- Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotypeVinzenz Oji
Department of Dermatology, University of Muenster, Von Esmarch Str 58 D 48149, Munster, Germany
Hum Mol Genet 15:3083-97. 2006..We conclude that BSI is caused by TGase-1 deficiency and suggest that it is a temperature-sensitive phenotype...
- [Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification]V Oji
Klinik und Poliklinik für Hautkrankheiten, Allgemeine Dermatologie und Venerologie, Von Esmarch Str 58, 48149, Munster
Hautarzt 61:891-902; quiz 903-4. 2010..In Germany the Network for Ichthyoses and Related Keratinization Disorders (NIRK) and the patient organization Selbsthilfe Ichthyose e.V. provide contact points for diagnostic and therapeutic questions...
- Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profileA M Perusquía-Ortiz
Department of Dermatology, University of Munster, Munster, Germany
J Eur Acad Dermatol Venereol 27:1552-8. 2013..Data on the effect of FLG mutations on epidermal barrier function in IV are very scarce...
- Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosisM J Arin
Department of Dermatology, University of Cologne, Kerpener Strasse 62, 50931 Cologne, Germany
Br J Dermatol 164:442-7. 2011..The presence of palmoplantar keratoderma suggests KRT1 mutations, whereas KRT10 mutations in most instances give rise to the nonpalmoplantar variants...
- Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroupV Oji
Department of Dermatology, University of Munster, Von Esmarch Str 58, 48149 Munster, Germany
Br J Dermatol 160:771-81. 2009..Ichthyosis vulgaris (IV) is a genetic disorder with a prevalence of 1:250-1000 caused by filaggrin (FLG) mutations, which also predispose to atopic diseases...
- Plasminogen activator inhibitor-2 is expressed in different types of congenital ichthyosis: in vivo evidence for its cross-linking into the cornified cell envelope by transglutaminase-1V Oji
Department of Dermatology, University of Munster, Germany
Br J Dermatol 154:860-7. 2006..Protease inhibitors are essential for skin homeostasis and in particular for the regulation of the desquamation process. Therefore, an aberrant expression of PAI-2 could be involved in the pathogenesis of certain cornification disorders...