'All these mutations target the initiation codon of methionine." As previously reported in EBS, immunostaining for
keratin 14 is positive, outlining areas of cleavage within the basal cell layer of the skin.
Basally expressed
keratin 14 is a known direct transcriptional target of [DELTA]Np63[alpha] [64].
(15,17,23,24) In contrast,
keratin 14 and high-molecular-weight keratins detected by the antibody 34pE12 expression is less common.
The disorder is due to gene defects that result in a lack of one or both of two of these proteins, keratin 5 (K5) and
keratin 14 (K14).
"Gene-corrected graft sites showed fully differentiated epidermis with spinous and granular layers, which were positive for epidermal markers
keratin 14, keratin 1, and loricirin resembling normal skin," Dr.