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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Oral steroid improves bullous pemphigoid-like clinical manifestations in non-Herlitz junctional epidermolysis bullosa with COL17A1 mutation.
|
17596158 |
2007 |
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 |
Occasionally mutations in the COL17A1 gene may result in split levels suggesting epidermolysis bullosa simplex rather than junctional epidermolysis bullosa.
|
15377356 |
2004 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Linkage analysis revealed that GABEB in the family was linked to COL17A1 with a maximum LOD score of 3.08.
|
16172808 |
2005 |
Junctional Epidermolysis Bullosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our data reveal that in patients with COL17A1 mutations a localized nH-JEB phenotype can be differentiated from a generalized nH-JEB phenotype by IF antigen mapping.
|
17263807 |
2007 |
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 |
WES revealed 4 variations in 3 genes (LAMA3, LAMB3 and COL17A1) that are implicated in JEB.None of the variations were recurrent.
|
28087116 |
2017 |
Junctional Epidermolysis Bullosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Bullous pemphigoid antigen 2 (BP180; COL17A1) collagen gene mutations typically result in nonlethal junctional epidermolysis bullosa.
|
14962091 |
2004 |
Junctional Epidermolysis Bullosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa.
|
11912005 |
2002 |
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 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
|
10577906 |
1999 |
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 |
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 |
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 |
A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel.
|
14614394 |
2004 |
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 |
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 |
Mutations in the gene COL17A1 cause non-Herlitz junctional epidermolysis bullosa.
|
15009107 |
2004 |
Junctional Epidermolysis Bullosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations.
|
22318390 |
2012 |
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 |