Condition: Epidermolysis Bullosa Dystrophica


rs121912856 in COL7A1 gene and Epidermolysis Bullosa Dystrophica PMID 20598510 2010 Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations.

PMID 8755915 1996 Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.

PMID 15888141 2005 High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa.

PMID 22266148 2012 The panel of recessively inherited DEB causing recurrent mutations comprise of five variants: c.425A>G, c.682+1G>A, p.R2069C, p.W796X and, unreported before, c.7154delC, which accounts for about 59% of all mutated alleles in this group.

PMID 24032424 2013 Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial.

PMID 21471992 2011 HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa.

PMID 9242516 1997 Haplotype analysis revealed that the mutations existed on similar allelic backgrounds in different patients, consistent with propagation of common British ancestral haplotypes, although R578X and 7786delG also have been described in DEB patients from other ethnic backgrounds.

PMID 20357813 2010 Revertant mosaicism in recessive dystrophic epidermolysis bullosa.

PMID 7833933 1994 A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa.

PMID 26763448 2016 Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB.

PMID 9326325 1997 Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.

PMID 26102279 2015 Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family.

PMID 10504458 1999 Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.

PMID 24947307 2015 Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.

PMID 16971478 2007 Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.

PMID 16484981 2006 Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.

PMID 25155989 2014 Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa.

PMID 19439919 2009 Cetuximab therapy of metastasizing cutaneous squamous cell carcinoma in a patient with severe recessive dystrophic epidermolysis bullosa.

PMID 17916216 2007 COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa.

PMID 15888141 2005 High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa.

PMID 15816848 2005 Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense.

PMID 12653705 2003 Dystrophic epidermolysis bullosa complicated by cutaneous squamous cell carcinoma and pulmonary and renal amyloidosis.

PMID 27544590 2016 Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases.

PMID 12813757 2003 Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.

rs1057517723 in COL7A1;MIR711 gene and Epidermolysis Bullosa Dystrophica PMID 19681861 2009 Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.

PMID 27899325 2017 Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.

PMID 16439963 2006 Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.

rs1032335328 in MIR711;COL7A1 gene and Epidermolysis Bullosa Dystrophica PMID 10504458 1999 Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.

PMID 24279917 2013 Impact of next generation sequencing on diagnostics in a genetic skin disease clinic.

PMID 29130490 2017 Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.