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Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.
Choate KA, Lu Y, Zhou J, Elias PM, Zaidi S, Paller AS, Farhi A, Nelson-Williams C, Crumrine D, Milstone LM, Lifton RP. Choate KA, et al. Among authors: crumrine d. J Clin Invest. 2015 Apr;125(4):1703-7. doi: 10.1172/JCI64415. Epub 2015 Mar 16. J Clin Invest. 2015. PMID: 25774499 Free PMC article.
Mutations in Recessive Congenital Ichthyoses Illuminate the Origin and Functions of the Corneocyte Lipid Envelope.
Crumrine D, Khnykin D, Krieg P, Man MQ, Celli A, Mauro TM, Wakefield JS, Menon G, Mauldin E, Miner JH, Lin MH, Brash AR, Sprecher E, Radner FPW, Choate K, Roop D, Uchida Y, Gruber R, Schmuth M, Elias PM. Crumrine D, et al. J Invest Dermatol. 2019 Apr;139(4):760-768. doi: 10.1016/j.jid.2018.11.005. Epub 2018 Nov 22. J Invest Dermatol. 2019. PMID: 30471252 Free article. Review.
Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)-Deficient Canines.
Mauldin EA, Crumrine D, Casal ML, Jeong S, Opálka L, Vavrova K, Uchida Y, Park K, Craiglow B, Choate KA, Shin KO, Lee YM, Grove GL, Wakefield JS, Khnykin D, Elias PM. Mauldin EA, et al. Among authors: crumrine d. Am J Pathol. 2018 Jun;188(6):1419-1429. doi: 10.1016/j.ajpath.2018.02.008. Epub 2018 Mar 13. Am J Pathol. 2018. PMID: 29548991 Free PMC article.
Basis for abnormal desquamation and permeability barrier dysfunction in RXLI.
Elias PM, Crumrine D, Rassner U, Hachem JP, Menon GK, Man W, Choy MH, Leypoldt L, Feingold KR, Williams ML. Elias PM, et al. Among authors: crumrine d. J Invest Dermatol. 2004 Feb;122(2):314-9. doi: 10.1046/j.1523-1747.2003.22258.x. J Invest Dermatol. 2004. PMID: 15009711 Free article. Review.
142 results