|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
Meesmann epithelial corneal dystrophy (MECD) is a rare autosomal dominant disorder caused by dominant-negative mutations within the KRT3 or KRT12 genes, which encode the cytoskeletal protein keratins K3 and K12, respectively.
|
26758872 |
2016 |
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
In addition, we report a variant of uncertain significance in KRT3 in an individual with MECD.
|
26788030 |
2015 |
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.670 |
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
|
0.670 |
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
|
0.670 |
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
|
0.670 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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
|
0.670 |
Biomarker
|
disease |
BEFREE |
Mutational analysis of domains 1A and 2B of the keratin 3 (K3) and keratin 12 (K12) genes from two patients with Meesmann's corneal dystrophy was performed by polymerase chain reaction amplification and direct sequencing.
|
15148206 |
2004 |
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
The molecular basis of Meesmann's epithelial corneal dystrophy (MECD) has recently been attributed to mutations in the cornea specific keratin genes KRT3 and KRT12.
|
12084738 |
2002 |
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.670 |
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
|
0.670 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.
|
9171831 |
1997 |
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.670 |
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
|
0.670 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann
|
0.670 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Polycystic Ovary Syndrome
|
0.300 |
Biomarker
|
disease |
CTD_human |
Progesterone resistance in PCOS endometrium: a microarray analysis in clomiphene citrate-treated and artificial menstrual cycles.
|
21411543 |
2011 |
|
Sclerocystic Ovaries
|
0.300 |
Biomarker
|
disease |
CTD_human |
Progesterone resistance in PCOS endometrium: a microarray analysis in clomiphene citrate-treated and artificial menstrual cycles.
|
21411543 |
2011 |
|
Corneal dystrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Photophobia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Excessive tearing
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Reduced visual acuity
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Nonprogressive
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Punctate opacification of the cornea
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Corneal Neovascularization
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
While all animals displayed conjunctival cells on the corneal surface (by presence of goblet cells and/or keratin 13 expression) and corneal neovascularization, evidence of corneal epithelial regeneration was observed in animals that received RLMSC in the presence of HLE (by staining for keratin 3 and the absence of goblet cells).
|
31208228 |
2019 |
|
Keratoconus
|
0.010 |
Biomarker
|
disease |
BEFREE |
Nineteen spots were identified as differentially expressed between keratoconus and reference epithelium including cytokeratin 3 (< 7.8 fold), gelsolin (1.6 fold), S100A4 (1.9 fold), and enolase 1 (0.72 fold).
|
16083875 |
2006 |
|
Macular dystrophy, corneal type 1
|
0.010 |
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 |
|
Peripheral ulcerative keratitis
|
0.010 |
Biomarker
|
disease |
BEFREE |
This evidence suggests that the 66-kDa autoantigen (BCEA-A) associated with PUK in WG is cytokeratin 3, and this may form the basis of a diagnostic/prognostic test.
|
10440272 |
1999 |