Cone monochromatism
|
0.770 |
Biomarker
|
disease |
BEFREE |
Our results showing that the remaining M-opsin dominant cones in aged Opn1mw-/- mice can still be rescued by gene therapy is helpful for establishing the window of treatability in future blue cone monochromacy clinical trials.
|
31469404 |
2019 |
Cone monochromatism
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to investigate the first and downstream genes in the OPN1LW/OPN1MW array in four unrelated Japanese males with BCM.In Case 1, only one gene was present.
|
30065301 |
2018 |
Cone monochromatism
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report.
|
29940872 |
2018 |
Cone monochromatism
|
0.770 |
Biomarker
|
disease |
BEFREE |
We generated an M-opsin knockout mouse (Opn1mw <sup>-/-</sup>) expressing only S-opsin as a model for human BCM.
|
28751656 |
2017 |
Cone monochromatism
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Blue cone monochromacy (BCM) is an X-linked condition caused by a loss-of-function of both the OPN1LW and OPN1MW opsin genes.
|
26153062 |
2016 |
Cone monochromatism
|
0.770 |
Biomarker
|
disease |
BEFREE |
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.
|
27339364 |
2016 |
Cone monochromatism
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
BCM is caused by either mutations in the red (OPN1LW) and green (OPN1MW) cone photoreceptor opsin gene array or large deletions encompassing portions of the gene array and upstream regulatory sequences that would predict a lack of red or green opsin expression.
|
24067079 |
2013 |
Cone monochromatism
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
X-linked cone dystrophy caused by mutation of the red and green cone opsins.
|
20579627 |
2010 |
Cone monochromatism
|
0.770 |
GermlineCausalMutation
|
disease |
ORPHANET |
Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster.
|
15069569 |
2004 |
Cone monochromatism
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Gene conversion between red and defective green opsin gene in blue cone monochromacy.
|
8666378 |
1995 |
Cone monochromatism
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Cone monochromatism
|
0.770 |
Biomarker
|
disease |
CTD_human |
|
|
|
Cone monochromatism
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Cone monochromatism
|
0.770 |
Biomarker
|
disease |
HPO |
|
|
|
Deuteranomaly
|
0.620 |
AlteredExpression
|
disease |
BEFREE |
CBD gene expression data were compared with whole blood and lung tissue in sarcoidosis from the Gene Expression Omnibus.We confirmed almost 450 genes that were significantly differentially expressed between CBD and controls.
|
27103383 |
2016 |
Deuteranomaly
|
0.620 |
GeneticVariation
|
disease |
BEFREE |
In order to determine the frequency of microtubule-associated protein tau gene (MAPT) mutations and rare variants in CBD, we performed a systematic sequence analysis of MAPT coding and 3′ untranslated region (3′UTR) in a large cohort of autopsy-confirmed CBD patients (N = 109).
|
24121548 |
2014 |
Deuteranomaly
|
0.620 |
GeneticVariation
|
disease |
UNIPROT |
Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.
|
12051694 |
2002 |
Deuteranomaly
|
0.620 |
GeneticVariation
|
disease |
UNIPROT |
Defective colour vision associated with a missense mutation in the human green visual pigment gene.
|
1302020 |
1992 |
Deuteranomaly
|
0.620 |
Biomarker
|
disease |
CTD_human |
|
|
|
Deuteranomaly
|
0.620 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Deuteranomaly
|
0.620 |
Biomarker
|
disease |
HPO |
|
|
|
BORNHOLM EYE DISEASE
|
0.300 |
GeneticVariation
|
disease |
ORPHANET |
Variations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy.
|
23322568 |
2013 |
Cone-Rod Dystrophy 2
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
X-linked cone dystrophy caused by mutation of the red and green cone opsins.
|
20579627 |
2010 |
Achromatopsia incomplete, X-linked
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster.
|
15069569 |
2004 |
Color Blindness, Red-Green
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
Here, we show that LVAVA haplotype of the OPN1LW gene and MVAVA haplotype of the OPN1MW gene cause apparently nonsyndromic high myopia in young patients but lead to progressive cone-rod dystrophy with deuteranopia and protanopia in middle-aged patients corresponding to a previously unknown disease course.
|
28358949 |
2017 |