Article
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.
The Journal of investigative dermatology - 1 Sept 2013
Eckl Katja-Martina, Tidhar Rotem, Thiele Holger, Oji Vinzenz, Hausser Ingrid, Brodesser Susanne, Preil Marie-Luise, Onal-Akan Aysel, Stock Friedrich, Müller Dietmar, Becker Kerstin, Casper Ramona, Nürnberg Gudrun, Altmüller Janine, Nürnberg Peter, Traupe Heiko, Futerman Anthony H, Hennies Hans C
Abstract excerpt
The barrier function of the human epidermis is supposed to be governed by lipid composition and organization in the stratum corneum. Disorders of keratinization, namely ichthyoses, are typically associated with disturbed barrier activity. Using autozygosity mapping and exome sequencing, we have identified a homozygous missense mutation in CERS3 in patients with congenital ichthyosis characterized by collodion...
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