A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
about
The dynamic cilium in human diseasesThe 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 deafnessIdentification and subcellular localization of the RP1 protein in human and mouse photoreceptorsRPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosminX linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F geneSpectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosaThe retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophyThe interplay between RPGR, PDEδ and Arl2/3 regulate the ciliary targeting of farnesylated cargoThe role of RPGR in cilia formation and actin stabilityRP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosaNull 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.On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic interventionEvidence 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 pigmentosaMutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosaMutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa.Limited 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 retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)A new genetic locus for X linked progressive cone-rod dystrophyAnalysis 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 familiesGenetic analysis of the cytoplasmic dynein subunit families.Retinal dystrophies, genomic applications in diagnosis and prospects for therapyConcise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye DiseaseThe role of primary cilia in the development and disease of the retinaScrutinizing ciliopathies by unraveling ciliary interaction networksBasolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse modelThe 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).Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycleHERC3 binding to and regulation by ubiquitinGenotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains
P2860
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P2860
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
description
1996 nî lūn-bûn
@nan
1996 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի մայիսին 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
A gene (RPGR) with homology to ...... ked retinitis pigmentosa (RP3)
@ast
A gene (RPGR) with homology to ...... ked retinitis pigmentosa (RP3)
@en
A gene (RPGR) with homology to ...... ked retinitis pigmentosa (RP3)
@nl
type
label
A gene (RPGR) with homology to ...... ked retinitis pigmentosa (RP3)
@ast
A gene (RPGR) with homology to ...... ked retinitis pigmentosa (RP3)
@en
A gene (RPGR) with homology to ...... ked retinitis pigmentosa (RP3)
@nl
prefLabel
A gene (RPGR) with homology to ...... ked retinitis pigmentosa (RP3)
@ast
A gene (RPGR) with homology to ...... ked retinitis pigmentosa (RP3)
@en
A gene (RPGR) with homology to ...... ked retinitis pigmentosa (RP3)
@nl
P2093
P50
P3181
P356
P1433
P1476
A gene (RPGR) with homology to ...... ked retinitis pigmentosa (RP3)
@en
P2093
A Ciccodicola
C Migliaccio
P2860
P2888
P3181
P356
10.1038/NG0596-35
P407
P577
1996-05-01T00:00:00Z