|
Junctional Epidermolysis Bullosa
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Junctional Epidermolysis Bullosa
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.
|
7550320 |
1995 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
In conclusion, this study reveals that the BP180 antigen is deficient and the BP180 mRNA is reduced in generalized atrophic benign epidermolysis bullosa.
|
7883981 |
1995 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The clinical phenotype of junctional epidermolysis bullosa in the proband in this family probably arises due to a combination of the glycine substitution and the internal duplication in COL17A1, whereas the dental abnormalities of her offspring may be the result of the glycine substitution in COL17A1 alone, resulting in this dominantly inherited clinical phenotype.
|
8669466 |
1996 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
Biomarker
|
disease |
BEFREE |
Highlights of the efforts in the past year include the identification of mutations in an epidermal transglutaminase gene in lamellar ichthyosis as well as mutations in an additional five keratin genes causing four different abnormal phenotypes, and mutations in beta 4 integrin and bullous pemphigoid antigen 2 genes in junctional epidermolysis bullosa and in the p16NK-4a gene in 50% of kindreds with familial melanoma.
|
8791519 |
1996 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We have identified several intragenic polymorphisms in COL17A1, as well as mutations, in both alleles, in two Finnish families with GABEB.
|
9012408 |
1997 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Thus, PTCs on both alleles of BPAG2 are present in all of these GABEB families.
|
9077475 |
1997 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The homozygous nonsense mutations in the COL17A1 gene were consistent with the absence of the collagen from the skin and with the GABEB phenotype, whereas homozygosity for the missense mutation resulted in expression of aberrant collagen XVII and, clinically, in localisata JEB.
|
9199555 |
1997 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa.
|
9204958 |
1997 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Thus, these studies demonstrate that: (i) LAD-1 and BP180 are normally expressed in all subtypes of JEB except GABEB, (ii) the majority of GABEB patients show absent or near absent expression of both LAD-1 and BP180 but normal expression of laminin-5, and (iii) a smaller subset of GABEB patients show normal LAD-1 and BP180 expression but express persistent but reduced levels of laminin-5.
|
9284104 |
1997 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This report documents a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa, and applies a new methodology to define and characterize the resulting mRNA splice variants.
|
9457913 |
1998 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, we reported five Austrian families with generalized atrophic benign epidermolysis bullosa who share the same COL17A1 mutation.
|
9457914 |
1998 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Transfection of GABEB keratinocytes with cDNAs for wild-type or a mutant of BP180 lacking the collagenous extracellular domain resulted in the expression of recombinant BP180 proteins that were correctly polarized at the basal cell surface together with alpha 6 beta 4.
|
9521865 |
1998 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
Biomarker
|
disease |
BEFREE |
Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa.
|
9640376 |
1998 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
Biomarker
|
disease |
BEFREE |
Immunofluorescence studies showed a markedly reduced expression of the 180-kDa bullous pemphigoid antigen (BP180), and northern analysis of cultured keratinocytes indicated that the gene encoding for BP180 is affected in these GABEB patients.
|
9666835 |
1998 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In previous studies, mutations in the gene (COL17A1) encoding the type XVII collagen, a transmembrane component of hemidesmosomes, were detected in most patients with GABEB.
|
9690563 |
1998 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa.
|
9740252 |
1998 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These findings indicate that the absent expression of LAD-1 is observed in a BPAG2-deficient generalized atrophic benign epidermolysis bullosa patient with mutations in both alleles of COL17A1, and not in other epidermolysis bullosa subtypes.
|
9804354 |
1998 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Generalized atrophic benign epidermolysis bullosa is an autosomal recessive subepidermal blistering disease typified by null mutations in COL17A1.
|
10330419 |
1999 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
|
10577906 |
1999 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
In In this study we describe a GABEB patient who showed absent expression of BP180 in the cultured keratinocytes as well as in the skin.
|
10636730 |
1999 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain.
|
10951237 |
2000 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa.
|
11168815 |
2001 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
Biomarker
|
disease |
BEFREE |
The clinical features of our patient confirm that BP180 deficiency usually results in a non-Herlitz JEB form.
|
11244233 |
2001 |
|
Junctional Epidermolysis Bullosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the type XVII collagen gene (COL17A1) have been established to be the molecular basis of non-Herlitz junctional epidermolysis bullosa (JEB-nH), an inherited skin blistering disorder.
|
11406649 |
2001 |