|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We provide a brief report of long-term survival and reproduction in a mother with EBS due to keratin 5 (KRT5) c.1429G > A (p.E477K) mutation, which causes a particularly severe form of the disease.
|
31579952 |
2019 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Collectively, these findings identify biallelic KRT5 mutations with a phenotypic spectrum varying from mild, localized and generalized to perinatal lethal, expanding the genotypic profile of autosomal recessive EBS.
|
31302245 |
2019 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Induced pluripotent stem cell (iPSC) line from an epidermolysis bullosa simplex patient heterozygous for keratin 5 E475G mutation and with the Dowling Meara phenotype.
|
30933721 |
2019 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in keratin 5 and 14 genes cause the severe skin fragility disorder epidermolysis bullosa simplex (EBS) by collapsing of the keratin cytoskeleton into cytoplasmic protein aggregates.
|
31078522 |
2019 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
Biomarker
|
disease |
BEFREE |
Threonine 150 Phosphorylation of Keratin 5 Is Linked to Epidermolysis Bullosa Simplex and Regulates Filament Assembly and Cell Viability.
|
29080682 |
2018 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
Biomarker
|
disease |
BEFREE |
Here, we summarized the various aspects of the presence of KRT5 and KRT14 in the epidermis, their relation to the incidence and severity of EBS phenotypes, and the processes with which these proteins can affect them.
|
30078200 |
2018 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In this study, we tested how keratin 5 and 14 mutant EBS patient-derived keratinocytes behave in the face of two different types of stressors that are able to induce cell death: ionizing radiation and cytokines TNF-α and TRAIL.
|
28647894 |
2017 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We present the first report of a nails-only phenotype in two patients with epidermolysis bullosa simplex (EBS) and a heterozygous pGlu170Lys mutation and the second reported case of EBS associated with a homozygous p.Glu170Lys mutation in the KRT5 gene.
|
28425111 |
2017 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Ten of these mutations from 9 different pedigrees were novel, a further fatal case caused by KRT5 E477K is reported and in addition the third reported case of digenic inheritance in EBS was also observed.
|
28561874 |
2017 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The aim of our study was to identify the molecular defects in KRT5 and KRT14 in a cohort of 46 Polish and one Belarusian probands with clinical suspicion of EBS and to determine the genotype-phenotype correlation.
|
26432462 |
2016 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Co-expression of K5 and a K14(R125C) mutant that causes the most severe form of EBS resulted in widespread formation of EBS-like cytoplasmic keratin aggregates in epithelial and non-epithelial fly tissues.
|
25830653 |
2015 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in keratin 5 or keratin 14, highly expressed in the basal epidermis, cause the severe skin blistering disease epidermolysis bullosa simplex (EBS) in humans by rendering the keratin cytoskeleton sensitive to mechanical stress; yet, the mechanisms by which individual mutations cause cell fragility are incompletely understood.
|
25961909 |
2015 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
About 75% of cases of epidermolysis bullosa simplex result from mutations in KRT5 and KRT14 genes.
|
24981776 |
2014 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Verrucous carcinoma in epidermolysis bullosa simplex is possibly associated with a novel mutation in the keratin 5 gene.
|
22639907 |
2012 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Epidermolysis bullosa simplex (EBS) is a genodermatosis resulting from KRT5 or KRT14 mutations.
|
21593775 |
2011 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The best-studied skin fragility disorder is epidermolysis bullosa simplex (EBS), an autosomal dominant condition caused by mutations in keratin 5 (K5) or K14.
|
21326298 |
2011 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex.
|
21716320 |
2011 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Previous reports of KRT5 and KRT14 mutations suggest a correlation between the location of the mutation and the severity of the associated EBS phenotype.
|
21375516 |
2011 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
EBS with mottled pigmentation (EBS-MP) is a rare variant featuring childhood-onset reticulate hyperpigmentation and focal palmoplantar keratoderma, typically associated with a P25L KRT5 mutation.
|
20849457 |
2010 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
KRT5 or KRT14 mutations cause epidermolysis bullosa simplex (EBS).
|
20151404 |
2010 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes.
|
20128788 |
2010 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
|
20199538 |
2010 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex.
|
20060687 |
2010 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
|
20199538 |
2010 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations were found in two patients with the EBS-Dowling-Meara variant (EBS-DM) [KRT14-p.Ser128Pro and KRT14-p.Gln374_Leu387dup(14)] and in three patients with localized EBS (KRT14-p.Leu136Pro and KRT5-p.Val143Ala).
|
20030639 |
2010 |