Junctional Epidermolysis Bullosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
|
30016581 |
2018 |
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 |
Here we exploited a novel naturally occurring COL17A1 mutation, leading to an in-frame lysine duplication within the coiled-coil structure of the juxtamembranous NC16A domain of collagen XVII, which resulted in a mild phenotype of JEB due to reduced membrane-anchored collagen XVII molecules.
|
28365758 |
2017 |
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 |
GeneticVariation
|
disease |
BEFREE |
COL17A1 mutations and their clinical and cellular consequences were systematically analysed in 43 patients with JEB-other.
|
21357940 |
2011 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Due to nonsense mediated mRNA decay, the position of these PTC mutations is thought not to influence the effect of COL17A1 transcript loss and hence the severity of the nH-JEB phenotype.
|
16820943 |
2006 |
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 |
Mutations in the collagen XVII gene, COL17A1, are associated with junctional epidermolysis bullosa.
|
16354180 |
2005 |
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 |
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 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 |
Mutations in the gene COL17A1 cause non-Herlitz junctional epidermolysis bullosa.
|
15009107 |
2004 |
Junctional Epidermolysis Bullosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The specificity of this finding was confirmed using BP180-deficient keratinocytes from a patient with generalized atrophic benign epidermolysis bullosa, where no tPA release was observed after stimulation with BP IgG.
|
15008985 |
2004 |
Junctional Epidermolysis Bullosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To test its applicability in skin gene therapy, SMaRT was used in the context of the 4003delTC mutation in the collagen XVII gene (COL17A1) causing generalized atrophic benign junctional epidermolysis bullosa.
|
12631245 |
2003 |
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 |
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 |
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 |
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 |
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
|
10577906 |
1999 |
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 |
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 |