Article
Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis.
The Journal of investigative dermatology - 1 Dec 2015
Mirza Haris, Kumar Anil, Craiglow Brittany G, Zhou Jing, Saraceni Corey, Torbeck Richard, Ragsdale Bruce, Rehder Paul, Ranki Annamari, Choate Keith A
Abstract excerpt
Epidermolytic ichthyosis (EI) due to KRT10 mutations is a rare, typically autosomal dominant, disorder characterized by generalized erythema and cutaneous blistering at birth followed by hyperkeratosis and less frequent blistering later in life. We identified two KRT10 mutations p.Q434del and p.R441P in subjects presenting with a mild EI phenotype. Both occur within the mutational "hot spot" of the keratin 10...
Topics
- Adult
- Amino Acid Sequence
- Child
- Female
- Homeostasis
- Humans
- Hyperkeratosis, Epidermolytic
- Keratin-10
- Mitotic Index
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Phenotype