulator adeno-associated viral Retinitis Pigmentosa (RP) choroideremia REP1 inherited retinal disease treatment apical polarity crumbs complex fetal retina PAR complex retinal organoids retinogenesis gene augmentation adeno-associated virus (AAV) |
Formato | Materiale a stampa ![]() |
Livello bibliografico | Monografia |
Lingua di pubblicazione | eng |
Record Nr. | UNINA-9910674051103321 |
Collin Rob W.J
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Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2020 | ||
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Lo trovi qui: Univ. Federico II | ||
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