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RP1 encodes a member of the doublecortin family.
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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 (show RPGR Antibodies) gene, respectively, and one already known mutation c.413A>G in exon 2, resulting in a p.Glu138Gly of RP2 (show NUDT19 Antibodies) gene.
seven out of 27 families, displaying mutations in the ABCA4 (show ABCA4 Antibodies), RP1 (show STK19 Antibodies), RP2 (show NUDT19 Antibodies) and USH2A (show USH2A Antibodies) 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 (show DCX Antibodies) domain of the Rp1 (show STK19 Antibodies) gene impairs Rp1 (show STK19 Antibodies) 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 (show STK19 Antibodies) mutations.
it reports that different regions of RP1 (show STK19 Antibodies) can also lead to arRCD.
Two novel heterozygous null mutations in RP1 (show STK19 Antibodies) co-segregate with the disease in autosomal recessive retinitis pigmentosa patients.
RP1 (show STK19 Antibodies) phosphorylation at Ser (show SIGLEC1 Antibodies)(236) by CK2 (show CSNK2A1 Antibodies) seems to play a significant role in cell adhesion and might initiate new insights in the CK2 (show CSNK2A1 Antibodies) and EB1 (show MAPRE2 Antibodies) family protein association.
Data found pathogenic DNA variants in the genes RP1 (show STK19 Antibodies), USH2A (show USH2A Antibodies), CNGB3 (show CNGB3 Antibodies), NMNAT1 (show NMNAT1 Antibodies), CHM (show CHM Antibodies), and ABCA4 (show ABCA4 Antibodies), responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia (show CHM Antibodies), or recessive Stargardt/cone-rod dystrophy cases.
The most severe missense mutation occurred in patients with p.D984G in RP1 (show STK19 Antibodies).
A novel homozygous retinitis pigmentosa nonsense mutation in exon 4 of the RP1 (show STK19 Antibodies) 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 (show DCX Antibodies) 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 (show SPAG5 Antibodies) 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 play essential and synergistic roles in affecting photosensitivity and morphogenesis of rod photoreceptors. Our findings suggest that mutations in RP1L1 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