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Open Access Green as soon as Postprint is submitted to ZB.
Filaggrin loss-of-function mutations and association with allergic diseases.
Pharmacogenomics 9, 399-413 (2008)
Human skin constitutes a highly organized barrier against environmental agents. Its unrestricted function depends on a complex interplay between multiple proteins and lipids expressed in the terminally differentiating epithelium. Recently, attention has been drawn to the protein filaggrin, an integral part of the epidermis that plays a key role in engineering and maintaining the barrier function. Common loss-of-function mutations within the filaggrin gene have been demonstrated to cause ichthyosis vulgaris, one of the most common heritable disorders of cornification, and to represent major risk factors for atopic eczema and secondary allergic diseases. The observations on filaggrin provide striking new insights into the etiology of atopic diseases and might pave the way for the development of new therapeutic approaches.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
atopic eczema; cornified envelope; filaggrin; ichthyosis vulgaris; mutation
ISSN (print) / ISBN
1462-2416
e-ISSN
1744-8042
Journal
Pharmacogenomics
Quellenangaben
Volume: 9,
Issue: 4,
Pages: 399-413
Publisher
Future Medicine
Reviewing status
Peer reviewed
Institute(s)
Institute of Lung Health and Immunity (LHI)
Institute of Epidemiology (EPI)
Institute of Epidemiology (EPI)