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Page 1
The Genetic Basis of Vitiligo.
Spritz RA, Santorico SA. Spritz RA, et al. Among authors: santorico sa. J Invest Dermatol. 2021 Feb;141(2):265-273. doi: 10.1016/j.jid.2020.06.004. Epub 2020 Aug 8. J Invest Dermatol. 2021. PMID: 32778407 Free article. Review.
Autoimmune vitiligo is associated with gain-of-function by a transcriptional regulator that elevates expression of HLA-A*02:01 in vivo.
Hayashi M, Jin Y, Yorgov D, Santorico SA, Hagman J, Ferrara TM, Jones KL, Cavalli G, Dinarello CA, Spritz RA. Hayashi M, et al. Among authors: santorico sa. Proc Natl Acad Sci U S A. 2016 Feb 2;113(5):1357-62. doi: 10.1073/pnas.1525001113. Epub 2016 Jan 19. Proc Natl Acad Sci U S A. 2016. PMID: 26787886 Free PMC article.
MHC class II super-enhancer increases surface expression of HLA-DR and HLA-DQ and affects cytokine production in autoimmune vitiligo.
Cavalli G, Hayashi M, Jin Y, Yorgov D, Santorico SA, Holcomb C, Rastrou M, Erlich H, Tengesdal IW, Dagna L, Neff CP, Palmer BE, Spritz RA, Dinarello CA. Cavalli G, et al. Among authors: santorico sa. Proc Natl Acad Sci U S A. 2016 Feb 2;113(5):1363-8. doi: 10.1073/pnas.1523482113. Epub 2016 Jan 19. Proc Natl Acad Sci U S A. 2016. PMID: 26787888 Free PMC article.
Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.
Jin Y, Andersen G, Yorgov D, Ferrara TM, Ben S, Brownson KM, Holland PJ, Birlea SA, Siebert J, Hartmann A, Lienert A, van Geel N, Lambert J, Luiten RM, Wolkerstorfer A, Wietze van der Veen JP, Bennett DC, Taïeb A, Ezzedine K, Kemp EH, Gawkrodger DJ, Weetman AP, Kõks S, Prans E, Kingo K, Karelson M, Wallace MR, McCormack WT, Overbeck A, Moretti S, Colucci R, Picardo M, Silverberg NB, Olsson M, Valle Y, Korobko I, Böhm M, Lim HW, Hamzavi I, Zhou L, Mi QS, Fain PR, Santorico SA, Spritz RA. Jin Y, et al. Among authors: santorico sa. Nat Genet. 2016 Nov;48(11):1418-1424. doi: 10.1038/ng.3680. Epub 2016 Oct 10. Nat Genet. 2016. PMID: 27723757 Free PMC article.
Genome-Wide Association of PVT1 with Vitiligo.
Ben S, Jin Y, Santorico SA, Spritz RA. Ben S, et al. Among authors: santorico sa. J Invest Dermatol. 2018 Aug;138(8):1884-1886. doi: 10.1016/j.jid.2018.02.025. Epub 2018 Mar 2. J Invest Dermatol. 2018. PMID: 29505758 Free article. No abstract available.
Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk.
Pouget JG; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Han B, Wu Y, Mignot E, Ollila HM, Barker J, Spain S, Dand N, Trembath R, Martin J, Mayes MD, Bossini-Castillo L, López-Isac E, Jin Y, Santorico SA, Spritz RA, Hakonarson H, Polychronakos C, Raychaudhuri S, Knight J. Pouget JG, et al. Among authors: santorico sa. Hum Mol Genet. 2019 Oct 15;28(20):3498-3513. doi: 10.1093/hmg/ddz145. Hum Mol Genet. 2019. PMID: 31211845 Free PMC article.
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