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Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes.
Setta-Kaffetzi N, Navarini AA, Patel VM, Pullabhatla V, Pink AE, Choon SE, Allen MA, Burden AD, Griffiths CE, Seyger MM, Kirby B, Trembath RC, Simpson MA, Smith CH, Capon F, Barker JN. Setta-Kaffetzi N, et al. Among authors: simpson ma. J Invest Dermatol. 2013 May;133(5):1366-9. doi: 10.1038/jid.2012.490. Epub 2013 Jan 10. J Invest Dermatol. 2013. PMID: 23303454 Free article. No abstract available.
PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa).
Pink AE, Simpson MA, Brice GW, Smith CH, Desai N, Mortimer PS, Barker JN, Trembath RC. Pink AE, et al. Among authors: simpson ma. J Invest Dermatol. 2011 Jul;131(7):1568-70. doi: 10.1038/jid.2011.42. Epub 2011 Mar 17. J Invest Dermatol. 2011. PMID: 21412258 Free article. No abstract available.
Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.
Onoufriadis A, Simpson MA, Pink AE, Di Meglio P, Smith CH, Pullabhatla V, Knight J, Spain SL, Nestle FO, Burden AD, Capon F, Trembath RC, Barker JN. Onoufriadis A, et al. Among authors: simpson ma. Am J Hum Genet. 2011 Sep 9;89(3):432-7. doi: 10.1016/j.ajhg.2011.07.022. Epub 2011 Aug 11. Am J Hum Genet. 2011. PMID: 21839423 Free PMC article.
Rare variations in IL36RN in severe adverse drug reactions manifesting as acute generalized exanthematous pustulosis.
Navarini AA, Valeyrie-Allanore L, Setta-Kaffetzi N, Barker JN, Capon F, Creamer D, Roujeau JC, Sekula P, Simpson MA, Trembath RC, Mockenhaupt M, Smith CH. Navarini AA, et al. Among authors: simpson ma. J Invest Dermatol. 2013 Jul;133(7):1904-7. doi: 10.1038/jid.2013.44. Epub 2013 Jan 28. J Invest Dermatol. 2013. PMID: 23358093 Free article. No abstract available.
Negligible impact of rare autoimmune-locus coding-region variants on missing heritability.
Hunt KA, Mistry V, Bockett NA, Ahmad T, Ban M, Barker JN, Barrett JC, Blackburn H, Brand O, Burren O, Capon F, Compston A, Gough SC, Jostins L, Kong Y, Lee JC, Lek M, MacArthur DG, Mansfield JC, Mathew CG, Mein CA, Mirza M, Nutland S, Onengut-Gumuscu S, Papouli E, Parkes M, Rich SS, Sawcer S, Satsangi J, Simmonds MJ, Trembath RC, Walker NM, Wozniak E, Todd JA, Simpson MA, Plagnol V, van Heel DA. Hunt KA, et al. Among authors: simpson ma. Nature. 2013 Jun 13;498(7453):232-5. doi: 10.1038/nature12170. Epub 2013 May 22. Nature. 2013. PMID: 23698362 Free PMC article.
Generalized pustular eruptions: time to adapt the disease taxonomy to the genetic architecture?
Navarini AA, Valeyrie-Allanore L, Setta-Kaffetzi N, Barker JN, Capon F, Creamer D, Roujeau JC, Sekula P, Simpson MA, Trembath RC, Mockenhaupt M, Smith CH. Navarini AA, et al. Among authors: simpson ma. J Invest Dermatol. 2014 Feb;134(2):580-581. doi: 10.1038/jid.2013.349. Epub 2013 Aug 16. J Invest Dermatol. 2014. PMID: 23955072 Free article. No abstract available.
An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element.
Clop A, Bertoni A, Spain SL, Simpson MA, Pullabhatla V, Tonda R, Hundhausen C, Di Meglio P, De Jong P, Hayday AC, Nestle FO, Barker JN, Bell RJ, Capon F, Trembath RC. Clop A, et al. Among authors: simpson ma. PLoS One. 2013 Aug 19;8(8):e71690. doi: 10.1371/journal.pone.0071690. eCollection 2013. PLoS One. 2013. PMID: 23990973 Free PMC article.
396 results