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 |
Novel K12 mutations were linked to Meesmann's corneal dystrophy in two different patients.
|
15148206 |
2004 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
We have identified a novel missense mutation within the highly conserved helix-initiation motif of KRT12 causing Meesmann;s corneal dystrophy in a German family.
|
20577595 |
2010 |
Macular dystrophy, corneal type 1
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
In addition, two mutations in the helix initiation motif of K12 were found in families with MCD.
|
10644419 |
2000 |
Macular dystrophy, corneal type 1
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
A novel missense mutation (R503P) in KRT3 and another novel missense mutation (Y429C) in KRT12 lead to MCD in 2 unrelated Taiwanese families.
|
16227835 |
2005 |
Macular dystrophy, corneal type 1
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
In this study, four new K12 mutations (Arg135Gly, Arg135Ile, Tyr429Asp, and Leu140Arg) were identified in three unrelated MCD pedigrees and in one individual with MCD.
|
9399908 |
1997 |
Macular dystrophy, corneal type 1
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
This novel mutation (Ala137Pro) of the keratin 12 gene found in a Japanese family had caused MCD.
|
12543196 |
2003 |