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Replication and meta-analyses nominate numerous eosinophilic esophagitis risk genes.
Kottyan LC, Trimarchi MP, Lu X, Caldwell JM, Maddox A, Parameswaran S, Lape M, D'Mello RJ, Bonfield M, Ballaban A, Mukkada V, Putnam PE, Abonia P, Ben-Baruch Morgenstern N, Eapen AA, Wen T, Weirauch MT, Rothenberg ME. Kottyan LC, et al. Among authors: lu x. J Allergy Clin Immunol. 2021 Jan;147(1):255-266. doi: 10.1016/j.jaci.2020.10.018. Epub 2020 Oct 23. J Allergy Clin Immunol. 2021. PMID: 33446330 Free PMC article.
The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share.
Kottyan LC, Zoller EE, Bene J, Lu X, Kelly JA, Rupert AM, Lessard CJ, Vaughn SE, Marion M, Weirauch MT, Namjou B, Adler A, Rasmussen A, Glenn S, Montgomery CG, Hirschfield GM, Xie G, Coltescu C, Amos C, Li H, Ice JA, Nath SK, Mariette X, Bowman S; UK Primary Sjögren's Syndrome Registry; Rischmueller M, Lester S, Brun JG, Gøransson LG, Harboe E, Omdal R, Cunninghame-Graham DS, Vyse T, Miceli-Richard C, Brennan MT, Lessard JA, Wahren-Herlenius M, Kvarnström M, Illei GG, Witte T, Jonsson R, Eriksson P, Nordmark G, Ng WF; UK Primary Sjögren's Syndrome Registry; Anaya JM, Rhodus NL, Segal BM, Merrill JT, James JA, Guthridge JM, Scofield RH, Alarcon-Riquelme M, Bae SC, Boackle SA, Criswell LA, Gilkeson G, Kamen DL, Jacob CO, Kimberly R, Brown E, Edberg J, Alarcón GS, Reveille JD, Vilá LM, Petri M, Ramsey-Goldman R, Freedman BI, Niewold T, Stevens AM, Tsao BP, Ying J, Mayes MD, Gorlova OY, Wakeland W, Radstake T, Martin E, Martin J, Siminovitch K, Moser Sivils KL, Gaffney PM, Langefeld CD, Harley JB, Kaufman KM. Kottyan LC, et al. Among authors: lu x. Hum Mol Genet. 2015 Jan 15;24(2):582-96. doi: 10.1093/hmg/ddu455. Epub 2014 Sep 8. Hum Mol Genet. 2015. PMID: 25205108 Free PMC article.
Lupus risk variants in the PXK locus alter B-cell receptor internalization.
Vaughn SE, Foley C, Lu X, Patel ZH, Zoller EE, Magnusen AF, Williams AH, Ziegler JT, Comeau ME, Marion MC, Glenn SB, Adler A, Shen N, Nath S, Stevens AM, Freedman BI, Tsao BP, Jacob CO, Kamen DL, Brown EE, Gilkeson GS, Alarcón GS, Reveille JD, Anaya JM, James JA, Moser KL, Criswell LA, Vilá LM, Alarcón-Riquelme ME, Petri M, Scofield RH, Kimberly RP, Ramsey-Goldman R, Binjoo Y, Choi J, Bae SC, Boackle SA, Vyse TJ, Guthridge JM, Namjou B, Gaffney PM, Langefeld CD, Kaufman KM, Kelly JA, Harley IT, Harley JB, Kottyan LC. Vaughn SE, et al. Among authors: lu x. Front Genet. 2015 Jan 8;5:450. doi: 10.3389/fgene.2014.00450. eCollection 2014. Front Genet. 2015. PMID: 25620976 Free PMC article.
Lupus Risk Variant Increases pSTAT1 Binding and Decreases ETS1 Expression.
Lu X, Zoller EE, Weirauch MT, Wu Z, Namjou B, Williams AH, Ziegler JT, Comeau ME, Marion MC, Glenn SB, Adler A, Shen N, Nath SK, Stevens AM, Freedman BI, Tsao BP, Jacob CO, Kamen DL, Brown EE, Gilkeson GS, Alarcón GS, Reveille JD, Anaya JM, James JA, Sivils KL, Criswell LA, Vilá LM, Alarcón-Riquelme ME, Petri M, Scofield RH, Kimberly RP, Ramsey-Goldman R, Joo YB, Choi J, Bae SC, Boackle SA, Graham DC, Vyse TJ, Guthridge JM, Gaffney PM, Langefeld CD, Kelly JA, Greis KD, Kaufman KM, Harley JB, Kottyan LC. Lu X, et al. Am J Hum Genet. 2015 May 7;96(5):731-9. doi: 10.1016/j.ajhg.2015.03.002. Epub 2015 Apr 9. Am J Hum Genet. 2015. PMID: 25865496 Free PMC article.
A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus.
Patel ZH, Lu X, Miller D, Forney CR, Lee J, Lynch A, Schroeder C, Parks L, Magnusen AF, Chen X, Pujato M, Maddox A, Zoller EE, Namjou B, Brunner HI, Henrickson M, Huggins JL, Williams AH, Ziegler JT, Comeau ME, Marion MC, Glenn SB, Adler A, Shen N, Nath SK, Stevens AM, Freedman BI, Pons-Estel BA, Tsao BP, Jacob CO, Kamen DL, Brown EE, Gilkeson GS, Alarcón GS, Martin J, Reveille JD, Anaya JM, James JA, Sivils KL, Criswell LA, Vilá LM, Petri M, Scofield RH, Kimberly RP, Edberg JC, Ramsey-Goldman R, Bang SY, Lee HS, Bae SC, Boackle SA, Cunninghame Graham D, Vyse TJ, Merrill JT, Niewold TB, Ainsworth HC, Silverman ED, Weisman MH, Wallace DJ, Raj P, Guthridge JM, Gaffney PM, Kelly JA, Alarcón-Riquelme ME, Langefeld CD, Wakeland EK, Kaufman KM, Weirauch MT, Harley JB, Kottyan LC. Patel ZH, et al. Among authors: lu x. Hum Mol Genet. 2018 Jul 1;27(13):2392-2404. doi: 10.1093/hmg/ddy140. Hum Mol Genet. 2018. PMID: 29912393 Free PMC article. Clinical Trial.
Genetic, Inflammatory, and Epithelial Cell Differentiation Factors Control Expression of Human Calpain-14.
Miller DE, Forney C, Rochman M, Cranert S, Habel J, Rymer J, Lynch A, Schroeder C, Lee J, Sauder A, Smith Q, Chawla M, Trimarchi MP, Lu X, Fjellman E, Brusilovsky M, Barski A, Waggoner S, Weirauch MT, Rothenberg ME, Kottyan LC. Miller DE, et al. Among authors: lu x. G3 (Bethesda). 2019 Mar 7;9(3):729-736. doi: 10.1534/g3.118.200901. G3 (Bethesda). 2019. PMID: 30626591 Free PMC article.
SLE non-coding genetic risk variant determines the epigenetic dysfunction of an immune cell specific enhancer that controls disease-critical microRNA expression.
Hou G, Harley ITW, Lu X, Zhou T, Xu N, Yao C, Qin Y, Ouyang Y, Ma J, Zhu X, Yu X, Xu H, Dai D, Ding H, Yin Z, Ye Z, Deng J, Zhou M, Tang Y, Namjou B, Guo Y, Weirauch MT, Kottyan LC, Harley JB, Shen N. Hou G, et al. Among authors: lu x. Nat Commun. 2021 Jan 8;12(1):135. doi: 10.1038/s41467-020-20460-1. Nat Commun. 2021. PMID: 33420081 Free PMC article.
Global discovery of lupus genetic risk variant allelic enhancer activity.
Lu X, Chen X, Forney C, Donmez O, Miller D, Parameswaran S, Hong T, Huang Y, Pujato M, Cazares T, Miraldi ER, Ray JP, de Boer CG, Harley JB, Weirauch MT, Kottyan LC. Lu X, et al. Nat Commun. 2021 Mar 12;12(1):1611. doi: 10.1038/s41467-021-21854-5. Nat Commun. 2021. PMID: 33712590 Free PMC article.
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