Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa
about
The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesteraseMutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosaRetinal remodeling in human retinitis pigmentosaPARP1 gene knock-out increases resistance to retinal degeneration without affecting retinal function.Restoration of vision in the pde6β-deficient dog, a large animal model of rod-cone dystrophyReview: the history and role of naturally occurring mouse models with Pde6b mutationsMolecular cloning, expression, and characterization of a novel human serine/threonine protein phosphatase, PP7, that is homologous to Drosophila retinal degeneration C gene product (rdgC)Extended conformation of the proline-rich domain of human aryl hydrocarbon receptor-interacting protein-like 1: implications for retina disease.Retinal projections in mice with inherited retinal degeneration: implications for circadian photoentrainment.Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease.Spectral domain optical coherence tomography in mouse models of retinal degeneration.Dopamine receptor loss of function is not protective of rd1 rod photoreceptors in vivo.Detection of retinitis pigmentosa by differential interference contrast microscopyDifferential loss and preservation of glutamate receptor function in bipolar cells in the rd10 mouse model of retinitis pigmentosaA new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.The GAFa domain of phosphodiesterase-6 contains a rod outer segment localization signal.Gene therapy in the CNS.Infliximab reduces Zaprinast-induced retinal degeneration in cultures of porcine retina.Mechanisms of cell death in the inherited retinal degenerationsLong-term retinal function and structure rescue using capsid mutant AAV8 vector in the rd10 mouse, a model of recessive retinitis pigmentosa.Transcriptional activation of the human rod cGMP-phosphodiesterase beta-subunit gene is mediated by an upstream AP-1 element.Establishment of monocular-limited photoreceptor degeneration models in rabbits.shRNA knockdown of guanylate cyclase 2e or cyclic nucleotide gated channel alpha 1 increases photoreceptor survival in a cGMP phosphodiesterase mouse model of retinitis pigmentosaRegulatory sequences in the 3' untranslated region of the human cGMP-phosphodiesterase beta-subunit gene.Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia.Effect of Stimulus Waveform of Biphasic Current Pulse on Retinal Ganglion Cell Responses in Retinal Degeneration (rd1) miceFunction of the asparagine 74 residue of the inhibitory γ-subunit of retinal rod cGMP-phophodiesterase (PDE) in vivo.Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern IrelandA truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory.Effect of the ILE86TER mutation in the γ subunit of cGMP phosphodiesterase (PDE6) on rod photoreceptor signaling.Atypical retinal degeneration 3 in mice is caused by defective PDE6B pre-mRNA splicing.Variable phenotypic expressivity in inbred retinal degeneration mouse lines: A comparative study of C3H/HeOu and FVB/N rd1 miceIt's never too late to save a photoreceptor.Halting progressive neurodegeneration in advanced retinitis pigmentosaNormal retina releases a diffusible factor stimulating cone survival in the retinal degeneration mouse.Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa.NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.Gene-based approach to human gene-phenotype correlations
P2860
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P2860
Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa
description
1995 nî lūn-bûn
@nan
1995 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Mutation spectrum of the gene ...... recessive retinitis pigmentosa
@ast
Mutation spectrum of the gene ...... recessive retinitis pigmentosa
@en
Mutation spectrum of the gene ...... recessive retinitis pigmentosa
@nl
type
label
Mutation spectrum of the gene ...... recessive retinitis pigmentosa
@ast
Mutation spectrum of the gene ...... recessive retinitis pigmentosa
@en
Mutation spectrum of the gene ...... recessive retinitis pigmentosa
@nl
prefLabel
Mutation spectrum of the gene ...... recessive retinitis pigmentosa
@ast
Mutation spectrum of the gene ...... recessive retinitis pigmentosa
@en
Mutation spectrum of the gene ...... recessive retinitis pigmentosa
@nl
P2093
P2860
P356
P1476
Mutation spectrum of the gene ...... recessive retinitis pigmentosa
@en
P2093
E L Berson
M E McLaughlin
T L Ehrhart
P2860
P304
P356
10.1073/PNAS.92.8.3249
P407
P577
1995-04-11T00:00:00Z