Integrating Animal Models and In Vitro Tissue Models to Elucidate the Role of Desmosomal Proteins in Diseases. (February 2014)

• Record Type: Journal Article
• Authors: Koster, Maranke I.; Dinella, Jason; Chen, Jiangli; O'Shea, Charlene; Koch, Peter J.
• Is Part Of: Cell communication & adhesion. Volume 21:Number 1(2014)
• Page Start: 55
• Page End: 63
• Publication Date: 2014-02
• Subjects: Cell adhesion -- Periodicals; Cell interaction -- Periodicals; Cellular signal transduction -- Periodicals; 571.6
• DOI: 10.3109/15419061.2013.876015
• Languages: English
• ISSNs: 1541-9061

Abstract

<abstract> <title>Abstract</title> <p>Desmosomes are intercellular junctions that provide tissues with structural stability. These junctions might also act as signaling centers that transmit environmental clues to the cell, thereby affecting cell differentiation, migration, and proliferation. The importance of desmosomes is underscored by devastating skin and heart diseases caused by mutations in desmosomal genes. Recent observations suggest that abnormal desmosomal protein expression might indirectly contribute to skin disorders previously not linked to these proteins. For example, it has been postulated that reduced desmosomal protein expression occurs in patients affected by Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC), a skin fragility disorder caused by mutations in the transcription factor <italic>TP63</italic>. Currently, it is not clear how these changes in desmosomal gene expression contribute to AEC. We will discuss new approaches that combine <italic>in vitro</italic> and <italic>in vivo</italic> models to elucidate the role of desmosomal gene deregulation in human skin diseases such as AEC.</p> </abstract>