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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 online resource (232 p.) |
| Soggetto topico |
Biology, life sciences
Research and information: general |
| Soggetto non controllato |
4-hydroxybutyric acid
acantholysis ALDH5A1 animal model Bardet-Biedl syndrome (BBS) BBS8 BMP12 brain malformation Burmese cats Caffey disease calcium calvarial hyperostotic syndrome canine Canis familiaris Canis lupus familiaris cats CHILD syndrome ciliopathy CLE COL1A1 companion animals comparative genomics contactin craniomandibular osteopathy dermatology desmosome diabetes mellitus dog dogs Duchenne dystrophinopathy encephalopathy epidermal nevus feline Felis catus GABA genetic markers genetics genodermatosis genome-wide association study genomics GWAS horses ILVEN immunohistochemistry immunology inborn error of metabolism infantile cortical hyperostosis inherited keratinocyte Labrador retriever laminin Leonberger LIPH mendelian traits metabolic disease mitochondrion n/a neurodevelopment neurological disorder neurometabolic disorder obesity phosphoenolpyruvate-carboxykinase precision medicine primary cilia progressive retinal atrophy (PRA) rare disease retinitis pigmentosa Saint Bernard SAM syndrome single-nucleotide polymorphism skin SLC35D1 SLC37A2 SLE SSADHD succinic semialdehyde susceptibility syndecan binding protein syntenin-1 systemic lupus erythematosus TLR7 toll-like receptor veterinary medicine wgs whole genome sequence whole genome sequencing whole-genome sequence whole-genome sequencing |
| 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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Molecular Therapies for Inherited Retinal Diseases
| 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 online resource (262 p.) |
| Soggetto topico |
Biology, life sciences
Research & information: general |
| Soggetto non controllato |
AAV
ABCA4 adeno-associated viral adeno-associated virus (AAV) allele-specific knockdown antisense oligonucleotides AON-mediated exon skipping apical polarity apoptosis ARPE-19 cells autophagy autosomal dominant bipolar cells CEP290 chaperones chaperonins choroideremia Cilia elongation clathrin-coated vesicles clinical trials clustered regularly interspaced short palindromic repeats (CRISPR) compound therapies cones crumbs complex cyclic GMP DNA therapies DNA-wrapped gold nanoparticles drug delivery systems dual AAV endosomal trafficking Enhanced S-Cone Syndrome (ESCS) fetal retina Flanders founder c.4723A > G56R gapmer antisense oligonucleotides gene augmentation gene therapy gold nanoparticles heat shock response homology-directed repair (HDR) induced pluripotent stem cell (iPSC) inherited retinal disease inherited retinal diseases iPSC-derived photoreceptor precursor cells IRD Leber congenital amaurosis Leber congenital amaurosis and allied retinal ciliopathies microRNA Müller glia n/a necrosis nonprofit NR2E3 PAR complex patient registry photoreceptors protein degradation protein folding protein trafficking putative dominant negative effect REP1 retina retinal degeneration retinal inherited disorders retinal organoids retinal pigment epithelium retinitis pigmentosa Retinitis Pigmentosa (RP) Retinitis Pigmentosa GTPase Regulator retinogenesis RNA therapies RNA therapy rods RPE65 splicing modulation spontaneous nonsense correction Stargardt disease T nonsense mutation therapy translational translational medicine treatment unfolded protein response Usher syndrome |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910674051103321 |
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Collin Rob W.J
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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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