Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. - Wikidata - wikimedia - TriplyDB

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.

http://www.wikidata.org/entity/Q35221739

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Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations Retinal dystrophies, genomic applications in diagnosis and prospects for therapy Protein and Signaling Networks in Vertebrate Photoreceptor Cells AAV-mediated gene therapy in mouse models of recessive retinal degeneration Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease Chromosome 1 Sequence Analysis of C57BL/6J-Chr1KM Mouse Strain.From caveman companion to medical innovator: genomic insights into the origin and evolution of domestic dogs.Temporal ChIP-on-Chip of RNA-Polymerase-II to detect novel gene activation events during photoreceptor maturation.Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis.Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice.RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells.Discovery Genetics - The History and Future of Spontaneous Mutation Research.The genetics of eye disorders in the dog Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.Ciliopathies: an expanding disease spectrum.The novel long noncoding RNA linc00467 promotes cell survival but is down-regulated by N-Myc Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family Targeting of mouse guanylate cyclase 1 (Gucy2e) to Xenopus laevis rod outer segments.Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations.Dimerization Domain of Retinal Membrane Guanylyl Cyclase 1 (RetGC1) Is an Essential Part of Guanylyl Cyclase-activating Protein (GCAP) Binding Interface.Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.RD3 loss dictates high-risk aggressive neuroblastoma and poor clinical outcomes.Changes in gene expression associated with retinal degeneration in the rd3 mouse.Genetic modifiers of retinal degeneration in the rd3 mouse.Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3.RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12.Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.Mutation survey of known LCA genes and loci in the Saudi Arabian population Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India Mouse models for studies of retinal degeneration and diseases.Functional study of two biochemically unusual mutations in GUCY2D Leber congenital amaurosis expressed via adenoassociated virus vector in mouse retinas.Naturally occurring animal models with outer retina phenotypes.Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.Functional Study and Mapping Sites for Interaction with the Target Enzyme in Retinal Degeneration 3 (RD3) Protein.Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins.

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P2860

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.

http://www.wikidata.org/entity/Q35221739

description

2006 nî lūn-bûn

@nan

2006 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2006 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

@wuu

name

Premature truncation of a nove ...... ted with retinal degeneration.

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Premature truncation of a nove ...... ted with retinal degeneration.

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type

label

Premature truncation of a nove ...... ted with retinal degeneration.

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Premature truncation of a nove ...... ted with retinal degeneration.

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prefLabel

Premature truncation of a nove ...... ted with retinal degeneration.

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Premature truncation of a nove ...... ted with retinal degeneration.

@en

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P1433

American Journal of Human Genetics

P1476

Premature truncation of a nove ...... ted with retinal degeneration.

@en

P2093

Andrew R Webster

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Bo Chang

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Christina Chakarova

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Debra A Thompson

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Elena Filippova

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James S Friedman

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John R Heckenlively

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Norman L Hawes

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Shomi S Bhattacharya

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Sten Andréasson

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P2860

CAJAL BODIES: A Long History of Discovery

Nuclear speckles: a model for nuclear organelles

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

Implication of tubby proteins as transcription factors by structure-based functional analysis

Predicting coiled coils from protein sequences

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

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1059-1070

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scholarly article

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10.1086/510021

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P433

6

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P478

79

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Samuel G. Jacobson

Chitra Kannabiran

Hardeep Pal Singh

Mohammad Othman

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2006-10-23T00:00:00Z

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6614925

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17186464

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Retinal degeneration 3

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1698706

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