|
Epidermolysis Bullosa Simplex
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Epidermolysis Bullosa Simplex
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Epidermolysis Bullosa Simplex
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Epidermolysis Bullosa Simplex
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In a second family, inheritance of EBS is linked to loci that map near the keratin 5 gene.
|
1720261 |
1991 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mapping of this mutation to chromosome 12 defines an EBS locus distinct from both EBS1 (Ogna) and EBS2 (Koebner), which are on chromosomes 8 and 1, respectively.
|
1718160 |
1991 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex.
|
7686424 |
1993 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.
|
7520042 |
1994 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function.
|
7534039 |
1995 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Recent advances in molecular biology have enabled the association of epidermolysis bullosa simplex (EBS) with point mutations of keratin 14 and/or keratin 5 genes to be established.
|
7539246 |
1995 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne.
|
7537780 |
1995 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Point mutations in the keratin intermediate filament genes for keratin 5 or keratin 14 are known to cause hereditary skin blistering disorders such as epidermolysis bullosa simplex, in which epidermal keratinocytes are extremely fragile and the skin blisters on mild trauma.
|
8586658 |
1995 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Affected members of two seemingly unrelated families with EBS-MP had a C to T point mutation in the second base position of codon 24 of one of two K5 alleles, leading to a Pro: Leu mutation.
|
8799157 |
1996 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In epidermolysis bullosa simplex blister formation appears within the basal cell layer of the epidermis, and many mutations have been found in the genes of keratin 5 and 14 which are both expressed in basal keratinocytes.
|
8820401 |
1996 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
Biomarker
|
disease |
BEFREE |
A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara.
|
9406827 |
1997 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex.
|
9740251 |
1998 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We report novel keratin 5 and 14 gene mutations in four unrelated German families with the localized subtype of the dominantly inherited blistering disease epidermolysis bullosa simplex Weber-Cockayne (MIM# 131800).
|
9804357 |
1998 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
Biomarker
|
disease |
BEFREE |
Keratin 5 and keratin 14 are known to be essential for the basal keratinocyte cytoskeleton and are defective in several forms of epidermolysis bullosa simplex.
|
10494094 |
1999 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In this study, we describe a novel KRT5 mutation in a German sporadic case of EBS Dowling-Meara.
|
10383750 |
1999 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
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 Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex.
|
10234505 |
1999 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
K5 L12:D12E is the third mutation found to affect this residue in K5-related EBS, indicating the importance of Asp(328) for K5 structure and the dramatic effect that fine changes can have on keratin intermediate filament integrity.
|
10782015 |
2000 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
Biomarker
|
disease |
BEFREE |
Consequently, mutation detection in epidermolysis bullosa simplex has mostly been carried out on cDNA synthesized from KRT5 and KRT14 transcripts in mRNA isolated from skin biopsies.
|
10733662 |
2000 |
|
Epidermolysis Bullosa Simplex
|
0.900 |
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 Simplex
|
0.900 |
Biomarker
|
disease |
BEFREE |
Complete cytolysis and neonatal lethality in keratin 5 knockout mice reveal its fundamental role in skin integrity and in epidermolysis bullosa simplex.
|
11408584 |
2001 |