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AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.
Setta-Kaffetzi N, Simpson MA, Navarini AA, Patel VM, Lu HC, Allen MH, Duckworth M, Bachelez H, Burden AD, Choon SE, Griffiths CE, Kirby B, Kolios A, Seyger MM, Prins C, Smahi A, Trembath RC, Fraternali F, Smith CH, Barker JN, Capon F. Setta-Kaffetzi N, et al. Among authors: fraternali f. Am J Hum Genet. 2014 May 1;94(5):790-7. doi: 10.1016/j.ajhg.2014.04.005. Am J Hum Genet. 2014. PMID: 24791904 Free PMC article.
Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations.
Onoufriadis A, Cabezas A, Ng JCF, Canales J, Costas MJ, Ribeiro JM, Rodrigues JR, McAleer MA, Castelo-Soccio L, Simpson MA, Fraternali F, Irvine AD, Cameselle JC, McGrath JA. Onoufriadis A, et al. Among authors: fraternali f. Br J Dermatol. 2021 May;184(5):935-943. doi: 10.1111/bjd.19481. Epub 2020 Nov 2. Br J Dermatol. 2021. PMID: 32790068
Mutation of the RAD51C gene in a Fanconi anemia-like disorder.
Vaz F, Hanenberg H, Schuster B, Barker K, Wiek C, Erven V, Neveling K, Endt D, Kesterton I, Autore F, Fraternali F, Freund M, Hartmann L, Grimwade D, Roberts RG, Schaal H, Mohammed S, Rahman N, Schindler D, Mathew CG. Vaz F, et al. Among authors: fraternali f. Nat Genet. 2010 May;42(5):406-9. doi: 10.1038/ng.570. Epub 2010 Apr 18. Nat Genet. 2010. PMID: 20400963
162 results