about
The Retinome - defining a reference transcriptome of the adult mammalian retina/retinal pigment epitheliumThe leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulationThe role of RPGR in cilia formation and actin stabilityNormal light response, photoreceptor integrity, and rhodopsin dephosphorylation in mice lacking both protein phosphatases with EF hands (PPEF-1 and PPEF-2)A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degenerationRetinoic acid regulates the expression of photoreceptor transcription factor NRLFunctional redundancy of cryptochromes and classical photoreceptors for nonvisual ocular photoreception in miceForward genetic analysis of visual behavior in zebrafish.Pharmacological and rAAV gene therapy rescue of visual functions in a blind mouse model of Leber congenital amaurosis.Retinosomes: new insights into intracellular managing of hydrophobic substances in lipid bodiesNoninvasive two-photon imaging reveals retinyl ester storage structures in the eyeGene therapy of inherited retinal degenerations: prospects and challengesThe Role of RPGR and Its Interacting Proteins in CiliopathiesFunctional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunitThe minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding proteinChemistry of the retinoid (visual) cycleTransducin gamma-subunit sets expression levels of alpha- and beta-subunits and is crucial for rod viabilitySafety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)Mutations in REEP6 Cause Autosomal-Recessive Retinitis PigmentosaConstitutive activation of CCR5 and CCR2 induced by conformational changes in the conserved TXP motif in transmembrane helix 2.Sterile alpha motif containing 7 (samd7) is a novel crx-regulated transcriptional repressor in the retina.Expressed sequence tag analysis of guinea pig (Cavia porcellus) eye tissues for NEIBank.Structure of cone photoreceptors.Withaferin A targets intermediate filaments glial fibrillary acidic protein and vimentin in a model of retinal gliosisRetinoids for treatment of retinal diseasesNaturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosaAchromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels.Pathways to photoreceptor cell death in inherited retinal degenerations.Lecithin-retinol acyltransferase is essential for accumulation of all-trans-retinyl esters in the eye and in the liver.A naturally occurring mutation of the opsin gene (T4R) in dogs affects glycosylation and stability of the G protein-coupled receptor.Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosaEvaluation of the role of the retinal G protein-coupled receptor (RGR) in the vertebrate retina in vivo.G protein-coupled receptor rhodopsin: a prospectus.Stereoisomeric specificity of the retinoid cycle in the vertebrate retina.Probing mechanisms of photoreceptor degeneration in a new mouse model of the common form of autosomal dominant retinitis pigmentosa due to P23H opsin mutations.Gene therapy for retinal and choroidal diseases.G protein-coupled receptor rhodopsin.Sequence analyses of G-protein-coupled receptors: similarities to rhodopsin.Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.Systemic administration of erythropoietin inhibits retinopathy in RCS rats.
P2860
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P2860
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Molecular genetics of human retinal disease.
@ast
Molecular genetics of human retinal disease.
@en
type
label
Molecular genetics of human retinal disease.
@ast
Molecular genetics of human retinal disease.
@en
prefLabel
Molecular genetics of human retinal disease.
@ast
Molecular genetics of human retinal disease.
@en
P2093
P1476
Molecular genetics of human retinal disease.
@en
P2093
P304
P356
10.1146/ANNUREV.GENET.33.1.89
P577
1999-01-01T00:00:00Z