|
rs58852768
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Both occur within the mutational "hot spot" of the keratin 10 (K10) 2B rod domain, adjacent to severe EI-associated mutations. p.Q434del and p.R441P formed collapsed K10 fibers rather than aggregates characteristic of severe EI KRT10 mutations such as p.R156C.
|
26176760 |
2015 |
|
rs58852768
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.
|
21271994 |
2011 |
|
rs58852768
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Clinical manifestations and molecular analysis indicated that R156C mutation in keratin 10 gene (KRT10) causes a mild form of epidermolytic hyperkeratosis (EHK) in the presented case.
|
17683385 |
2007 |
|
rs58852768
|
|
|
0.830 |
GeneticVariation |
BEFREE |
A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma.
|
11990254 |
2002 |
|
rs58852768
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A novel substitution in keratin 10 in epidermolytic hyperkeratosis.
|
10201536 |
1999 |
|
rs58852768
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.
|
7512983 |
1994 |
|
rs58852768
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).
|
7507152 |
1994 |
|
rs58852768
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Genetic and clinical mosaicism in a type of epidermal nevus.
|
7526210 |
1994 |
|
rs58852768
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing.
|
7507150 |
1994 |
|
rs58852768
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis.
|
7508181 |
1994 |
|
rs58852768
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.
|
1380725 |
1992 |
|
rs58852768
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.
|
1381287 |
1992 |
|
rs58852768
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
|
|
|
|
rs58075662
|
|
|
0.820 |
GeneticVariation |
BEFREE |
The concept was first demonstrated by detecting the R156H-mutant gene of keratin 10 in Epidermolytic hyperkeratosis (EHK).
|
22133519 |
2012 |
|
rs58901407
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.
|
21271994 |
2011 |
|
rs58901407
|
|
|
0.820 |
GeneticVariation |
BEFREE |
The proband was a Japanese woman with bullous congenital ichthyosiform erythroderma harboring a keratin 10 gene mutation M150T.
|
15583602 |
2004 |
|
rs58901407
|
|
|
0.820 |
GeneticVariation |
BEFREE |
These findings suggest that a normal CCE is formed during the process of human epidermal keratinization, even if the suprabasal keratin filament network is disrupted as with this particular K10 mutation, M150T in BCIE.
|
14705805 |
2003 |
|
rs58075662
|
|
|
0.820 |
GeneticVariation |
BEFREE |
These results confirmed that codon 156 is a frequently mutated site, and that R156H in KRT10 is likely also to be a mutation hotspot in Japanese patients with BCIE.
|
11204523 |
2000 |
|
rs58901407
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A novel substitution in keratin 10 in epidermolytic hyperkeratosis.
|
10201536 |
1999 |
|
rs58901407
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing.
|
7507150 |
1994 |
|
rs58901407
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis.
|
7508181 |
1994 |
|
rs58901407
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.
|
7512983 |
1994 |
|
rs58901407
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).
|
7507152 |
1994 |
|
rs58901407
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Genetic and clinical mosaicism in a type of epidermal nevus.
|
7526210 |
1994 |
|
rs58901407
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.
|
1380725 |
1992 |