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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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3.371
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18
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter atopic eczema; cornified envelope; filaggrin; ichthyosis vulgaris; mutation
Sprache englisch
Veröffentlichungsjahr 2008
HGF-Berichtsjahr 2008
ISSN (print) / ISBN 1462-2416
e-ISSN 1744-8042
Zeitschrift Pharmacogenomics
Quellenangaben Band: 9, Heft: 4, Seiten: 399-413 Artikelnummer: , Supplement: ,
Verlag Future Medicine
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Lung Health and Immunity (LHI)
Institute of Epidemiology (EPI)
POF Topic(s) 30202 - Environmental Health

30503 - Chronic Diseases of the Lung and Allergies
Forschungsfeld(er)
Genetics and Epidemiology
PSP-Element(e) G-521200-001
FE 73991
G-503900-003
Scopus ID 44949115934
Erfassungsdatum 2008-06-18