Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
BACKGROUNDRecessive dystrophic epidermolysis bullosa (RDEB) is a severe form of skin fragility disorder due to mutations in COL7A1 encoding basement membrane type VII collagen (C7), the main constituent of anchoring fibrils (AFs) in skin.
|
31167965 |
2019 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
BACKGROUNDRecessive dystrophic epidermolysis bullosa (RDEB) patients have mutations in the COL7A1 gene and thus lack functional type VII collagen (C7) protein; they have marked skin fragility and blistering.
|
31578311 |
2019 |
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 |
In parallel, sequencing of epidermolysis bullosa (EB) genes identified compound heterozygous COL7A1 missense c.410G>A (p.Arg137Gln) and splicing c.3674C>T (p.Ala1225_Gln1241del) mutations, previously unrecognized in dystrophic epidermolysis bullosa (DEB).
|
29182795 |
2018 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Whole exome sequencing of 18 patients with DEB from 17 unrelated Indian families revealed 20 distinct sequence variants in the COL7A1 gene including 2 widely prevalent mutations.
|
29963685 |
2018 |
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 |
Biomarker
|
disease |
BEFREE |
COL7A1, encoding type VII collagen, has been identified as the candidate gene for dystrophic epidermolysis bullosa.
|
27899325 |
2017 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.
|
27899325 |
2017 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.
|
29130490 |
2017 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
Biomarker
|
disease |
BEFREE |
Naturally occurring exon skipping in COL7A1, translating collagen VII, suggests that skipping of exons containing disease-causing mutations may be feasible for the treatment of DEB.
|
27157667 |
2016 |
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 |
CausalMutation
|
disease |
CLINVAR |
Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB.
|
26763448 |
2016 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases.
|
27544590 |
2016 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.
|
24947307 |
2015 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family.
|
26102279 |
2015 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder caused by mutations in the type VII collagen gene, COL7A1.
|
25113066 |
2015 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These data contribute to the expanding database of COL7A1 mutations in DEB and should be useful for genetic counseling and prenatal diagnosis in affected families.
|
25800346 |
2015 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Dystrophic epidermolysis bullosa (DEB) is a group of heritable bullous skin disorders caused by mutations in the COL7A1 gene.
|
24170138 |
2014 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa.
|
25155989 |
2014 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation.
|
23616197 |
2013 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Impact of next generation sequencing on diagnostics in a genetic skin disease clinic.
|
24279917 |
2013 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial.
|
24032424 |
2013 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This is a novel mutation of COL7A1 associated with DEB in a Korean patient, adding to the range of COL7A1 mutations related to DEB.
|
23546949 |
2013 |
Epidermolysis Bullosa Dystrophica
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Dystrophic Epidermolysis Bullosa (DEB) is a rare bullous genodermatosis caused by mutations in COL7A1, which encodes collagen type VII, the main component of anchoring fibrilis.
|
22266148 |
2012 |