Article
Human-Induced Pluripotent Stem Cell‒Derived Keratinocytes, a Useful Model to Identify and Explore the Pathological Phenotype of Epidermolysis Bullosa Simplex.
The Journal of investigative dermatology - 1 Oct 2022
Coutier Julien, Bonnette Manon, Martineau Sabrina, Mercadier Aurélie, Domingues Sophie, Saidani Manoubia, Jarrige Margot, Polveche Hélène, Darle Annabelle, Holic Nathalie, Hadj-Rabia Smail, Bodemer Christine, Lemaitre Gilles, Martinat Cécile, Baldeschi Christine
Abstract excerpt
Epidermolysis bullosa simplex (EBS), an autosomal dominant skin disorder, is characterized by skin fragility. Genetically, the majority of cases are related to missense sequence variations in two keratin genes K5 or K14, leading to cytolysis of basal keratinocytes (KCs) and intraepidermal blistering. Progress toward the identification of treatments has been hampered by an incomplete understanding of the...
Topics
- Epidermolysis Bullosa Simplex
- Extracellular Signal-Regulated MAP Kinases
- Humans
- Induced Pluripotent Stem Cells
- Keratin-14
- Keratin-5
- Keratinocytes
- Keratins
- Mutation