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rs104893768
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0.100 |
GeneticVariation |
BEFREE |
The P23H variant of rhodopsin results in misfolding of the protein, and is a common cause of the blinding disease autosomal dominant retinitis pigmentosa (adRP).
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31320609 |
2019 |
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rs104893768
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The rhodopsin mutation P23H is responsible for a significant portion of autosomal-dominant retinitis pigmentosa, a disorder characterized by rod photoreceptor death.
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30840038 |
2019 |
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rs104893768
|
|
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0.100 |
GeneticVariation |
BEFREE |
Mutations in the gene encoding RHO (rhodopsin) are a common cause of autosomal dominant retinitis pigmentosa (adRP), with the Pro23His variant of RHO resulting in a misfolded protein that activates endoplasmic reticulum stress and the unfolded protein response.
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29940785 |
2018 |
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rs104893768
|
|
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0.100 |
GeneticVariation |
BEFREE |
Genomic form of rhodopsin DNA nanoparticles rescued autosomal dominant Retinitis pigmentosa in the P23H knock-in mouse model.
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29232624 |
2018 |
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rs104893768
|
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0.100 |
GeneticVariation |
BEFREE |
Förster resonance energy transfer (FRET) and Fourier transform infrared (FTIR) microspectroscopy were utilized to probe within cells the structures formed by G188R and P23H opsins, which are misfolding mutants that cause autosomal dominant retinitis pigmentosa.
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26358292 |
2015 |
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rs104893768
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0.100 |
GeneticVariation |
BEFREE |
Histology of the ADRP eyes showed retinas with little evidence of stratified nuclear layers in the periphery and a prominent inner nuclear layer present in the perifoveal region in the p.P23H and p.P347T eyes, while it was severely atrophic in the p.P347L eye.
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26202387 |
2015 |
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rs104893768
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0.100 |
GeneticVariation |
BEFREE |
In a recently developed transgenic P23H (TgP23H) rhodopsin swine model of RP, we tracked changes in pre- and early postnatal retinal morphology, as well as early postnatal retinal function.
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24618321 |
2014 |
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rs104893768
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0.100 |
GeneticVariation |
BEFREE |
Expression of the human RHO P23H transgene in the retina creates a miniature swine model with an inheritance pattern and retinal function that mimics adRP.
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22247487 |
2012 |
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rs104893768
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0.100 |
GeneticVariation |
BEFREE |
The Unfolded Protein Response (UPR) is implicated in the pathophysiology of several retinal disorders including ADRP in P23H Rho rats.
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22432009 |
2012 |
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rs104893768
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0.100 |
GeneticVariation |
BEFREE |
Probing mechanisms of photoreceptor degeneration in a new mouse model of the common form of autosomal dominant retinitis pigmentosa due to P23H opsin mutations.
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21224384 |
2011 |
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rs104893768
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0.100 |
GeneticVariation |
BEFREE |
The most common Rhodopsin (Rh) mutation associated with autosomal dominant retinitis pigmentosa (ADRP) in North America is the substitution of proline 23 by histidine (Rh(P23H)).
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20865169 |
2010 |
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rs104893768
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0.100 |
GeneticVariation |
BEFREE |
We have now overexpressed BiP to test the hypothesis that this chaperone promotes the trafficking of P23H rhodopsin to the cell membrane, reprograms the UPR favoring the survival of photoreceptors, blocks apoptosis, and, ultimately, preserves vision in ADRP rats.
|
20231467 |
2010 |
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rs104893768
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0.100 |
GeneticVariation |
BEFREE |
Patients with RHO-ADRP (n = 17, ages 6-73 years), representing class A (R135W and P347L) and class B (P23H, T58R, and G106R) functional phenotypes, were studied with optical coherence tomography (OCT), and colocalized visual thresholds were determined by dark- and light-adapted chromatic perimetry.
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18385078 |
2008 |
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rs104893768
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0.100 |
GeneticVariation |
BEFREE |
Retinoids assist the cellular folding of the autosomal dominant retinitis pigmentosa opsin mutant P23H.
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14769795 |
2004 |
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rs104893768
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0.100 |
GeneticVariation |
BEFREE |
To evaluate the retina in autopsy eyes from patients over age 60 with autosomal dominant retinitis pigmentosa and a mutation in the RP13 gene (designated as PRPC8, Arg2310Gly), rhodopsin Pro23His, rhodopsin Cys110Arg, or rhodopsin Glu181Lys.
|
15126168 |
2004 |
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rs104893768
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0.100 |
GeneticVariation |
BEFREE |
To compare histologic findings in an autopsy eye of an 84-year-old man with advanced retinitis pigmentosa and rhodopsin, Glu181Lys, with two cases of autosomal dominant retinitis pigmentosa (one with rhodopsin, Pro23His, and one with rhodopsin, Cys110Arg) and with a normal control, all of comparable age.
|
11124299 |
2000 |
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rs104893768
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0.100 |
GeneticVariation |
BEFREE |
Electroretinograms were recorded from three patients with autosomal dominant retinitis pigmentosa and the pro-23-his rhodopsin mutation, two patients with rod monochromatism, and five normal subjects.
|
7601641 |
1995 |
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rs104893768
|
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0.100 |
GeneticVariation |
BEFREE |
The P23H mutation is the most prevalent mutation in human ADRP patients.
|
8516292 |
1993 |
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rs104893768
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0.100 |
GeneticVariation |
BEFREE |
Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation.
|
1550184 |
1992 |
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rs104893768
|
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0.100 |
GeneticVariation |
BEFREE |
Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa.
|
1418997 |
1992 |
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rs104893768
|
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0.100 |
GeneticVariation |
BEFREE |
Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His).
|
1987956 |
1991 |
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rs104893768
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0.100 |
GeneticVariation |
BEFREE |
The authors present a family with Pro-23-His rhodopsin-associated RP in which all six affected individuals had a regional distribution of the retinal degeneration in which the inferior hemisphere of the retina was most severely affected.
|
1775314 |
1991 |
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rs29001566
|
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|
0.040 |
GeneticVariation |
BEFREE |
The most prevalent p.Pro347Leu mutation, responsible for 4.5% (9/200) of all mutated adRP families, was associated with a phenotype of early onset and severe course diffuse RP.
|
25408095 |
2015 |
|
rs29001566
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Patients with RHO-ADRP (n = 17, ages 6-73 years), representing class A (R135W and P347L) and class B (P23H, T58R, and G106R) functional phenotypes, were studied with optical coherence tomography (OCT), and colocalized visual thresholds were determined by dark- and light-adapted chromatic perimetry.
|
18385078 |
2008 |
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rs29001566
|
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|
0.040 |
GeneticVariation |
BEFREE |
Two RHO mutations, Pro347Leu and Pro327 (1-bp del), were identified each in one family, thus the frequency of RHO mutations among ADRP families in this study is less than 14% (2/50=4%, 95% confidence interval: 1-14%), lower than that in Europe and North America, which may reflect an ethnic difference between Chinese and Caucasian populations.
|
16229860 |
2006 |