… common subtype and results in blistering within or above the … helix initiation peptide, HIP)
and 2B (helix termination peptide, … mutational “hot spots” in most hereditary keratin disorders.7 …

… a group of hereditary disorders, in which blisters occur … keratin 5 and keratin 14 have a
central rod-like alpha helix … initiation peptide (HIP) and helix termination peptide (HTP) 9 . …

… an inherited mechanobullous disease resulting in blistering … common subtype and results
in blistering within or above the … helix initiation peptide, HIP) and 2B (helix termination peptide, …

… Mutations in keratins 5/14 or in other genes that encode … include skin fragility, with general
or localized blistering in … of the helix initiation and helix termination peptides and in the …

… These linker peptides are denoted as LI, L I2, and L2 and … termination motif at the end of the
2B segment (Figure 5). … , thus preventing cell lysis and blister formation and other secondary …

… 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 …

… or termination motifs blocking the heterodimerization of keratin … This mutation changes the
plectin polypeptide, which … PLEC mutations is characterized by generalized skin blistering that …

… genetic bullous skin diseases characterized by the separation of the skin at the basal
keratinocytes region after trauma and blister … the defects of keratins 5 and14 (KRT5 and KRT14). …

… to blistering and tearing, is primarily caused by mutations in … patients harboring mutations in
genes encoding keratin 5 (KRT5) … conserved amino acids in the helix initiation or termination …

… skin disorder which is typically identified by blistering of the … cells are observed to be
expressing only keratins 5 and 14, but as the … impact of the medication after cessation of treatment. …