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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 |
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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 |
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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 |
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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 |
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rs80338902
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Caucasian frequent mutations p.C759F in arRP and p.E767fs in USH2 were not found.
|
25078356 |
2014 |
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rs80338902
|
|
|
0.750 |
GeneticVariation |
BEFREE |
A patient with RP without hearing loss caused by the homozygous mutation Cys759Phe in the USH2A gene on chromosome 1q was found to be the daughter of a noncarrier mother and a father who was heterozygous for this change.
|
12427073 |
2002 |
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rs80338902
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Here, we report Cys759Phe, a novel missense mutation in this gene that changes an amino-acid residue within the fifth laminin-epidermal growth factor-like domain of the USH2A gene and that is associated with recessive RP without hearing loss.
|
10775529 |
2000 |
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rs80338902
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Furthermore, the C759F mutation in the USH2A gene has been described in 4.5% of patients with nonsyndromic recessive RP.
|
14970843 |
2004 |
|
rs80338902
|
|
|
0.750 |
GeneticVariation |
BEFREE |
These findings, together with a review of the literature, support the hypothesis that homozygous p.C759F mutations are not pathogenic and led us to exclude the implication of p.C759F in the RP of family S23.
|
25823529 |
2015 |
|
rs147394623
|
|
|
0.740 |
GeneticVariation |
BEFREE |
DHDDS is of biomedical importance, as a non-conservative mutation (K42E) in the enzyme results in retinitis pigmentosa, ultimately leading to blindness.
|
28809830 |
2017 |
|
rs147394623
|
|
|
0.740 |
GeneticVariation |
BEFREE |
We observed a characteristic shortening of plasma and urinary dolichols in retinitis pigmentosa (RP) patients carrying K42E and T206A mutations in the dehydrodolichol diphosphate synthase (DHDDS) gene, using liquid chromatography-mass spectrometry.
|
24078709 |
2013 |
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rs147394623
|
|
|
0.740 |
GeneticVariation |
BEFREE |
We screened 275 North American patients with recessive/isolate retinitis pigmentosa for two mutations: an Alu insertion in the MAK gene and the p.Lys42Glu missense in the DHDDS gene.
|
25255364 |
2015 |
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rs147394623
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Clinical manifestations of patients who are homozygous for the c.124A>G mutation were within the spectrum associated with arRP.
|
21295282 |
2011 |
|
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
|
|
|
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 |
|
rs121909398
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Dermal fibroblasts from an autosomal recessive retinitis pigmentosa (RP) patient, homozygous for the mutation c.769 C>T, p.Arg257Ter, in CERKL (Ceramide Kinase-Like) gene, and a healthy sibling were derived and reprogrammed by Sendai virus.
|
31082679 |
2019 |
|
rs121909398
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Furthermore, we propose that the cause for retinitis pigmentosa</span> in patients bearing the CERKL R257X</span> mutation might be the accumulation of a truncated CERKL protein in the nucleus.
|
15708351 |
2005 |
|
rs121909398
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Remarkably, CERKL (but not the RP R257X mutant) exerts a protective role in cells against oxidative stress, consistent with RP mutations impairing the normal protein function in photoreceptors and thus tilting the balance toward apoptosis.
|
19158957 |
2009 |
|
rs775557680
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We generated induced pluripotent stem cells (iPSCs) from an RP patient carrying a rhodopsin mutation (E181K).
|
24935155 |
2014 |