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 |
rs104893786
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs200946638
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
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 |
rs527236100
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs527236103
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104893769
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Photoactivation-induced instability of rhodopsin mutants T4K and T17M in rod outer segments underlies retinal degeneration in X. laevis transgenic models of retinitis pigmentosa.
|
25274813 |
2014 |
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 |
rs104893769
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Many vertebrate models of retinal degeneration have been created through expression of RP-linked rhodopsins in photoreceptors including, but not limited to, VPP/GHL mice, P23H Rhodopsin frogs, P23H rhodopsin rats, S334ter rhodopsin rats, C185R rhodopsin mice, T17M rhodopsin mice, and P23H rhodopsin mice.
|
24664747 |
2014 |
rs104893769
|
|
|
0.750 |
GeneticVariation |
BEFREE |
These findings show novel insight into the properties of T17M rhodopsin and highlight the role of ER stress in T17M‑associated RP.
|
24573320 |
2014 |
rs29001566
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The results present the possibility that CME in RP patients may be associated with a specific genotype such as the p.P347L in RHO.
|
22217031 |
2012 |
rs29001566
|
|
G |
0.740 |
GeneticVariation |
CLINVAR |
|
|
|
rs29001566
|
|
T |
0.740 |
GeneticVariation |
CLINVAR |
Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
|
2215617 |
1990 |
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 |
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 |
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 |
rs104893775
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Specifically, both the R135L and R135W mutations (cytoplasmic end of H3) result in diffuse, severe disease (class A), but R135W causes more severe and more rapidly progressive RP than R135L.
|
17014888 |
2006 |
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 |
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 |
rs775557680
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We generated induced pluripotent stem cells (iPSCs) from an RP patient carrying a rhodopsin mutation (E181K).
|
24935155 |
2014 |