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RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.
Blaydon DC, Etheridge SL, Risk JM, Hennies HC, Gay LJ, Carroll R, Plagnol V, McRonald FE, Stevens HP, Spurr NK, Bishop DT, Ellis A, Jankowski J, Field JK, Leigh IM, South AP, Kelsell DP. Blaydon DC, et al. Among authors: south ap. Am J Hum Genet. 2012 Feb 10;90(2):340-6. doi: 10.1016/j.ajhg.2011.12.008. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265016 Free PMC article.
Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
Blaydon DC, Lind LK, Plagnol V, Linton KJ, Smith FJ, Wilson NJ, McLean WH, Munro CS, South AP, Leigh IM, O'Toole EA, Lundström A, Kelsell DP. Blaydon DC, et al. Among authors: south ap. Am J Hum Genet. 2013 Aug 8;93(2):330-5. doi: 10.1016/j.ajhg.2013.06.008. Epub 2013 Jul 3. Am J Hum Genet. 2013. PMID: 23830519 Free PMC article.
NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.
South AP, Purdie KJ, Watt SA, Haldenby S, den Breems N, Dimon M, Arron ST, Kluk MJ, Aster JC, McHugh A, Xue DJ, Dayal JH, Robinson KS, Rizvi SH, Proby CM, Harwood CA, Leigh IM. South AP, et al. J Invest Dermatol. 2014 Oct;134(10):2630-2638. doi: 10.1038/jid.2014.154. Epub 2014 Mar 24. J Invest Dermatol. 2014. PMID: 24662767 Free PMC article.
CREBBP mutation in human cutaneous squamous cell carcinoma.
Watt SA, Purdie KJ, den Breems NY, Dimon M, Tucker S, Arron ST, McHugh A, Xue DJ, Dayal JH, Harwood CA, Leigh IM, Proby CM, South AP. Watt SA, et al. Among authors: south ap. Exp Dermatol. 2016 Aug;25(8):650-1. doi: 10.1111/exd.13044. Epub 2016 Jun 30. Exp Dermatol. 2016. PMID: 27094574 No abstract available.
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression.
Pourreyron C, Cox G, Mao X, Volz A, Baksh N, Wong T, Fassihi H, Arita K, O'Toole EA, Ocampo-Candiani J, Chen M, Hart IR, Bruckner-Tuderman L, Salas-Alanis JC, McGrath JA, Leigh IM, South AP. Pourreyron C, et al. Among authors: south ap. J Invest Dermatol. 2007 Oct;127(10):2438-44. doi: 10.1038/sj.jid.5700878. Epub 2007 May 10. J Invest Dermatol. 2007. PMID: 17495952 Free article.
Preclinical comparison of proteasome and ubiquitin E1 enzyme inhibitors in cutaneous squamous cell carcinoma: the identification of mechanisms of differential sensitivity.
McHugh A, Fernandes K, South AP, Mellerio JE, Salas-Alanís JC, Proby CM, Leigh IM, Saville MK. McHugh A, et al. Among authors: south ap. Oncotarget. 2018 Apr 17;9(29):20265-20281. doi: 10.18632/oncotarget.24750. eCollection 2018 Apr 17. Oncotarget. 2018. PMID: 29755650 Free PMC article.
136 results