Candidate Genetic Modifiers for RPGR Retinal Degeneration
نویسندگان
چکیده
منابع مشابه
Genetic modifiers of retinal degeneration in the rd3 mouse.
PURPOSE In previous studies of light-induced (LRD) and age-related (ageRD) retinal degeneration (RD) between the BALB/cByJ (BALB) and B6(Cg)-Tyr(c-2J)/J (B6a) albino mouse strains, RD-modifying quantitative trait loci (QTLs) were identified. After breeding BALB- and B6a-rd3/rd3 congenic strains and finding significant differences in RD, an F1 intercross to determine rd3 QTLs that influence this...
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The retina contains due families of phspbolipnsc C (P, 6. and u). a reccctor-activated ewYmC that PFeratcs two iolraceUuhv s%xmd n&cngcrs, diacylgly&ol md I ,$5-inositol rrispbospbale. We hnvc charactaizcd the cDNA and par&d gene sh-ucnue for human PLCB4, a p isofurm which shares uighcsr sequence homology with dx norpA PLC from Drosophila. A muwion in tie nor@ PU: leads m I retinal demmtioo m d...
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Purpose IFT81, a core component of the IFT-B complex, involved in the bidirectional transport of ciliary proteins, has been recently implicated in syndromic ciliopathies. However, none of the IFT-B core complex proteins have been associated with nonsyndromic retinal dystrophies. Given the importance of ciliary transport in photoreceptor function and structural maintenance, we sought to investig...
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PURPOSE To describe the genotype-phenotype correlation and serial observations in a five-generation Czech family with X-linked retinitis pigmentosa (XLRP) associated with severe visual impairment in women. METHODS Comprehensive ophthalmological examination including spectral domain optical coherence tomography (SD-OCT) was performed. Based on the pedigree structure and women being severely af...
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PURPOSE We investigated the retinal disease due to mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in human patients and in an Rpgr conditional knockout (cko) mouse model. METHODS XLRP patients with RPGR-ORF15 mutations (n = 35, ages at first visit 5-72 years) had clinical examinations, and rod and cone perimetry. Rpgr-cko mice, in which the proximal promoter and first exon...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2020
ISSN: 1552-5783
DOI: 10.1167/iovs.61.14.20