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Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.
Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O'Toole EA, Kelsell DP, Yang Y. Lin Z, et al. Among authors: cole c. Am J Hum Genet. 2015 Mar 5;96(3):440-7. doi: 10.1016/j.ajhg.2014.12.026. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683118 Free PMC article.
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WH. Pohler E, et al. Among authors: cole c. Nat Genet. 2012 Nov;44(11):1272-6. doi: 10.1038/ng.2444. Epub 2012 Oct 14. Nat Genet. 2012. PMID: 23064416 Free PMC article.
Expanding the Phenotypic Spectrum of Olmsted Syndrome.
Wilson NJ, Cole C, Milstone LM, Kiszewski AE, Hansen CD, O'Toole EA, Schwartz ME, Irwin McLean WH, Smith FJD. Wilson NJ, et al. Among authors: cole c. J Invest Dermatol. 2015 Nov;135(11):2879-2883. doi: 10.1038/jid.2015.217. Epub 2015 Jun 12. J Invest Dermatol. 2015. PMID: 26067147 Free PMC article. No abstract available.
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. Among authors: cole c. 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.
Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.
Wilson NJ, Cole C, Kroboth K, Hunter WN, Mann JA, McLean WH, Kernland Lang K, Beltraminelli H, Sabroe RA, Tiffin N, Sobey GJ, Borradori L, Simpson E, Smith FJ. Wilson NJ, et al. Among authors: cole c. Br J Dermatol. 2017 Jan;176(1):270-274. doi: 10.1111/bjd.14914. Epub 2016 Sep 24. Br J Dermatol. 2017. PMID: 27479915 Free PMC article. No abstract available.
Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.
McAleer MA, Pohler E, Smith FJ, Wilson NJ, Cole C, MacGowan S, Koetsier JL, Godsel LM, Harmon RM, Gruber R, Crumrine D, Elias PM, McDermott M, Butler K, Broderick A, Sarig O, Sprecher E, Green KJ, McLean WH, Irvine AD. McAleer MA, et al. Among authors: cole c. J Allergy Clin Immunol. 2015 Nov;136(5):1268-76. doi: 10.1016/j.jaci.2015.05.002. Epub 2015 Jun 12. J Allergy Clin Immunol. 2015. PMID: 26073755 Free PMC article.
1,484 results