Corneal dystrophy
|
0.200 |
Biomarker
|
disease |
BEFREE |
Defective cell adhesion function of solute transporter, SLC4A11, in endothelial corneal dystrophies.
|
31691803 |
2020 |
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These results encourage testing diclofenac eye drops as a treatment for corneal dystrophy in patients whose disease is caused by some SLC4A11 missense mutations.
|
30140924 |
2018 |
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Molecular phenotype of SLC4A11 missense mutants: Setting the stage for personalized medicine in corneal dystrophies.
|
29327391 |
2018 |
Corneal dystrophy
|
0.200 |
Biomarker
|
disease |
BEFREE |
Taken together, these results suggest that SLC4A11 appears to be a Vps35/retromer cargo, and Vps35-regulation of SLC4A11 trafficking may underlie Vps35/retromer regulation of corneal dystrophy.
|
28934248 |
2017 |
Corneal dystrophy
|
0.200 |
Biomarker
|
disease |
BEFREE |
The role of SLC4A11 in these corneal dystrophies is not firmly established, as SLC4A11 function remains unclear.
|
27558157 |
2016 |
Corneal dystrophy
|
0.200 |
Biomarker
|
disease |
BEFREE |
High Throughput Assay Identifies Glafenine as a Corrector for the Folding Defect in Corneal Dystrophy-Causing Mutants of SLC4A11.
|
26641551 |
2015 |
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutations in SLC4A11 cause 2 rare recessive conditions: congenital hereditary endothelial dystrophy (CHED), affecting the cornea alone, and Harboyan syndrome consisting of corneal dystrophy and sensorineural hearing loss.
|
24351571 |
2014 |
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Corneal dystrophy-causing SLC4A11 mutants: suitability for folding-correction therapy.
|
24916015 |
2014 |
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Three genetic corneal dystrophies [congenital hereditary endothelial dystrophy type 2 (CHED2), Harboyan syndrome and Fuchs endothelial corneal dystrophy] arise from mutations of the SLC4a11 gene, which cause blindness from fluid accumulation in the corneal stroma.
|
23813972 |
2013 |
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations.
|
22072594 |
2012 |
Corneal dystrophy
|
0.200 |
Biomarker
|
disease |
BEFREE |
A biochemical framework for SLC4A11, the plasma membrane protein defective in corneal dystrophies.
|
21288032 |
2011 |
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutations in the Borate Cotransporter SLC4A11 cause two early-onset corneal dystrophies: congenital hereditary endothelial dystrophy (CHED) and Harboyan syndrome.
|
20848555 |
2010 |
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These findings extend the implication of the SLC4A11 borate transporter beyond corneal dystrophy to perceptive deafness.
|
17220209 |
2007 |
Corneal dystrophy
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|