Universität zu Köln

Jansen, Patrick A. M., van den Bogaard, Ellen H. ORCID: 0000-0003-4846-0287, Kersten, Ferry F. J., Oostendorp, Corien ORCID: 0000-0003-3992-4262, van Vlijmen-Willems, Ivonne M. J. J., Oji, Vinzenz ORCID: 0000-0003-1380-4828, Traupe, Heiko, Hennies, Hans C., Schalkwijk, Joost ORCID: 0000-0002-1308-1319 and Zeeuwen, Patrick L. J. M. (2012). Cystatin M/E knockdown by lentiviral delivery of shRNA impairs epidermal morphogenesis of human skin equivalents. Exp. Dermatol., 21 (11). S. 889 - 892. HOBOKEN: WILEY-BLACKWELL. ISSN 0906-6705

Full text not available from this repository.

Abstract

The protease inhibitor cystatin M/E (CST6) regulates a biochemical pathway involved in stratum corneum homeostasis, and its deficiency in mice causes ichthyosis and neonatal lethality. Cystatin M/E deficiency has not been described in humans so far, and we did not detect disease-causing mutations in the CST6 gene in a large number of patients with autosomal recessive congenital ichthyosis, who were negative for mutations in known ichthyosis-associated genes. To investigate the phenotype of CST6 deficiency in human epidermis, we used lentiviral delivery of short hairpin RNAs that target CST6 in a 3D reconstructed skin model. Surprisingly, CST6 deficiency did not cause an ichthyosis-like phenotype, but prevented the development of a multilayered epidermis. From this study, we conclude that CST6 deficiency may be incompatible with normal human foetal development.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Jansen, Patrick A. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED van den Bogaard, Ellen H. UNSPECIFIED orcid.org/0000-0003-4846-0287 UNSPECIFIED Kersten, Ferry F. J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Oostendorp, Corien UNSPECIFIED orcid.org/0000-0003-3992-4262 UNSPECIFIED van Vlijmen-Willems, Ivonne M. J. J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Oji, Vinzenz UNSPECIFIED orcid.org/0000-0003-1380-4828 UNSPECIFIED Traupe, Heiko UNSPECIFIED UNSPECIFIED UNSPECIFIED Hennies, Hans C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schalkwijk, Joost UNSPECIFIED orcid.org/0000-0002-1308-1319 UNSPECIFIED Zeeuwen, Patrick L. J. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-480487
DOI:	10.1111/exd.12022
Journal or Publication Title:	Exp. Dermatol.
Volume:	21
Number:	11
Page Range:	S. 889 - 892
Date:	2012
Publisher:	WILEY-BLACKWELL
Place of Publication:	HOBOKEN
ISSN:	0906-6705
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language CATHEPSIN-L; GENE-EXPRESSION; ICHTHYOSIS; MODEL; CORNIFICATION; RNAI; INHIBITOR; MUTATION; SYSTEM; CSTA Multiple languages Dermatology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/48048