Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The p.L164P mutation of KRT9 caused EPPK with a novel symptom of palmar constriction.
|
31525823 |
2019 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The current results broaden the spectrum of KRT9 pathogenic variants responsible for EPPK and have important implications for molecular diagnosis, treatment, and genetic counseling for this family.
|
31074163 |
2019 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
Biomarker
|
disease |
BEFREE |
Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma.
|
30666268 |
2018 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The keratin 9 gene (KRT9) and less frequently the keratin 1 gene (KRT1) are responsible for EPPK.
|
29719290 |
2018 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We performed CRISPR/Cas9-mediated treatment on a knockin (KI) transgenic mouse model that carried a small indel heterozygous mutation of Krt9, c.434delAinsGGCT (p.Tyr144delinsTrpLeu), which caused a humanized EPPK-like phenotype.
|
30195761 |
2018 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of KRT9 gene in a Chinese Han pedigree with epidermolytic palmoplantar keratoderma.
|
27726289 |
2017 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
KRT9 (NM_000226.3:c.487C>T, p.Arg163Trp), and KRT15 (XM_005257346.1:c.212G>T, XP_005257403.1:p.Gly71Val) located in this region, have been identified as two candidate causative genes for EPPK in the Uygur family.
|
27864007 |
2016 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we performed amniotic fluid-DNA-based prenatal testing for three at-risk pregnant EPPK women from three unrelated southern Chinese families who carried the KRT9 missense mutations p.Arg163Trp and p.Arg163Gln, and successfully helped two families to bear normal daughters.
|
24862219 |
2014 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma.
|
23278372 |
2014 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
A recurrent p.M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review.
|
24899405 |
2014 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We described a four-generation family with EPPK and identified a p.R163W mutation of KRT9.
|
25299193 |
2014 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Epidermolytic palmoplantar keratoderma (EPPK) is caused by mutations in KRT9 and less often, KRT1.
|
23397986 |
2013 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9.
|
23397986 |
2013 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have developed a broad preclinical RNAi-based therapeutic package for EPPK containing generic KRT9 siRNAs and allele-specific siRNAs for four prevalent mutations.
|
22402445 |
2012 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We suggest that the frequency of p.R163W in Chinese EPPK patients (31.03%) is consistent with that in the general population (29.33%), and that codon 163 is truly a hotspot mutational site of KRT9.
|
22262370 |
2012 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We speculated that KRT9 plays a complicated role in the genesis of EPPK with knuckle pads and camptodactyly, which needs to be further investigated.
|
21715251 |
2012 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
Biomarker
|
disease |
BEFREE |
We speculated that KRT9 plays a complicated role in the genesis of EPPK with knuckle pads and camptodactyly, which needs to be further investigated.
|
21715251 |
2012 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Vörner type palmoplantar keratoderma: novel KRT9 mutation associated with knuckle pad-like lesions and recurrent mutation causing digital mutilation.
|
21410681 |
2011 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the keratin 9 gene (KRT9) have been shown to cause epidermolytic palmoplantar keratoderma (EPPK; OMIM 144200), an autosomal dominant genodermatosis characterized clinically by diffuse hyperkeratosis limited to the palms and soles, and histologically by epidermolysis in suprabasal layers of the epidermis.
|
19874353 |
2010 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation of the keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma.
|
20964665 |
2010 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the keratin 9 gene (KRT9) have been shown to cause epidermolytic palmoplantar keratoderma (EPPK; OMIM 144200), an autosomal dominant genodermatosis characterized clinically by diffuse hyperkeratosis limited to the palms and soles, and histologically by epidermolysis in suprabasal layers of the epidermis.
|
19874353 |
2010 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Epidermolytic PalmoPlantar keratoderma (EPPK) Vörner-type is an autosomal dominantly inherited skin disease, characterized by severe thickening of the palms and soles, caused by mutations in the keratin K9 (KRT9) gene.
|
19106041 |
2009 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family.
|
17362238 |
2009 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The finding of the same mutation in all available patients, together with the previous reports of the disease, strongly suggested that position 161 of the KRT9 gene also represents a mutation "hotspot" for EPPK.
|
18573708 |
2008 |
Keratoderma, Palmoplantar, Epidermolytic
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A novel keratin 9 gene mutation (Met156Arg) in a Japanese patient with epidermolytic palmoplantar keratoderma.
|
16961539 |
2006 |