X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15
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Cone rod dystrophiesX linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F geneX-linked cone dystrophy caused by mutation of the red and green cone opsinsRP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosaInteraction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.A 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 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 dystrophyRetinal dystrophies, genomic applications in diagnosis and prospects for therapyBiology 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).Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genesInteraction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degenerationExome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genesStructural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoformsPolymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGRClinical course of cone dystrophy caused by mutations in the RPGR geneAn atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene.A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese familyGene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neuronsDeep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanismsRPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative diseaseLoss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina.Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.Photoreceptor rescue by an abbreviated human RPGR gene in a murine model of X-linked retinitis pigmentosa.The retinal ciliopathies.Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration
P2860
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P2860
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
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scientific article published on 20 February 2002
@en
vedecký článok
@sk
vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
@cs
name
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15
@en
X-linked cone-rod dystrophy
@nl
type
label
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15
@en
X-linked cone-rod dystrophy
@nl
prefLabel
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15
@en
X-linked cone-rod dystrophy
@nl
P2093
P2860
P356
P1476
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15
@en
P2093
Amy L Radak
Brian W Rigatti
Corrine L Baic
Elias I Traboulsi
Gaiping Wen
Juliane Ramser
Michael B Gorin
Tammy S Mah
Tiina Alitalo
P2860
P304
P356
10.1086/339620
P407
P577
2002-02-20T00:00:00Z