Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
|
0.010 |
Biomarker
|
disease |
BEFREE |
Simulation of three-dimensional structure revealed that both Cod4 and Cod7 shared a similar folding pattern with HyPgdA from Helicobacter pylori and, similar to HyPgdA, a substitution of Thr8 by Ala8 in Cod7 abolished its CDA activity.
|
31602821 |
2020 |
Cone dysfunction syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
PDE6C retinopathy is a severe cone dysfunction syndrome often presenting as typical achromatopsia but without foveal hypoplasia.
|
31826238 |
2019 |
Enzyme inhibition disorder
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Mammalian-cell-based assays and in vitro enzyme inhibition assays against human PDE6C further helped to identify the most potent and selective icariin analogs.
|
31539416 |
2019 |
Atrophoderma maculatum
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).
|
25605338 |
2015 |
Progressive Cone Dystrophy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Sequence analysis of 104 probands with arCD and 10 probands with ACHM revealed compound heterozygous PDE6C mutations in three complete ACHM patients from two families.
|
19615668 |
2009 |
Autosomal recessive retinitis pigmentosa
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
To screen the exons of the gene encoding the alpha'-subunit of cone cyclic guanosine monophosphate (cGMP>phosphodiesterase (PDE6C) for mutations in a group of 456 unrelated patients with various forms of inherited retinal disease, including cone dystrophy, cone-rod dystrophy, macular dystrophy, and simplex/multiplex and autosomal recessive retinitis pigmentosa.
|
10393054 |
1999 |
Cone Dystrophy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
To screen the exons of the gene encoding the alpha'-subunit of cone cyclic guanosine monophosphate (cGMP>phosphodiesterase (PDE6C) for mutations in a group of 456 unrelated patients with various forms of inherited retinal disease, including cone dystrophy, cone-rod dystrophy, macular dystrophy, and simplex/multiplex and autosomal recessive retinitis pigmentosa.
|
10393054 |
1999 |
Retinal Diseases
|
0.020 |
Biomarker
|
group |
BEFREE |
PDE6C retinopathy is a severe cone dysfunction syndrome often presenting as typical achromatopsia but without foveal hypoplasia.
|
31826238 |
2019 |
Retinal Diseases
|
0.020 |
GeneticVariation
|
group |
BEFREE |
To screen the exons of the gene encoding the alpha'-subunit of cone cyclic guanosine monophosphate (cGMP>phosphodiesterase (PDE6C) for mutations in a group of 456 unrelated patients with various forms of inherited retinal disease, including cone dystrophy, cone-rod dystrophy, macular dystrophy, and simplex/multiplex and autosomal recessive retinitis pigmentosa.
|
10393054 |
1999 |
Achromatopsia 1
|
0.060 |
Biomarker
|
disease |
BEFREE |
PDE6C retinopathy is a severe cone dysfunction syndrome often presenting as typical achromatopsia but without foveal hypoplasia.
|
31826238 |
2019 |
Achromatopsia 1
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Genetic sequencing confirmed a homozygous R565Q missense mutation in the catalytic domain of PDE6C, a cone-specific phototransduction enzyme associated with achromatopsia in humans.
|
30667376 |
2019 |
Achromatopsia 1
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Our study significantly contributes to the mutation spectrum of PDE6C and allows for a realistic estimate of the prevalence of PDE6C mutations in ACHM since our entire ACHM cohort comprises 1,074 independent families.
|
30080950 |
2018 |
Achromatopsia 1
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
We uncovered two mechanisms of PDE6C mutations underlying ACHM: (a) folding defects leading to expression of catalytically inactive proteins and (b) markedly diminished ability of Pγ to co-chaperone mutant PDE6C proteins thereby dramatically reducing the levels of functional enzyme.
|
28583373 |
2017 |
Achromatopsia 1
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Here we present the results of a comprehensive study on PDE6C mutations including the mutation spectrum, its prevalence in a large cohort of ACHM/cone dysfunction patients, the clinical phenotype and the functional characterization of mutant PDE6C proteins.
|
21127010 |
2011 |
Achromatopsia 1
|
0.060 |
Biomarker
|
disease |
BEFREE |
Moreover, we show that the spontaneous mouse mutant cpfl1 that features a lack of cone function and rapid degeneration of the cone photoreceptors represents a homologous mouse model for PDE6C associated achromatopsia.
|
19887631 |
2009 |
Color vision defect
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Exotropia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hyperopia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Nystagmus
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Photophobia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Scotoma, Central
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Reduced visual acuity
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Pendular Nystagmus
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Electroretinogram abnormal
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Dyschromatopsia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|