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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: scott ca. 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.
Connexins in epidermal homeostasis and skin disease.
Scott CA, Tattersall D, O'Toole EA, Kelsell DP. Scott CA, et al. Biochim Biophys Acta. 2012 Aug;1818(8):1952-61. doi: 10.1016/j.bbamem.2011.09.004. Epub 2011 Sep 10. Biochim Biophys Acta. 2012. PMID: 21933662 Free article. Review.
New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report.
Salas-Alanís JC, Scott CA, Fajardo-Ramírez OR, Duran C, Moreno-Treviño MG, Kelsell DP. Salas-Alanís JC, et al. Among authors: scott ca. Mol Syndromol. 2016 Jul;7(3):160-3. doi: 10.1159/000446619. Epub 2016 Jun 2. Mol Syndromol. 2016. PMID: 27587992 Free PMC article.
Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes.
Pigors M, Common JEA, Wong XFCC, Malik S, Scott CA, Tabarra N, Liany H, Liu J, Limviphuvadh V, Maurer-Stroh S, Tang MBY, Lench N, Margolis DJ, van Heel DA, Mein CA, Novak N, Baurecht H, Weidinger S, McLean WHI, Irvine AD, O'Toole EA, Simpson MA, Kelsell DP. Pigors M, et al. Among authors: scott ca. J Invest Dermatol. 2018 Dec;138(12):2674-2677. doi: 10.1016/j.jid.2018.05.013. Epub 2018 May 30. J Invest Dermatol. 2018. PMID: 29857066 Free article. No abstract available.
254 results