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RPGR encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. De plus, nous expédions RPGR Anticorps (41) et RPGR Kits (5) et beaucoup plus de produits pour cette protéine.
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this is the first report of a molecular genetic diagnosis of XLRP in a patient with Turner syndrome. The X-linked RP in this woman may not be related to Turner syndrome, but may be a manifestation of the lack of a normal paternal X chromosome with in tact but mutate d RPGR
A novel frame-shift mutation in exon ORF15 of RPGR gene attributes of this heterozygosity suggest that gain-of-function mechanism could give rise to pathologic myopia via a degenerative cell-cell remodeling of the retinal structures.
RPGR interacts with PDE6delta and INPP5E. PDE6delta binds selectively to the C-terminus of RPGR and that this interaction is critical for RPGR's localization to cilia. INPP5E associates with the N-terminus of RPGR and trafficking of INPP5E to cilia is dependent upon the ciliary localization of RPGR.
In induced pluripotent stem cells and mouse knockouts that RPGR mediates actin dynamics in photoreceptors via the actin-severing protein, gelsolin (Montrer GSN Protéines).
Together with a physical interaction between RPGR and the C-terminal domain of CEP290, our data suggest that RPGR and CEP290 genetically interact and highlight the involvement of hypomorphic alleles of genes as potential modifiers of heterogeneous retinal ciliopathies.
Studies indicate taht the majority of patients with X-linked RP have mutations in the retinitis pigmentosa GTPase regulator (RPGR) or retinitis pigmentosa 2 protein (RP2 (Montrer NUDT19 Protéines)) genes.
We also correlated the features observed in patients with those of three Rpgr-mutant (Rpgr-ko, Rd9 (Montrer PITPNM1 Protéines), and Rpgr-cko) mice. In patients, there was pronounced macular disease
Three mutations were identified in the ORF15 exon of RPGR. No RP2 (Montrer NUDT19 Protéines) mutations were found among the examined families. Mutation screening of RP patients is essential to understand the mechanism behind this disease and develop treatments
Profound visual loss occurred by the second decade of life with progression to near no light perception by age 60 in this kindred of X-linked RP associated with the RPGR genotype.
The regulator of chromosome condensation 1 (Montrer RCC1 Protéines)-like (Montrer RCBTB2 Protéines) domain of RPGR was conserved in vertebrates and invertebrates, but RPGR(ORF15) was unique to vertebrates.
The discordant effect of the loss of RPGR on rod-dominant or cone-only rodent retinas is shown.
study uncovers the pathogenic mechanism whereby absence of RPGR(ORF15) glutamylation leads to retinal pathology in patients with TTLL5 gene mutations and connects these two genes into a common disease pathway.
Given a frequent occurrence of RPGR mutations in severe photoreceptor degeneration due to ciliary disorders, our results provide insights into pathways resulting in altered mature cilia function in ciliopathies.
Data shsow that Rpgr ORF15 transcripts, but not protein, were detected in retinas from Rd9 (Montrer PITPNM1 Protéines)/Y male mice that exhibited retinal pathology.
Misexpression of Rpgr(ex1 (Montrer FRMD6 Protéines)-19) causes retinal degeneration that is considerably more severe than that caused by Rpgr knockout but photoreceptors tolerate overexpression of Rpgr(ORF15) without evidence of degeneration.
RPGR localizes to the podocytes in the glomerulus as well as to primary cilia in parietal epithelium and tubules
RPGR and RPGRIP (Montrer RPGRIP1 Protéines) isoforms are distributed and co-localized at restricted foci throughout the outer segments of human and bovine, but not mice rod photoreceptors.
This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined.
X-linked retinitis pigmentosa GTPase regulator
, retinitis pigmentosa GTPase regulator
, RPGR 1-19 isoform
, X-linked retinitis pigmentosa GTPase regulator-like
, retinitis pigmentosa 15
, retinitis pigmentosa 3 GTPase regulator
, retinitis pigmentosa GTP-ase regulator RPGR