|
rs1003869920
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.
|
21593743 |
2011 |
|
rs1003869920
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
rs1035024403
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs104893768
|
|
|
0.100 |
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 |
|
rs104893768
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Comparison of the molecular properties of retinitis pigmentosa P23H and N15S amino acid replacements in rhodopsin.
|
31100078 |
2019 |
|
rs104893768
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We show that expression of P23H, but not wild-type rhodopsin, results in a generalized impairment of the ubiquitin proteasome system, suggesting a mechanism for photoreceptor degeneration that links RP to a broad class of neurodegenerative diseases.
|
12091393 |
2002 |
|
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 |
Patients with retinitis pigmentosa and the pro-23-his rhodopsin mutation had a decrease in the gain of activation.
|
7601641 |
1995 |
|
rs104893768
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The first autosomal dominant mutation identified to cause retinitis pigmentosa in the North American population was the substitution of proline to histidine at position 23 of the rhodopsin gene (P23H RHO).
|
24664733 |
2014 |
|
rs104893768
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We inserted into the germline of mice either a mutant or wild-type allele from a patient with retinitis pigmentosa and a missense mutation (P23H) in the rhodopsin gene.
|
1418997 |
1992 |
|
rs104893768
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In a cell model of P23H rod opsin RP, arimoclomol reduced P23H rod opsin aggregation and improved viability of mutant rhodopsin-expressing cells.
|
24853414 |
2014 |
|
rs104893768
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Dark rearing rescues P23H rhodopsin-induced retinal degeneration in a transgenic Xenopus laevis model of retinitis pigmentosa: a chromophore-dependent mechanism characterized by production of N-terminally truncated mutant rhodopsin.
|
17715341 |
2007 |
|
rs104893768
|
|
|
0.100 |
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 |
|
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 |
Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His.
|
12140048 |
2002 |
|
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 |
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 |
|
rs104893768
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Retinobenzaldehydes as proper-trafficking inducers of folding-defective P23H rhodopsin mutant responsible for retinitis pigmentosa.
|
20805032 |
2010 |
|
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 |
|
rs104893768
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We found no evidence for an association between telomere length and the severity of RP as monitored by the cone ERG in patients with the Pro23His rhodopsin mutation.
|
19325938 |
2009 |
|
rs104893768
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A Pro23His mutation alters prenatal rod photoreceptor morphology in a transgenic swine model of retinitis pigmentosa.
|
24618321 |
2014 |
|
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 |
|
rs104893768
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Correction: Comparison of the molecular properties of retinitis pigmentosa P23H and N15S amino acid replacements in rhodopsin.
|
31697785 |
2019 |
|
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
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |