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Page 1
IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis.
Hussain S, Berki DM, Choon SE, Burden AD, Allen MH, Arostegui JI, Chaves A, Duckworth M, Irvine AD, Mockenhaupt M, Navarini AA, Seyger MMB, Soler-Palacin P, Prins C, Valeyrie-Allanore L, Vicente MA, Trembath RC, Smith CH, Barker JN, Capon F. Hussain S, et al. Among authors: mockenhaupt m. J Allergy Clin Immunol. 2015 Apr;135(4):1067-1070.e9. doi: 10.1016/j.jaci.2014.09.043. Epub 2014 Nov 12. J Allergy Clin Immunol. 2015. PMID: 25458002 No abstract available.
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: mockenhaupt m. 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.
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: mockenhaupt m. 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.
AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production.
Mahil SK, Twelves S, Farkas K, Setta-Kaffetzi N, Burden AD, Gach JE, Irvine AD, Képíró L, Mockenhaupt M, Oon HH, Pinner J, Ranki A, Seyger MMB, Soler-Palacin P, Storan ER, Tan ES, Valeyrie-Allanore L, Young HS, Trembath RC, Choon SE, Szell M, Bata-Csorgo Z, Smith CH, Di Meglio P, Barker JN, Capon F. Mahil SK, et al. Among authors: mockenhaupt m. J Invest Dermatol. 2016 Nov;136(11):2251-2259. doi: 10.1016/j.jid.2016.06.618. Epub 2016 Jul 5. J Invest Dermatol. 2016. PMID: 27388993 Free PMC article.
HLA-B*57:01 confers genetic susceptibility to carbamazepine-induced SJS/TEN in Europeans.
Mockenhaupt M, Wang CW, Hung SI, Sekula P, Schmidt AH, Pan RY, Chen CB, Dunant A, Gouvello SL, Schumacher M, Valeyrie-Allanore L, Bellon T, Kardaun SH, Jan YS, Chung WH, Roujeau JC; RegiSCAR group. Mockenhaupt M, et al. Allergy. 2019 Nov;74(11):2227-2230. doi: 10.1111/all.13821. Epub 2019 May 28. Allergy. 2019. PMID: 30972788 No abstract available.
Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease.
Vergnano M, Mockenhaupt M, Benzian-Olsson N, Paulmann M, Grys K, Mahil SK, Chaloner C, Barbosa IA, August S, Burden AD, Choon SE, Cooper H, Navarini AA, Reynolds NJ, Wahie S, Warren RB, Wright A; APRICOT and PLUM study team; Huffmeier U, Baum P, Visvanathan S, Barker JN, Smith CH, Capon F. Vergnano M, et al. Among authors: mockenhaupt m. Am J Hum Genet. 2020 Sep 3;107(3):539-543. doi: 10.1016/j.ajhg.2020.06.020. Epub 2020 Aug 5. Am J Hum Genet. 2020. PMID: 32758448 Free PMC article.
Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease.
Vergnano M, Mockenhaupt M, Benzian-Olsson N, Paulmann M, Grys K, Mahil SK, Chaloner C, Barbosa IA, August S, Burden AD, Choon SE, Cooper H, Navarini AA, Reynolds NJ, Wahie S, Warren RB, Wright A; APRICOT and PLUM study team; Huffmeier U, Baum P, Visvanathan S, Barker JN, Smith CH, Capon F. Vergnano M, et al. Among authors: mockenhaupt m. Am J Hum Genet. 2021 Apr 1;108(4):757. doi: 10.1016/j.ajhg.2021.03.001. Am J Hum Genet. 2021. PMID: 33798446 Free PMC article. No abstract available.
Death ligand TRAIL, secreted by CD1a+ and CD14+ cells in blister fluids, is involved in killing keratinocytes in toxic epidermal necrolysis.
de Araujo E, Dessirier V, Laprée G, Valeyrie-Allanore L, Ortonne N, Stathopoulos EN, Bagot M, Bensussan A, Mockenhaupt M, Roujeau JC, Tsapis A. de Araujo E, et al. Among authors: mockenhaupt m. Exp Dermatol. 2011 Feb;20(2):107-12. doi: 10.1111/j.1600-0625.2010.01176.x. Exp Dermatol. 2011. PMID: 21255088 Free article.
135 results