RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa
about
Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degenerationQuantitative Analysis of Retinal Structure Using Spectral-Domain Optical Coherence Tomography in RPGR-Associated RetinopathyFunctional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variantsDiagnostic challenges in retinitis pigmentosa: genotypic multiplicity and phenotypic variability.Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.Mistrafficking of prenylated proteins causes retinitis pigmentosa 2.Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy.Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative diseaseNovel TRPM1 mutations in two Chinese families with early-onset high myopia, with or without complete congenital stationary night blindness.Concise Review: Making Stem Cells Retinal: Methods for Deriving Retinal Pigment Epithelium and Implications for Patients With Ocular Disease.Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.The guanine nucleotide exchange factor Arf-like protein 13b is essential for assembly of the mouse photoreceptor transition zone and outer segment.Pattern dystrophy in a female carrier of RP2 mutation.Characterization of a novel RP2-OSTF1 interaction and its implication for actin remodeling.Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish.Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.
P2860
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P2860
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
2010年论文
@zh
2010年论文
@zh-cn
name
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa
@ast
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa
@en
type
label
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa
@ast
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa
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prefLabel
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa
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RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa
@en
P2093
P2860
P50
P1433
P1476
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa
@en
P2093
Athanasios J Karoukis
John R Heckenlively
Kari E H Branham
Thiran Jayasundera
William R Rhoades
P2860
P304
P356
10.1001/ARCHOPHTHALMOL.2010.122
P407
P577
2010-07-01T00:00:00Z