A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa
about
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulinRPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosminA common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesThe role of RPGR in cilia formation and actin stabilityRP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosaRPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteinsIn-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouseLimited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosisIdentification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localizationA new genetic locus for X linked progressive cone-rod dystrophyThe Role of RPGR and Its Interacting Proteins in CiliopathiesBiology and therapy of inherited retinal degenerative disease: insights from mouse modelsMultiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary compositionLoss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in miceInteraction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degenerationAblation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degenerationStructural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoformsAnalysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.Quantitative 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 variantsAllelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.Interaction and localization of the retinitis pigmentosa protein RP2 and NSF in retinal photoreceptor cells.The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development.Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR geneRd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene.Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosaTranscriptional profile analysis of RPGRORF15 frameshift mutation identifies novel genes associated with retinal degeneration.Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells.Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGRInner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.Mistrafficking of prenylated proteins causes retinitis pigmentosa 2.An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene.Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.
P2860
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P2860
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa
description
2002 nî lūn-bûn
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2002 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2002年の論文
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年學術文章
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name
A comprehensive mutation analy ...... X-linked retinitis pigmentosa
@ast
A comprehensive mutation analy ...... X-linked retinitis pigmentosa
@en
A comprehensive mutation analy ...... X-linked retinitis pigmentosa
@nl
type
label
A comprehensive mutation analy ...... X-linked retinitis pigmentosa
@ast
A comprehensive mutation analy ...... X-linked retinitis pigmentosa
@en
A comprehensive mutation analy ...... X-linked retinitis pigmentosa
@nl
prefLabel
A comprehensive mutation analy ...... X-linked retinitis pigmentosa
@ast
A comprehensive mutation analy ...... X-linked retinitis pigmentosa
@en
A comprehensive mutation analy ...... X-linked retinitis pigmentosa
@nl
P2093
P2860
P50
P3181
P356
P1476
A comprehensive mutation analy ...... X-linked retinitis pigmentosa
@en
P2093
Alan F Wright
Alan J Mears
Bersabell Asaye
Beverly M Yashar
Ceren Acar
Debra K Breuer
Dennis R Hoffman
Elena Filippova
Gerald A Fishman
John R Heckenlively
P2860
P304
P3181
P356
10.1086/340848
P407
P577
2002-06-01T00:00:00Z