|
rs104893769
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
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 |
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 |
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 |
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 |
|
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
|
|
T |
0.740 |
GeneticVariation |
CLINVAR |
Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
|
2215617 |
1990 |
|
rs29001566
|
|
G |
0.740 |
GeneticVariation |
CLINVAR |
|
|
|
|
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
|
|
T |
0.730 |
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 |
|
rs775557680
|
|
A |
0.730 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
rs775557680
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We generated induced pluripotent stem cells (iPSCs) from an RP patient carrying a rhodopsin mutation (E181K).
|
24935155 |
2014 |
|
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 |
|
rs775557680
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Histologic study of retinitis pigmentosa due to a mutation in the RP13 gene (PRPC8): comparison with rhodopsin Pro23His, Cys110Arg, and Glu181Lys.
|
15126168 |
2004 |
|
rs775557680
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Retinal histopathology of an autopsy eye with advanced retinitis pigmentosa in a family with rhodopsin Glu181Lys.
|
11124299 |
2000 |
|
rs775557680
|
|
A |
0.730 |
GeneticVariation |
CLINVAR |
Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.
|
1833777 |
1991 |
|
rs104893773
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
rs104893779
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Thermal stability of rhodopsin and progression of retinitis pigmentosa: comparison of S186W and D190N rhodopsin mutants.
|
23625926 |
2013 |
|
rs104893779
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Patients with RHO (D190N) autosomal dominant retinitis pigmentosa (adRP) can show classic signs of RP on fundus examination and may be able to maintain good central visual acuity into adulthood.
|
19085385 |
2008 |
|
rs104893773
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The Gly106Arg mutation of the rhodopsin gene has been found in Japanese patients with sectorial retinitis pigmentosa.
|
11094174 |
2001 |