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Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.
Lacroix M, Lacaze-Buzy L, Furio L, Tron E, Valari M, Van der Wier G, Bodemer C, Bygum A, Bursztejn AC, Gaitanis G, Paradisi M, Stratigos A, Weibel L, Deraison C, Hovnanian A. Lacroix M, et al. Among authors: deraison c. J Invest Dermatol. 2012 Mar;132(3 Pt 1):575-82. doi: 10.1038/jid.2011.366. Epub 2011 Nov 17. J Invest Dermatol. 2012. PMID: 22089833 Free article.
LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum.
Ishida-Yamamoto A, Deraison C, Bonnart C, Bitoun E, Robinson R, O'Brien TJ, Wakamatsu K, Ohtsubo S, Takahashi H, Hashimoto Y, Dopping-Hepenstal PJ, McGrath JA, Iizuka H, Richard G, Hovnanian A. Ishida-Yamamoto A, et al. Among authors: deraison c. J Invest Dermatol. 2005 Feb;124(2):360-6. doi: 10.1111/j.0022-202X.2004.23583.x. J Invest Dermatol. 2005. PMID: 15675955 Free article.
Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome.
Descargues P, Deraison C, Prost C, Fraitag S, Mazereeuw-Hautier J, D'Alessio M, Ishida-Yamamoto A, Bodemer C, Zambruno G, Hovnanian A. Descargues P, et al. Among authors: deraison c. J Invest Dermatol. 2006 Jul;126(7):1622-32. doi: 10.1038/sj.jid.5700284. Epub 2006 Apr 20. J Invest Dermatol. 2006. PMID: 16628198 Free article.
Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing.
Bonnart C, Deraison C, Lacroix M, Uchida Y, Besson C, Robin A, Briot A, Gonthier M, Lamant L, Dubus P, Monsarrat B, Hovnanian A. Bonnart C, et al. Among authors: deraison c. J Clin Invest. 2010 Mar;120(3):871-82. doi: 10.1172/JCI41440. Epub 2010 Feb 22. J Clin Invest. 2010. PMID: 20179351 Free PMC article.
48 results