A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.
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Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP)Retinal dystrophies, genomic applications in diagnosis and prospects for therapyChemistry of the retinoid (visual) cycleChemistry and biology of the initial steps in vision: the Friedenwald lecture.Genetic variations strongly influence phenotypic outcome in the mouse retina.Lutein, zeaxanthin, and meso-zeaxanthin: The basic and clinical science underlying carotenoid-based nutritional interventions against ocular diseaseRegulation of photoreceptor gene expression by the retinal homeobox (Rx) gene product.Exaggerated eye growth in IRBP-deficient mice in early developmentProteomic analysis of human vitreous humor.Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.The retinal pigment epithelium in health and diseaseCone outer segment extracellular matrix as binding domain for interphotoreceptor retinoid-binding protein.Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosaThiol-dependent antioxidant activity of interphotoreceptor retinoid-binding protein.Diagnostic challenges in retinitis pigmentosa: genotypic multiplicity and phenotypic variability.Genes and mutations causing retinitis pigmentosa.Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy.Receptor interacting protein kinase-mediated necrosis contributes to cone and rod photoreceptor degeneration in the retina lacking interphotoreceptor retinoid-binding proteinA novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese familyInterphotoreceptor retinoid-binding protein protects retinoids from photodegradationDevelopment and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.Necrotic enlargement of cone photoreceptor cells and the release of high-mobility group box-1 in retinitis pigmentosaStructure of zebrafish IRBP reveals fatty acid bindingInterphotoreceptor Retinoid-Binding Protein Mitigates Cellular Oxidative Stress and Mitochondrial Dysfunction Induced by All-trans-Retinal.Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesFold conservation and proteolysis in zebrafish IRBP structure: Clues to possible enzymatic function?In vitro transdifferentiation of human peripheral blood mononuclear cells to photoreceptor-like cells.Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.IRBP deficiency permits precocious ocular development and myopia.Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.Retinoids and Retinal Diseases.Graft versus self (GvS) against T-cell autoantigens is a mechanism of graft-host interactionEffects of Ranibizumab and Aflibercept on Human Müller Cells and Photoreceptors under Stress Conditions.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Normal cone function requires the interphotoreceptor retinoid binding protein.Retinol-binding site in interphotoreceptor retinoid-binding protein (IRBP): a novel hydrophobic cavity.Characterization of Vitreous and Aqueous Proteome in Humans With Proliferative Diabetic Retinopathy and Its Clinical Correlation.Interphotoreceptor retinoid binding protein; myths and mysteries.Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations.
P2860
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P2860
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.
description
2008 nî lūn-bûn
@nan
2008 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
A homozygous missense mutation ...... ecessive retinitis pigmentosa.
@ast
A homozygous missense mutation ...... ecessive retinitis pigmentosa.
@en
type
label
A homozygous missense mutation ...... ecessive retinitis pigmentosa.
@ast
A homozygous missense mutation ...... ecessive retinitis pigmentosa.
@en
prefLabel
A homozygous missense mutation ...... ecessive retinitis pigmentosa.
@ast
A homozygous missense mutation ...... ecessive retinitis pigmentosa.
@en
P2093
P2860
P356
P1476
A homozygous missense mutation ...... ecessive retinitis pigmentosa.
@en
P2093
Anneke I den Hollander
Carmela Ziviello
Debashis Ghosh
Eliot L Berson
Federico Gonzalez-Fernandez
Sandro Banfi
Terri L McGee
Thaddeus P Dryja
P2860
P304
P356
10.1167/IOVS.08-2497
P407
P577
2008-12-13T00:00:00Z