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Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy.
Allen EH, Courtney DG, Atkinson SD, Moore JE, Mairs L, Poulsen ET, Schiroli D, Maurizi E, Cole C, Hickerson RP, James J, Murgatroyd H, Smith FJ, MacEwen C, Enghild JJ, Nesbit MA, Leslie Pedrioli DM, McLean WH, Moore CB. Allen EH, et al. Hum Mol Genet. 2016 Mar 15;25(6):1176-91. doi: 10.1093/hmg/ddw001. Epub 2016 Jan 11. Hum Mol Genet. 2016. PMID: 26758872 Free PMC article.
Development of therapeutic siRNAs for pachyonychia congenita.
Smith FJ, Hickerson RP, Sayers JM, Reeves RE, Contag CH, Leake D, Kaspar RL, McLean WH. Smith FJ, et al. J Invest Dermatol. 2008 Jan;128(1):50-8. doi: 10.1038/sj.jid.5701040. Epub 2007 Aug 30. J Invest Dermatol. 2008. PMID: 17762855 Free article.
Keratin K6c mutations cause focal palmoplantar keratoderma.
Wilson NJ, Messenger AG, Leachman SA, O'Toole EA, Lane EB, McLean WH, Smith FJ. Wilson NJ, et al. J Invest Dermatol. 2010 Feb;130(2):425-9. doi: 10.1038/jid.2009.215. Epub 2009 Jul 16. J Invest Dermatol. 2010. PMID: 19609311 Free article.
A large mutational study in pachyonychia congenita.
Wilson NJ, Leachman SA, Hansen CD, McMullan AC, Milstone LM, Schwartz ME, McLean WH, Hull PR, Smith FJ. Wilson NJ, et al. J Invest Dermatol. 2011 May;131(5):1018-24. doi: 10.1038/jid.2011.20. Epub 2011 Feb 17. J Invest Dermatol. 2011. PMID: 21326300 Free article.
134 results