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Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
Sandilands A, Terron-Kwiatkowski A, Hull PR, O'Regan GM, Clayton TH, Watson RM, Carrick T, Evans AT, Liao H, Zhao Y, Campbell LE, Schmuth M, Gruber R, Janecke AR, Elias PM, van Steensel MA, Nagtzaam I, van Geel M, Steijlen PM, Munro CS, Bradley DG, Palmer CN, Smith FJ, McLean WH, Irvine AD. Sandilands A, et al. Among authors: schmuth m. Nat Genet. 2007 May;39(5):650-4. doi: 10.1038/ng2020. Epub 2007 Apr 8. Nat Genet. 2007. PMID: 17417636
Basis for the permeability barrier abnormality in lamellar ichthyosis.
Elias PM, Schmuth M, Uchida Y, Rice RH, Behne M, Crumrine D, Feingold KR, Holleran WM, Pharm D. Elias PM, et al. Among authors: schmuth m. Exp Dermatol. 2002 Jun;11(3):248-56. doi: 10.1034/j.1600-0625.2001.110308.x. Exp Dermatol. 2002. PMID: 12102664
Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris.
Gruber R, Janecke AR, Fauth C, Utermann G, Fritsch PO, Schmuth M. Gruber R, et al. Among authors: schmuth m. Eur J Hum Genet. 2007 Feb;15(2):179-84. doi: 10.1038/sj.ejhg.5201742. Epub 2006 Dec 13. Eur J Hum Genet. 2007. PMID: 17164798
The regulation of permeability barrier homeostasis.
Feingold KR, Schmuth M, Elias PM. Feingold KR, et al. Among authors: schmuth m. J Invest Dermatol. 2007 Jul;127(7):1574-6. doi: 10.1038/sj.jid.5700774. J Invest Dermatol. 2007. PMID: 17568800 Free article.
200 results