(Q34312941)

1 August 2017

1 reference

title

Pathways to photoreceptor cell death in inherited retinal degenerations (English)

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1 August 2017

photoreceptor protein

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1 reference

Pierce EA

1

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PubMed ID

11462214

1 August 2017

language of work or name

English

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publication date

1 July 2001

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1 August 2017

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1 August 2017

23

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1 August 2017

605-618

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1 August 2017

7

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A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa

1 August 2017

1 reference

Amplification and kinetics of the activation steps in phototransduction

21 January 2018

1 reference

Molecular genetics of human retinal disease

21 January 2018

1 reference

Mechanisms of cell death in the inherited retinal degenerations

21 January 2018

1 reference

Cyclic guanosine monophosphate: elevation in degenerating photoreceptor cells of the C3H mouse retina

21 January 2018

1 reference

Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase

21 January 2018

1 reference

Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse

21 January 2018

1 reference

Retinal degeneration is rescued in transgenic rd mice by expression of the cGMP phosphodiesterase beta subunit

21 January 2018

1 reference

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

21 January 2018

1 reference

Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness

21 January 2018

1 reference

Apoptosis: final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice

21 January 2018

1 reference

Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene

21 January 2018

1 reference

Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)

21 January 2018

1 reference

Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse

21 January 2018

1 reference

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

21 January 2018

1 reference

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

21 January 2018

1 reference

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

21 January 2018

1 reference

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

21 January 2018

1 reference

Changes in the localization and content of opsin during retinal development in the rds mutant mouse: immunocytochemistry and immunoassay

21 January 2018

1 reference

Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat

21 January 2018

1 reference

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

21 January 2018

1 reference

Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments

21 January 2018

1 reference

Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene

21 January 2018

1 reference

Ribozyme rescue of photoreceptor cells in a transgenic rat model of autosomal dominant retinitis pigmentosa.

21 January 2018

1 reference

Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa

21 January 2018

1 reference

Retinal rod photoreceptor-specific gene mutation perturbs cone pathway development.

21 January 2018

1 reference

Morphological, physiological, and biochemical changes in rhodopsin knockout mice

21 January 2018

1 reference

Structural and functional rescue of murine rod photoreceptors by human rhodopsin transgene.

21 January 2018

1 reference

Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa

21 January 2018

1 reference

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

21 January 2018

1 reference

A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese

21 January 2018

1 reference

Prolonged photoresponses in transgenic mouse rods lacking arrestin

21 January 2018

1 reference

Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness

21 January 2018

1 reference

Abnormal photoresponses and light-induced apoptosis in rods lacking rhodopsin kinase

21 January 2018

1 reference

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

21 January 2018

1 reference

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

21 January 2018

1 reference

Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice

21 January 2018

1 reference

Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration

21 January 2018

1 reference

Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

21 January 2018

1 reference

Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.

21 January 2018

1 reference

Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness

21 January 2018

1 reference

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

21 January 2018

1 reference

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

21 January 2018

1 reference

Retinopathy and attenuated circadian entrainment in Crx-deficient mice.

21 January 2018

1 reference

Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 11p15.

21 January 2018

1 reference

Retinal degeneration in the pcd cerebellar mutant mouse. II. Electron microscopic analysis.

21 January 2018

1 reference

Retinal degeneration in mice lacking the gamma subunit of the rod cGMP phosphodiesterase

21 January 2018

1 reference

Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa

21 January 2018

1 reference

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

21 January 2018

1 reference

Cre recombinase: The universal reagent for genome tailoring

21 January 2018

1 reference

Oligonucleotide-based inhibition of embryonic gene expression.

21 January 2018

1 reference

Gene therapy and retinitis pigmentosa: advances and future challenges

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/BIES.1086

1 reference

1 August 2017

1 reference

PubMed ID

11462214