about
A role for prenylated rab acceptor 1 in vertebrate photoreceptor developmentThe leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulationNephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulinRPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosminCombining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisA common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesMolecular characterization of a novel human gene, SEC13R, related to the yeast secretory pathway gene SEC13, and mapping to a conserved linkage group on human chromosome 3p24-p25 and mouse chromosome 6Characterization and sequence analysis of the human homeobox-containing gene GBX2Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosaThe basic motif-leucine zipper transcription factor Nrl can positively regulate rhodopsin gene expressionTOPORS, implicated in retinal degeneration, is a cilia-centrosomal proteinQRX, a novel homeobox gene, modulates photoreceptor gene expressionThe bZIP transcription factor Nrl stimulates rhodopsin promoter activity in primary retinal cell culturesChromosomal localization and cDNA sequence of human ralB, a GTP binding proteinThe centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteinsProtein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosaRecessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone functionCP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary diseaseA comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosaGenetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degenerationMutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosaDefects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndromeMutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophyRetinoic acid regulates the expression of photoreceptor transcription factor NRLIn-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 mouseHuman SEC13Rp functions in yeast and is located on transport vesicles budding from the endoplasmic reticulumCFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degenerationA variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degenerationNext generation sequencing technology and genomewide data analysis: Perspectives for retinal researchMinireview: the role of nuclear receptors in photoreceptor differentiation and diseaseCEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic 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).Differential expression of novel Gs alpha signal transduction protein cDNA speciesA mutation in NRL is associated with autosomal dominant retinitis pigmentosaNeural retina-specific leucine zipper gene NRL (D14S46E) maps to human chromosome 14q11.1-q11.2Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptorsClinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genesFunctional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity
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