Autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare, highly debilitating skin disorders which significantly impair patients’ quality of life and lack any effective treatment options. Here, we report clinically-relevant in situ correction of the most common ARCI-causing mutati...
Numerous genetic conditions give rise to a scaly skin phenotype as a result of impaired barrier function. Differences in appearance suggest the response of epidermal cells depends upon the basic defect. The present work characterizes the departure of afflicted corneocytes from normal as judged by th...
The cornified outer layer of epidermis (stratum corneum) is our major extra-pulmonary barrier to the environment. This layer results from a well-orchestrated program of terminal differentiation producing corneocytes filled primarily with keratin intermediate filaments tightly connected by disulfide ...
