… is a blistering skin disease caused by mutations in the gene COL7A1 encoding collagen VII.
DEB can be inherited … negative effects conferred by a mutated polypeptide. Our data indicate …

… A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering…
, AE A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis …

… Other disorders with skin fragility, where blisters are a minor … acid within the keratin polypeptide
determines the severity of … or termination motifs impair heterodimerization of keratin 5 and …

… of Hereditary Disorders (PACER-HD) for their never-ending … keratin 5 and 14 genes.
Limited to the hands and feet, this subform shows blisters with erythematous halo formed by skin …

… to the plane at which blistering takes place in the skin. Accordingly, … mutations in the genes
encoding keratins 5 and 14 (KRT5 … (the helix initiation and termination peptides, respectively) …

… ) or keratin 5 (K5, also known as KRT5) lead to keratinocyte rupture and skin blistering. Severe
… -1 EBS mutant cells for indicators of ‘de-activation’, that is, cessation of proliferation and …

… of-function mutations in human DST are related to hereditary … Dst-e and plectin interact with
keratin 5/keratin 14 intermediate … One possible reason for the lack of skin blistering in mutant …

… by intraepidermal blistering and skin fragility due to … inherited in an autosomal dominant
manner, or may be a spontaneous mutation, and is most often caused by mutations in keratin 5 …

… group of inherited bullous skin diseases involving skin fragility, characterized by blisters,
erosions… Meanwhile, the epidermis is preserved with intact hemidesmosomes (blue arrows) and …

… a conserved rod region, where EB-associated mutations are … manifestation of EBS, specifically
blistering along the soles. … gene mutations, how these gene mutations are inherited, and …