Publication details
Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure
| Authors | |
|---|---|
| Year of publication | 2010 |
| Type | Article in Periodical |
| Magazine / Source | The British journal of dermatology : the official organ of the British Association of Dermatology |
| MU Faculty or unit | |
| Citation | |
| Field | Genetics and molecular biology |
| Keywords | epidermolysis bullosa; intermediate filaments; keratin mutations; molecular dynamics; protein structure |
| Description | Epidermolysis bullosa simplex (EBS) is an inherited skin disorder caused by mutations in the keratin 5 (KRT5) and keratin 14 (KRT14) genes, with fragility of basaů keratinocytes leading to epidermal cytolysis and blistering. Mutations were characterized using polymerase chain reaction (PCR) and DNA sequencing. Further, to explore possible correlations with function, the structural effects of the mutations in segment 2B of KRT5 and KRT14 and associated with EBS in our patients. We have identified mutations in the KRT5 and KRT14 genesin 16 of 23 families affected by EBS in the Czech republic. Eleven different sequence variants were found, of which four have not been reported previously. |
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