Retinitis pigmentosa: genes and disease mechanisms. - Wikidata - thesis-toulmin - TriplyDB

Retinitis pigmentosa: genes and disease mechanisms.

Retinitis pigmentosa: genes and disease mechanisms.

http://www.wikidata.org/entity/Q35092179

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Concise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye Disease The Role of the Endothelin System in the Vascular Dysregulation Involved in Retinitis Pigmentosa Defining the catalytic activity of nanoceria in the P23H-1 rat, a photoreceptor degeneration model Negative regulation of the novel norpA(P24) suppressor, diehard4, in the endo-lysosomal trafficking underlies photoreceptor cell degeneration Prp8 retinitis pigmentosa mutants cause defects in the transition between the catalytic steps of splicing.Induced Pluripotent Stem Cells: Development in the Ophthalmologic Field Biology and therapy of inherited retinal degenerative disease: insights from mouse models Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degeneration Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.Comparative sequence analyses of rhodopsin and RPE65 reveal patterns of selective constraint across hereditary retinal disease mutations.Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.A novel immunodeficient NOD.SCID-rd1 mouse model of retinitis pigmentosa to investigate potential therapeutics and pathogenesis of retinal degeneration Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants.A novel mutation in C5L2 gene was associated with hyperlipidemia and retinitis pigmentosa in a Chinese family A multiplex high-throughput gene expression assay to simultaneously detect disease and functional markers in induced pluripotent stem cell-derived retinal pigment epithelium.A profile of transcriptomic changes in the rd10 mouse model of retinitis pigmentosa.IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies.The proteome of human retina Transplantation of embryonic and induced pluripotent stem cell-derived 3D retinal sheets into retinal degenerative mice.Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory.Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing Identification of a novel heterozygous missense mutation in the CACNA1F gene in a chinese family with retinitis pigmentosa by next generation sequencing.Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.Nanoparticle-based technologies for retinal gene therapy Mfsd2a Is a Transporter for the Essential ω-3 Fatty Acid Docosahexaenoic Acid (DHA) in Eye and Is Important for Photoreceptor Cell Development Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.Characterization of conformational changes and protein-protein interactions of rod photoreceptor phosphodiesterase (PDE6).The Time Course of Deafness and Retinal Degeneration in a Kunming Mouse Model for Usher Syndrome.Functional mapping of interacting regions of the photoreceptor phosphodiesterase (PDE6) γ-subunit with PDE6 catalytic dimer, transducin, and regulator of G-protein signaling9-1 (RGS9-1).SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones.Human pluripotent stem cells: applications and challenges in neurological diseases.Modeling of autosomal-dominant retinitis pigmentosa in Caenorhabditis elegans uncovers a nexus between global impaired functioning of certain splicing factors and cell type-specific apoptosis.Nanoparticle-motivated gene delivery for ophthalmic application Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

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P2860

Retinitis pigmentosa: genes and disease mechanisms.

http://www.wikidata.org/entity/Q35092179

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2011 nî lūn-bûn

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2011 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2011 թվականի հունիսին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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Retinitis pigmentosa: genes and disease mechanisms.

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Retinitis pigmentosa: genes and disease mechanisms.

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Retinitis pigmentosa: genes and disease mechanisms.

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Retinitis pigmentosa: genes and disease mechanisms.

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Retinitis pigmentosa: genes and disease mechanisms.

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Retinitis pigmentosa: genes and disease mechanisms.

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Current Genomics

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Retinitis pigmentosa: genes and disease mechanisms

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Diego Ponzin

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Enzo Di Iorio

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Francesco Parmeggiani

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Francesco S Sorrentino

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Vanessa Barbaro

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P2860

Retinitis pigmentosa

RPE65 is the isomerohydrolase in the retinoid visual cycle

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study

Safety and efficacy of gene transfer for Leber's congenital amaurosis

Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?

Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28

Effect of gene therapy on visual function in Leber's congenital amaurosis

Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa

RP1 is required for the correct stacking of outer segment discs

The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein

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