|
Epidermolysis Bullosa Herpetiformis Dowling-Meara
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Epidermolysis bullosa simplex generalized severe (EBS-gen sev) is a genetic disorder caused by mutation in the KRT5 or KRT14 genes.
|
29932457 |
2019 |
|
Epidermolysis Bullosa Herpetiformis Dowling-Meara
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Epidermolysis bullosa simplex, generalized severe (EBS-gen sev) is one of the major forms of EBS, caused by mutations of the keratin 5 (<i>KRT5)</i> or keratin 14 (<i>KRT14)</i>.
|
31772641 |
2019 |
|
Epidermolysis Bullosa Herpetiformis Dowling-Meara
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis.
|
30515866 |
2019 |
|
Epidermolysis Bullosa Herpetiformis Dowling-Meara
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Generalized severe epidermolysis bullosa simplex (EBS-gen sev) is a genetic blistering skin disease in which autosomal dominant mutations in either the keratin KRT5 or KRT14 genes lead to impaired function of the intermediate filament cytoskeleton in the basal epidermis.
|
30099737 |
2019 |
|
Epidermolysis Bullosa Herpetiformis Dowling-Meara
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Generalized severe epidermolysis bullosa simplex (EBS-gen sev) is caused by mutations within either the KRT5 or KRT14 gene, phenotypically resulting in blistering and wounding of the skin and mucous membranes after minor mechanical friction.
|
30382914 |
2018 |
|
Epidermolysis Bullosa Herpetiformis Dowling-Meara
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
|
21623745 |
2011 |
|
Epidermolysis Bullosa Herpetiformis Dowling-Meara
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
|
16882168 |
2006 |
|
Epidermolysis Bullosa Herpetiformis Dowling-Meara
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.
|
16786515 |
2006 |
|
Epidermolysis Bullosa Herpetiformis Dowling-Meara
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.
|
12655565 |
2003 |
|
Epidermolysis Bullosa Herpetiformis Dowling-Meara
|
0.950 |
Biomarker
|
disease |
MGD |
Complete cytolysis and neonatal lethality in keratin 5 knockout mice reveal its fundamental role in skin integrity and in epidermolysis bullosa simplex.
|
11408584 |
2001 |
|
Epidermolysis Bullosa Herpetiformis Dowling-Meara
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.
|
10730767 |
2000 |
|
Epidermolysis Bullosa Herpetiformis Dowling-Meara
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
|
9989794 |
1999 |
|
Epidermolysis Bullosa Herpetiformis Dowling-Meara
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara.
|
9406827 |
1997 |
|
Epidermolysis Bullosa Herpetiformis Dowling-Meara
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients.
|
9036937 |
1997 |
|
Epidermolysis Bullosa Herpetiformis Dowling-Meara
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex.
|
8757772 |
1996 |
|
Epidermolysis Bullosa Herpetiformis Dowling-Meara
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering.
|
1372711 |
1992 |
|
Epidermolysis Bullosa Herpetiformis Dowling-Meara
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Epidermolysis Bullosa Herpetiformis Dowling-Meara
|
0.950 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Epidermolysis Bullosa Herpetiformis Dowling-Meara
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Epidermolysis Bullosa Herpetiformis Dowling-Meara
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
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 |