Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
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 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A gene expression profile of human corneal epithelium and the isolation of human keratin 12 cDNA.
|
8759347 |
1996 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy.
|
10781519 |
2000 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy.
|
10781519 |
2000 |
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 |
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 |
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 |
BEFREE |
Comparative studies with well established keratin disorders of other human epithelia underscore the pathogenic relevance of K3 and K12 gene mutations in Meesmann's epithelial corneal dystrophy.
|
12084738 |
2002 |
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 |
BEFREE |
Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.
|
12543196 |
2003 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.
|
12543196 |
2003 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.
|
12543196 |
2003 |
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 |
BEFREE |
In addition, we report four K12 mutations in Meesmann corneal epithelial dystrophy (MCD), an autosomal dominant disorder characterized by intraepithelial microcysts and corneal epithelial fragility in which mutations in keratin 3 (K3) and K12 have recently been implicated.
|
9399908 |
1997 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
In addition, we report four K12 mutations in Meesmann corneal epithelial dystrophy (MCD), an autosomal dominant disorder characterized by intraepithelial microcysts and corneal epithelial fragility in which mutations in keratin 3 (K3) and K12 have recently been implicated.
|
9399908 |
1997 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.
|
10644419 |
2000 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.
|
10644419 |
2000 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.
|
9171831 |
1997 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.
|
9171831 |
1997 |
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.
|
9171831 |
1997 |