Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients.
|
19273793 |
2009 |
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The retinal structure of a young ESCS patient with homozygous R311Q mutation in the NR2E3 gene is similar to that seen in the rd7 mice.
|
19429590 |
2009 |
Enhanced S-Cone Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.
|
19898638 |
2009 |
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.
|
18294254 |
2008 |
Enhanced S-Cone Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
A novel mutation in Prph2, a gene regulated by Nr2e3, causes retinal degeneration and outer-segment defects similar to Nr2e3 ( rd7/rd7 ) retinas.
|
18763016 |
2008 |
Enhanced S-Cone Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.
|
18294254 |
2008 |
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Other mutations of NR2E3 have previously been shown to cause autosomal recessive enhanced S-cone syndrome, a specific retinal phenotype.
|
17564971 |
2007 |
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results showed that NR2E3 mutations localized in LBD induce ESCS disease without affecting inhibitory activity as recorded in vitro.
|
17438525 |
2007 |
Enhanced S-Cone Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome.
|
17438525 |
2007 |
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene.
|
17601449 |
2007 |
Enhanced S-Cone Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes.
|
15689355 |
2005 |
Enhanced S-Cone Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
This mutant carries a spontaneous deletion in the mouse ortholog of NR2E3, an orphan nuclear receptor transcription factor mutated in ESCS.
|
16110338 |
2005 |
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our study suggests that the expression of these 2 mutants of NR2E3, acting as a dimer, is correlated with a mild form of ESCS in that full foveal function and retinal laminar structure are maintained, and certain rod responses are present.
|
16225923 |
2005 |
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Our study suggests that the expression of these 2 mutants of NR2E3, acting as a dimer, is correlated with a mild form of ESCS in that full foveal function and retinal laminar structure are maintained, and certain rod responses are present.
|
16225923 |
2005 |
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The subject (Patient A) with no detected NR2E3 mutation had features not usually associated with ESCS, in particular moderate rod photoreceptor function in peripheral retina and an abnormally thick retinal nerve fibre layer.
|
15459973 |
2004 |
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The subject (Patient A) with no detected NR2E3 mutation had features not usually associated with ESCS, in particular moderate rod photoreceptor function in peripheral retina and an abnormally thick retinal nerve fibre layer.
|
15459973 |
2004 |
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The subject (Patient A) with no detected NR2E3 mutation had features not usually associated with ESCS, in particular moderate rod photoreceptor function in peripheral retina and an abnormally thick retinal nerve fibre layer.
|
15459973 |
2004 |
Enhanced S-Cone Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The subject (Patient A) with no detected NR2E3 mutation had features not usually associated with ESCS, in particular moderate rod photoreceptor function in peripheral retina and an abnormally thick retinal nerve fibre layer.
|
15459973 |
2004 |
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The patients with ESCS and GFS and 9 of the 20 unrelated patients with CPRD had mutations in the NR2E3 gene.
|
12963616 |
2003 |
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.
|
12963616 |
2003 |
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To determine the relationship between cone deactivation kinetics in patients with the enhanced S cone syndrome (ESCS) caused by mutations in NR2E3 and the immunoreactivity to G-protein-coupled receptor kinase 1 (GRK1) and GRK7.
|
12601058 |
2003 |
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The patients with ESCS and GFS and 9 of the 20 unrelated patients with CPRD had mutations in the NR2E3 gene.
|
12963616 |
2003 |
Enhanced S-Cone Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration.
|
11773633 |
2002 |
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We studied the postmortem retina of an ESCS patient homozygous for NR2E3 R311Q.
|
11773633 |
2002 |
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This data coincides with studies in humans showing that mutations in Nr2e3 result in a unique type of retinal degeneration known as enhanced S-cone syndrome, where patients have a 30-fold increase in S-cone sensitivity compared to normal.
|
11487564 |
2001 |