Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Forty-three unrelated Hungarian and German patients with different DEB phenotypes were screened for novel and recurrent COL7A1 mutations.
|
15888141 |
2005 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the type VII collagen gene (COL7A1) underlie EBD and in a dominant PEB family a glycine substitution mutation has been identified.
|
10583163 |
1999 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We recently demonstrated strong genetic linkage between the type VII collagen gene (COL7A1) and both the dominant and recessive forms of dystrophic epidermolysis bullosa.
|
7861014 |
1995 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of mutation analyses of the COL7A1 gene in Taiwanese pedigrees with recessive DEB.
|
17282977 |
2007 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Dystrophic epidermolysis bullosa (DEB) is a rare hereditary skin disorder caused by mutations in COL7A1, encoding collagen type VII.1 Clinical manifestations of COL7A1 mutations range from generalized skin blistering to mild localized blistering or nail dystrophy.2 The investigation of the molecular basis of DEB has revealed more than 540 different mutations that cannot entirely explain phenotypic variations (HGMD Professional 2010.3, https://portal.biobase-international. com/hgmd/).
|
21275939 |
2011 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations.
|
14727126 |
2004 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).
|
9375848 |
1997 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Previously we identified the COL7A1 mutations R578X and 7786delG as other frequent molecular abnormalities in British recessive DEB patients.
|
10233647 |
1999 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Dystrophic epidermolysis bullosa (DEB) pruriginosa (DEB-Pr) is a rare variant of DEB due to COL7A1 dominant and recessive mutations, which is characterized by severe itching and lichenoid or nodular prurigo-like lesions, mainly involving the extremities.
|
16965329 |
2006 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These data contribute to the expanding database of COL7A1 mutations in DEB.
|
9740253 |
1998 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In screening the COL7A1 gene for mutations in individuals with DEB our data highlight that delineation of glycine substitutions in type VII collagen has important implications for genetic counselling.
|
21448560 |
2011 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
A novel p.Gly1700Asp mutation in COL7A1 responsible for dominant dystrophic epidermolysis bullosa: more severe phenotype in female members of a Chinese family.
|
17900868 |
2008 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We present three unrelated patients with two identical pathogenic compound heterozygous mutations in the COL7A1 gene that developed different clinical forms of dystrophic epidermolysis bullosa-epidermolysis bullosa pruriginosa and mild recessive non-Hallopeau-Siemens-raising the possibility of other genetic or environmental modifying factors responsible for the phenotype of the disease.
|
29272047 |
2018 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the type VII collagen gene (COL7A1) cause an inherited mechanobullous skin disease known as dystrophic epidermolysis bullosa (DEB).
|
17229600 |
2007 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression.
|
17495952 |
2007 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Remarkably, identical mutations in COL7A1, which encodes an anchoring fibril protein present at the dermal-epidermal junction, can cause both DEB and EBP with either autosomal dominant or recessive inheritance.
|
22515571 |
2013 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Dystrophic epidermolysis bullosa (DEB) is a genodermatosis resulting from mutations in COL7A1, the gene encoding type VII collagen.
|
11903238 |
2002 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here, we report novel compound heterozygous recessive COL7A1 missense mutations in 2 siblings presenting different DEB clinical subtypes.
|
21196708 |
2011 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Our results demonstrate that RTM28, which covers >60% of all mutations reported in DEB and is thus the longest RTM described so far for the repair of COL7A1, represents a promising candidate for therapeutic applications.
|
27434145 |
2016 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
COL7A1 gene mutations cause dystrophic epidermolysis bullosa, a skin blistering disorder.
|
9668111 |
1998 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Functional impairment or complete loss of type VII collagen, caused by mutations within COL7A1, lead to the severe recessive form of the skin blistering disease dystrophic epidermolysis bullosa (RDEB).
|
28973459 |
2017 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
Type VII collagen is required for Ras-driven human epidermal tumorigenesis.
|
15774758 |
2005 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene COL7A1 encoding type VII collagen cause dystrophic epidermolysis bullosa, a clinically heterogeneous autosomal dominant or recessive blistering disorder of the skin and mucous membranes.
|
9804332 |
1998 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
[Localised de novo dominant dystrophic epidermolysis bullosa].
|
18374850 |
2008 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This mutation has previously been reported in both dominant DEB pedigrees and as a de novo phenomenon and is the most common COL7A1 mutation in dominant DEB throughout the world.
|
11260189 |
2001 |