|
rs104893768
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Correction: Comparison of the molecular properties of retinitis pigmentosa P23H and N15S amino acid replacements in rhodopsin.
|
31697785 |
2019 |
|
rs104893775
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Heterozygous <i>RHO</i> p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors.
|
31239368 |
2019 |
|
rs29001566
|
|
|
0.740 |
GeneticVariation |
BEFREE |
To determine the relationship between the amplitudes of the electrically evoked potentials (EEPs) and the number of optic nerve axons at a late stage of retinal degeneration in rhodopsin P347L transgenic (Tg) rabbits, a model of retinitis pigmentosa.
|
31206141 |
2019 |
|
rs104893768
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Comparison of the molecular properties of retinitis pigmentosa P23H and N15S amino acid replacements in rhodopsin.
|
31100078 |
2019 |
|
rs29001566
|
|
|
0.740 |
GeneticVariation |
BEFREE |
However, assessments of the retinal changes in P</span>347L Tg rabbits older than 1-year have not been reported even though the data are important for research on developing new therapies to restore vision at the end stages of RP.
|
31029790 |
2019 |
|
rs200946638
|
|
|
0.710 |
GeneticVariation |
BEFREE |
For example, three retinitis pigmentosa pedigrees were solved by identifying VUS which showed low expression levels (p.G18D, p.G101V, and p.P180T).
|
30977563 |
2019 |
|
rs104893769
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
rs104893775
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
rs775557680
|
|
A |
0.730 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
rs104893773
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
rs104893776
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
rs104893793
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
rs104893775
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Here we report simultaneous occurrence of RP associated with bilateral nanophthalmos and acute angle-closure glaucoma in patient with a new mutation in rhodopsin (R135W).
|
30635925 |
2019 |
|
rs567288669
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Together, our results suggest that the RP pathology associated with the expression of the V209M and F220C mutants could arise from defects in folding and cellular trafficking rather than the disruption of dimerization, as has been previously proposed.
|
30085663 |
2018 |
|
rs766161322
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Together, our results suggest that the RP pathology associated with the expression of the V209M and F220C mutants could arise from defects in folding and cellular trafficking rather than the disruption of dimerization, as has been previously proposed.
|
30085663 |
2018 |
|
rs104893768
|
|
|
0.100 |
GeneticVariation |
BEFREE |
P23H rats were crossed with pigmented Long Evans rats to produce offspring exhibiting the clinical conditions of RP.
|
30006118 |
2018 |
|
rs104893768
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating retinitis pigmentosa by intravitreal AAV9.PHP.B-based delivery.
|
29281027 |
2018 |
|
rs104893768
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Three lines were generated with a proline to histidine substitution at codon 23 (P23H), the most common autosomal dominant form of retinitis pigmentosa in the United States.
|
29122605 |
2018 |
|
rs104893768
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The P23H mutation, the most frequent single cause of RP in the USA, causes rhodopsin misfolding and induction of the unfolded protein response (UPR), an adaptive ER stress response and signalling network that aims to enhance the folding and degradation of misfolded proteins to restore proteostasis.
|
29036441 |
2017 |
|
rs104893769
|
|
|
0.750 |
GeneticVariation |
BEFREE |
However, the pathogenic role of T17M rhodopsin in RP is not completely understood.
|
28569420 |
2017 |
|
rs104893769
|
|
|
0.750 |
GeneticVariation |
BEFREE |
We investigated the effects of VPA on <i>Xenopus laevis</i> models of RP expressing human P23H, T17M, T4K, and Q344ter rhodopsins, which are associated with RP in humans.
|
28490005 |
2017 |
|
rs104893768
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We investigated the effects of VPA on <i>Xenopus laevis</i> models of RP expressing human P23H, T17M, T4K, and Q344ter rhodopsins, which are associated with RP in humans.
|
28490005 |
2017 |
|
rs149079952
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also demonstrate that the retinitis pigmentosa-associated mutation G51A behaves differently in human rhodopsin compared to bovine rhodopsin and determine that the thermal decay rate of an ancestrally reconstructed mammalian rhodopsin displays an intermediate phenotype compared to the two extant pigments.
|
28369862 |
2017 |
|
rs104893768
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In animal models of P23H RP, metformin treatment successfully enhanced P23H traffic to the rod outer segment, but this led to reduced photoreceptor function and increased photoreceptor cell death.
|
28065882 |
2017 |
|
rs29001566
|
|
|
0.740 |
GeneticVariation |
BEFREE |
In this study, we found that KUS121, one of the VCP modulators, effectively protects photoreceptors both morphologically and functionally, in two animal models of retinal degeneration, rd12 mice and RP rabbits with a rhodopsin (Pro347Leu) mutation.
|
27503804 |
2016 |