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Rodriguez, E. ; Illig, T. ; Weidinger, S.*

Filaggrin loss-of-function mutations and association with allergic diseases.

Pharmacogenomics 9, 399-413 (2008)
DOI
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter atopic eczema; cornified envelope; filaggrin; ichthyosis vulgaris; mutation
ISSN (print) / ISBN 1462-2416
e-ISSN 1744-8042
Zeitschrift Pharmacogenomics
Quellenangaben Band: 9, Heft: 4, Seiten: 399-413 Artikelnummer: , Supplement: ,
Verlag Future Medicine
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) CCG Environmental Dermatology and Allergology (ILBD-KAU)
Institute of Epidemiology (EPI)
Institute of Epidemiology (EPI)