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EMSY expression affects multiple components of the skin barrier with relevance to atopic dermatitis.
Elias MS, Wright SC, Remenyi J, Abbott JC, Bray SE, Cole C, Edwards S, Gierlinski M, Glok M, McGrath JA, Nicholson WV, Paternoster L, Prescott AR, Have ST, Whitfield PD, Lamond AI, Brown SJ. Elias MS, et al. Among authors: cole c. J Allergy Clin Immunol. 2019 Aug;144(2):470-481. doi: 10.1016/j.jaci.2019.05.024. Epub 2019 May 31. J Allergy Clin Immunol. 2019. PMID: 31158401 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.
Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects.
Saunders SP, Goh CS, Brown SJ, Palmer CN, Porter RM, Cole C, Campbell LE, Gierlinski M, Barton GJ, Schneider G, Balmain A, Prescott AR, Weidinger S, Baurecht H, Kabesch M, Gieger C, Lee YA, Tavendale R, Mukhopadhyay S, Turner SW, Madhok VB, Sullivan FM, Relton C, Burn J, Meggitt S, Smith CH, Allen MA, Barker JN, Reynolds NJ, Cordell HJ, Irvine AD, McLean WH, Sandilands A, Fallon PG. Saunders SP, et al. Among authors: cole c. J Allergy Clin Immunol. 2013 Nov;132(5):1121-9. doi: 10.1016/j.jaci.2013.08.046. Epub 2013 Sep 29. J Allergy Clin Immunol. 2013. PMID: 24084074 Free PMC article.
Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.
Pohler E, Cunningham F, Sandilands A, Cole C, Digby S, McMillan JR, Aristodemou S, McGrath JA, Smith FJ, McLean WH, Munro CS, Zamiri M. Pohler E, et al. Among authors: cole c. Br J Dermatol. 2015 Nov;173(5):1291-4. doi: 10.1111/bjd.13895. Epub 2015 Aug 22. Br J Dermatol. 2015. PMID: 25965869 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.
Statistical models for RNA-seq data derived from a two-condition 48-replicate experiment.
Gierliński M, Cole C, Schofield P, Schurch NJ, Sherstnev A, Singh V, Wrobel N, Gharbi K, Simpson G, Owen-Hughes T, Blaxter M, Barton GJ. Gierliński M, et al. Among authors: cole c. Bioinformatics. 2015 Nov 15;31(22):3625-30. doi: 10.1093/bioinformatics/btv425. Epub 2015 Jul 23. Bioinformatics. 2015. PMID: 26206307 Free PMC article.
1,486 results