Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We identified a heterozygous genetic mutation (c.394 C>G, p.L132V) in the KRT12 gene in six Japanese patients with inherited Meesmann corneal dystrophy.
|
30535821 |
2019 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We present a novel KRT12 mutation, representing the first de novo mutation and the first indel in KRT12 associated with MECD.
|
26788030 |
2015 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy.
|
26758872 |
2016 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Combined with an effective delivery vehicle this siRNA approach represents a viable treatment option for prevention of the MECD pathology observed in K12-Leu132Pro heterozygous individuals.
|
24801514 |
2014 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
We identified a novel missense mutation of the KRT12 gene in Meesmann corneal dystrophy.
|
24099278 |
2014 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We identified a novel missense mutation of the KRT12 gene in Meesmann corneal dystrophy.
|
24099278 |
2014 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To date, all reported cases of MECD have been associated with either a single mutation in one exon of the keratin-3 gene (KRT3) or a single mutation in one of two exons of the keratin-12 gene (KRT12).
|
23569037 |
2013 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy.
|
23233254 |
2013 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.
|
23222558 |
2013 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.
|
23222558 |
2013 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy.
|
22174841 |
2011 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.
|
20577595 |
2010 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.
|
20577595 |
2010 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
The novel L433R mutation of the KRT12 gene found in two members of this Japanese family caused MECD.
|
18661274 |
2008 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The novel L433R mutation of the KRT12 gene found in two members of this Japanese family caused MECD.
|
18661274 |
2008 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
The novel L433R mutation of the KRT12 gene found in two members of this Japanese family caused MECD.
|
18661274 |
2008 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family.
|
18245975 |
2008 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We have identified a novel mutation in the KRT12 gene that is associated with a symptomatic phenotype of Meesmann's corneal dystrophy.
|
17653038 |
2007 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
We have identified a novel mutation in the KRT12 gene that is associated with a symptomatic phenotype of Meesmann's corneal dystrophy.
|
17653038 |
2007 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
We have identified a novel mutation in the KRT12 gene that is associated with a symptomatic phenotype of Meesmann's corneal dystrophy.
|
17653038 |
2007 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.
|
16352477 |
2005 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.
|
16352477 |
2005 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.
|
16227835 |
2005 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.
|
16227835 |
2005 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Novel K12 mutations were linked to Meesmann's corneal dystrophy in two different patients.
|
15148206 |
2004 |