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RP1 encodes a member of the doublecortin family. Zusätzlich bieten wir Ihnen RP1 Antikörper (15) und viele weitere Produktgruppen zu diesem Protein an.
Three XLRP families (RP-001, RP-002, and RP-003) were reported in this study, and 2 different disease-causing mutations were detected. We found 3 genetic variants: a novel mutation c.1591G>T in exon 14 and a novel polymorphism c.1105C>T in exon 10, resulting in p.Glu531* and p.Arg369Cys of RPGR (zeige RPGR ELISA Kits) gene, respectively, and one already known mutation c.413A>G in exon 2, resulting in a p.Glu138Gly of RP2 gene.
seven out of 27 families, displaying mutations in the ABCA4 (zeige ABCA4 ELISA Kits), RP1 (zeige STK19 ELISA Kits), RP2 and USH2A (zeige USH2A ELISA Kits) genes, could be genetically or clinically reclassified. These results demonstrate the potential of our panel-based NGS strategy in RP diagnosis
The L66P mutation in the first doublecortin (zeige DCX ELISA Kits) domain of the Rp1 (zeige STK19 ELISA Kits) gene impairs Rp1 (zeige STK19 ELISA Kits) protein localization and function, leading to abnormalities in photoreceptor outer segment structure and progressive photoreceptor degeneration.
We suggest that arRP patients with high myopic refractive error should be preferentially analysed for RP1 (zeige STK19 ELISA Kits) mutations.
it reports that different regions of RP1 (zeige STK19 ELISA Kits) can also lead to arRCD.
Two novel heterozygous null mutations in RP1 (zeige STK19 ELISA Kits) co-segregate with the disease in autosomal recessive retinitis pigmentosa patients.
RP1 (zeige STK19 ELISA Kits) phosphorylation at Ser (zeige SIGLEC1 ELISA Kits)(236) by CK2 (zeige CSNK2A1 ELISA Kits) seems to play a significant role in cell adhesion and might initiate new insights in the CK2 (zeige CSNK2A1 ELISA Kits) and EB1 (zeige MAPRE2 ELISA Kits) family protein association.
Data found pathogenic DNA variants in the genes RP1 (zeige STK19 ELISA Kits), USH2A (zeige USH2A ELISA Kits), CNGB3 (zeige CNGB3 ELISA Kits), NMNAT1 (zeige NMNAT1 ELISA Kits), CHM (zeige CHM ELISA Kits), and ABCA4 (zeige ABCA4 ELISA Kits), responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia (zeige CHM ELISA Kits), or recessive Stargardt/cone-rod dystrophy cases.
The most severe missense mutation occurred in patients with p.D984G in RP1 (zeige STK19 ELISA Kits).
A novel homozygous retinitis pigmentosa nonsense mutation in exon 4 of the RP1 (zeige STK19 ELISA Kits) gene, c.1012C>T (p.R338*) was identified in the proband and her two affected sisters.
A frameshift mutation in the RP1 gene causes progressive blindness in cattle
The L66P mutation in the first doublecortin (zeige DCX ELISA Kits) domain of the Rp1 gene impairs Rp1 protein localization and function, leading to abnormalities in photoreceptor outer segment structure and progressive photoreceptor degeneration.
RP1 is required for the correct orientation and higher order stacking of outer segment discs.
RP1 is a photoreceptor-specific microtubule-associated protein (zeige SPAG5 ELISA Kits) that participates in controlling the length and stability of the photoreceptor axoneme.
The disruption of Rp1 changed gene expression in the c-Jun N-terminal kinase signaling cascades.
Rp1 and Rp1L1 (zeige RP1L1 ELISA Kits) play essential and synergistic roles in affecting photosensitivity and morphogenesis of rod photoreceptors. Our findings suggest that mutations in RP1L1 (zeige RP1L1 ELISA Kits) could underlie retinopathy or modify RP1 disease expression
This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Two transcript variants encoding distinct isoforms are resulted from alternative promoters and alternative splicing.
retinitis pigmentosa 1 (autosomal dominant)
, retinitis pigmentosa RP1 protein
, oxygen-regulated protein 1-like
, oxygen-regulated protein 1
, retinitis pigmentosa 1 protein
, retinitis pigmentosa RP1 protein homolog
, retinitis pigmentosa 1 homolog