Retinitis Pigmentosa
|
0.700 |
Biomarker
|
disease |
BEFREE |
Defective rhodopsin homeostasis is one of the major causes of retinal degeneration, including the disease Retinitis pigmentosa.
|
31263175 |
2020 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Retinitis pigmentosa (RP) is a degenerative retinal disease, often caused by mutations in the G-protein-coupled receptor rhodopsin.
|
31556794 |
2019 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Filtration of Short-Wavelength Light Provides Therapeutic Benefit in Retinitis Pigmentosa Caused by a Common Rhodopsin Mutation.
|
31247114 |
2019 |
Retinitis Pigmentosa
|
0.700 |
Biomarker
|
disease |
BEFREE |
Adult wild-type (WT) mice and mice carrying rhodopsin deficiency (Rho-/-), a frequently used mouse model of human retinitis pigmentosa, were selected for investigation.
|
31618423 |
2019 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
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 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
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 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Correction: Comparison of the molecular properties of retinitis pigmentosa P23H and N15S amino acid replacements in rhodopsin.
|
31697785 |
2019 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Comparison of the molecular properties of retinitis pigmentosa P23H and N15S amino acid replacements in rhodopsin.
|
31100078 |
2019 |
Retinitis Pigmentosa
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To evaluate the progression of retinitis pigmentosa (RP) due to mutations in rhodopsin (RHO) by measuring the short-wavelength autofluorescence (SW-AF) increased autofluorescence ring and ellipsoid zone (EZ)-line width.
|
30635721 |
2019 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This is particularly difficult for the visual pigment rhodopsin-a GPCR activated by light-for which hundreds of mutations have been linked to inherited degenerative retinal diseases such as retinitis pigmentosa.
|
30514708 |
2019 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The RHO gene should be given priority during mutation screening analysis for Chinese patients with sector RP.
|
30390055 |
2019 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In a separate set of experiments, we found that class I mutant rhodopsin, which causes NKAα downregulation, also causes shortening and loss of rod outer segments (OSs); the symptoms frequently observed in the early stages of human RP.
|
31061086 |
2019 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO gene.
|
31146251 |
2019 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The rhodopsin Pro347Leu transgenic rabbit (P347L Tg) is a model of RP, and it has been used to analyze the functional and morphological changes in the retina following the degeneration of the photoreceptors.
|
31029790 |
2019 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
25%-30% of RP cases are caused by inherited autosomal dominant (ad) mutations in the rhodopsin (Rho) protein of the retina, which impose a barrier for developing therapeutic treatments for this genetically heterogeneous disorder, as simple gene replacement is not sufficient to overcome dominant disease alleles.
|
29232624 |
2018 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating retinitis pigmentosa by intravitreal AAV9.PHP.B-based delivery.
|
29281027 |
2018 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The Retinitis Pigmentosa-Linked Mutations in Transmembrane Helix 5 of Rhodopsin Disrupt Cellular Trafficking Regardless of Oligomerization State.
|
30085663 |
2018 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
highroad Is a Carboxypetidase Induced by Retinoids to Clear Mutant Rhodopsin-1 in Drosophila Retinitis Pigmentosa Models.
|
29425495 |
2018 |
Retinitis Pigmentosa
|
0.700 |
Biomarker
|
disease |
BEFREE |
Previously, when tissue inhibitor of metalloproteinase 1 (TIMP1), a key extracellular matrix (ECM) regulator that binds to and inhibits activation of Matrix metallopeptidase 9 (MMP9) was intravitreal injected into eyes of a transgenic rhodopsin rat model of RP, S334ter-line3, we discovered cone outer segments are partially protected.
|
29742163 |
2018 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The binding of wild-type (WT) human arrestin-1 and several mutants with substitutions in position 147 (including C147F, which causes dominant retinitis pigmentosa in humans) to phosphorylated and unphosphorylated light-activated rhodopsin was determined.
|
29305604 |
2018 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To develop a universal gene therapy to overcome the genetic heterogeneity in retinitis pigmentosa (RP) resulting from mutations in rhodopsin (RHO).
|
29759820 |
2018 |
Retinitis Pigmentosa
|
0.700 |
Biomarker
|
disease |
BEFREE |
The understanding of the disease mechanisms associated with rhodopsin RP and the development of targeted therapies offer the potential of treatment for this currently untreatable neurodegeneration.
|
29042326 |
2018 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
<i>Casp7</i> knockout mice were crossed to two different RP mouse models with significantly different rod and cone death kinetics: the <i>rd1</i> mouse model, which carries a mutation in the <i>Pde6b</i> gene, and the rhodopsin knockout mouse model (<i>Rho-KO</i> or <i>Rho<sup>-/-</sup></i> ).
|
29296074 |
2017 |
Retinitis Pigmentosa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We also demonstrate that the retinitis pigmentosa-associated mutation G51A behaves differently in human rhodopsin compared to bovine rhodopsin and determine that the thermal decay rate of an ancestrally reconstructed mammalian rhodopsin displays an intermediate phenotype compared to the two extant pigments.
|
28369862 |
2017 |