Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Skin fragility caused by biallelic KRT10 mutations: an intriguing form of self-improving epidermolytic ichthyosis.
|
31278741 |
2020 |
Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, we used transcription activator-like effector nuclease technology, to disrupt disease-causing mutant KRT10 alleles in an ex vivo cellular approach, with the intent of developing a therapy for patients with epidermolytic ichthyosis.
|
30998984 |
2019 |
Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Only five recessive mutations causing EI have been described, all of which are located in the central region of the KRT10 gene.
|
29277919 |
2018 |
Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Epidermolytic ichthyosis (EI) is a rare disorder of cornification caused by mutations in KRT1 and KRT10, encoding two suprabasal epidermal keratins.
|
28121638 |
2017 |
Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Epidermolytic ichthyosis (BCIE, OMIM 113800), is an autosomal dominant disorder of the skin caused by mutations in keratin genes KRT1 and KRT10.
|
25904304 |
2016 |
Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our findings illustrate the intrafamilial variability in phenotype and diverse clinical presentations that can occur in EI resulting from a single mutation in KRT10.
|
26338057 |
2016 |
Hyperkeratosis, Epidermolytic
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Extensive lentigo simplex, linear epidermolytic naevus and epidermolytic naevus comedonicus caused by a somatic mutation in KRT10.
|
25495838 |
2015 |
Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our findings provide structural insights into phenotypic variation in EI due to KRT10 mutations.
|
26176760 |
2015 |
Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, ATRA decreased the KRT10 transcripts 200-fold as well as diminished the ratio of mutant to wild-type transcripts from 0.41 to 0.35, thus providing a plausible rational for retinoid therapy of EI due to K10 mutations.
|
22504942 |
2013 |
Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The concept was first demonstrated by detecting the R156H-mutant gene of keratin 10 in Epidermolytic hyperkeratosis (EHK).
|
22133519 |
2012 |
Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma), characterized by ichthyotic, rippled hyperkeratosis, erythroderma and skin blistering, is a rare autosomal dominant disease caused by mutations in keratin 1 or keratin 10 (K10) genes.
|
20804491 |
2011 |
Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis was performed in 28 patients with EI by direct sequencing of KRT1 and KRT10 genes.
|
21271994 |
2011 |
Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Epidermolytic ichthyosis (EI) is a hereditary keratinization disorder caused by mutations in the keratin 1 (KRT1) or keratin 10 (KRT10) genes.
|
21271994 |
2011 |
Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10.
|
20302579 |
2010 |
Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although palmoplantar keratoderma is typically found in patients with KRT1 mutation, our patient presents EHK with palmoplantar involvement and KRT10 mutation.
|
19443303 |
2009 |
Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
The findings of this study suggest that K10 knockout patients show unique clinicopathological features of clinically mild BCIE with blisters occurring within the granular layer.
|
18219278 |
2008 |
Hyperkeratosis, Epidermolytic
|
0.800 |
Biomarker
|
disease |
BEFREE |
The findings of this study suggest that K10 knockout patients show unique clinicopathological features of clinically mild BCIE with blisters occurring within the granular layer.
|
18219278 |
2008 |
Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We propose that the severe EHK phenotype observed in our patient results from a dominant negative effect of the L187F mutant Keratin 1 allele exerted on keratin 10, the associated partner-keratin.
|
17101470 |
2007 |
Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
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 |
Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Since 1994, four cases of epidermal nevus with epidermolytic hyperkeratosis (EH) caused by keratin 10 gene mutations have been reported, although no keratin 1 (K1) gene mutation has yet been reported.
|
17255957 |
2007 |
Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We demonstrate that a recessive mutation in KRT10 leading to a complete human K10 knockout can cause EHK.
|
16505000 |
2006 |
Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
BCIE is caused by a mutation in the keratin 1 (K1) and/or keratin 10 (K10) genes, and most pathogenic mutations are found within the helix initiation and termination motifs of the central helical rod domain (K1 and K10) or the upstream H1 homology domain (K10).
|
16361731 |
2005 |
Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The proband was a Japanese woman with bullous congenital ichthyosiform erythroderma harboring a keratin 10 gene mutation M150T.
|
15583602 |
2004 |
Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis.
|
14708600 |
2003 |
Hyperkeratosis, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Bullous congenital ichthyosiform erythroderma (BCIE) is a genetic disorder of keratinization caused by gene mutations in the conserved sequences of keratin 1 (K1) or K10, which leads to abnormal suprabasal keratin network assembly.
|
14705805 |
2003 |