Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
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The 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 proteinsA comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosaIn-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 dystrophyCaste- and development-associated gene expression in a lower termiteThe 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).Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domainsUpdate on the molecular genetics of retinitis pigmentosaInteraction 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 assemblyKnockdown of ttc26 disrupts ciliogenesis of the photoreceptor cells and the pronephros in zebrafishRpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoformsHomozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 familiesStructural 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 3Reappearance of the tapetal-like reflex after prolonged dark adaptation in a female carrier of RPGR ORF15 X-linked retinitis pigmentosa.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.Precision Medicine: Genetic Repair of Retinitis Pigmentosa in Patient-Derived Stem CellsA novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis.Alternative splicing and retinal degenerationRemapping 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 ORF15Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate.Rd9 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.Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease.Differential occurrence of mutations causative of eye diseases in the Chinese population.RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosaMutations of RPGR in X-linked retinitis pigmentosa (RP3).Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.
P2860
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P2860
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
2000年论文
@zh
2000年论文
@zh-cn
name
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
@en
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
@nl
type
label
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
@en
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
@nl
prefLabel
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
@en
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
@nl
P2093
P356
P1433
P1476
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
@en
P2093
A Ciccodicola
A F Wright
R Vervoort
P304
P356
10.1038/78182
P407
P577
2000-08-01T00:00:00Z
P5875
P6179
1017199483