Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1
about
The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesteraseDelGEF, an RCC1-related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafnessRPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosminSpectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosaThe role of RPGR in cilia formation and actin stabilityRP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosaMutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.Null RPGRIP1 alleles in patients with Leber congenital amaurosis.RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteinsInteraction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosaLimited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosisA retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two familiesRetinal dystrophies, genomic applications in diagnosis and prospects for therapyConcise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye DiseaseScrutinizing ciliopathies by unraveling ciliary interaction networksThe 1.7 A crystal structure of the regulator of chromosome condensation (RCC1) reveals a seven-bladed propellerARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targetingThe Role of RPGR and Its Interacting Proteins in CiliopathiesMultiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).HERC3 binding to and regulation by ubiquitinGenotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary compositionBiochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degenerationRetinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting ciliumOverexpression of RPGR leads to male infertility in mice due to defects in flagellar assemblyStructural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoformsRemapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene.RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosaThe complexities of ocular genetics.Mutations of RPGR in X-linked retinitis pigmentosa (RP3).Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells.Clinical characteristics and current therapies for inherited retinal degenerationsGene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR
P2860
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P2860
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1
description
1996 nî lūn-bûn
@nan
1996 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Positional cloning of the gene ...... ucleotide-exchange factor RCC1
@ast
Positional cloning of the gene ...... ucleotide-exchange factor RCC1
@en
Positional cloning of the gene ...... ucleotide-exchange factor RCC1
@nl
type
label
Positional cloning of the gene ...... ucleotide-exchange factor RCC1
@ast
Positional cloning of the gene ...... ucleotide-exchange factor RCC1
@en
Positional cloning of the gene ...... ucleotide-exchange factor RCC1
@nl
prefLabel
Positional cloning of the gene ...... ucleotide-exchange factor RCC1
@ast
Positional cloning of the gene ...... ucleotide-exchange factor RCC1
@en
Positional cloning of the gene ...... ucleotide-exchange factor RCC1
@nl
P2093
P3181
P356
P1476
Positional cloning of the gene ...... ucleotide-exchange factor RCC1
@en
P2093
A A Bergen
A J Pinckers
F P Cremers
G van Duijnhoven
H H Ropers
L M Bleeker-Wagemakers
R Reinhardt
P304
P3181
P356
10.1093/HMG/5.7.1035
P407
P577
1996-07-01T00:00:00Z