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Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.
Sharma M, Leung D, Momenilandi M, Jones LCW, Pacillo L, James AE, Murrell JR, Delafontaine S, Maimaris J, Vaseghi-Shanjani M, Del Bel KL, Lu HY, Chua GT, Di Cesare S, Fornes O, Liu Z, Di Matteo G, Fu MP, Amodio D, Tam IYS, Chan GSW, Sharma AA, Dalmann J, van der Lee R, Blanchard-Rohner G, Lin S, Philippot Q, Richmond PA, Lee JJ, Matthews A, Seear M, Turvey AK, Philips RL, Brown-Whitehorn TF, Gray CJ, Izumi K, Treat JR, Wood KH, Lack J, Khleborodova A, Niemela JE, Yang X, Liang R, Kui L, Wong CSM, Poon GWK, Hoischen A, van der Made CI, Yang J, Chan KW, Rosa Duque JSD, Lee PPW, Ho MHK, Chung BHY, Le HTM, Yang W, Rohani P, Fouladvand A, Rokni-Zadeh H, Changi-Ashtiani M, Miryounesi M, Puel A, Shahrooei M, Finocchi A, Rossi P, Rivalta B, Cifaldi C, Novelli A, Passarelli C, Arasi S, Bullens D, Sauer K, Claeys T, Biggs CM, Morris EC, Rosenzweig SD, O'Shea JJ, Wasserman WW, Bedford HM, van Karnebeek CDM, Palma P, Burns SO, Meyts I, Casanova JL, Lyons JJ, Parvaneh N, Nguyen ATV, Cancrini C, Heimall J, Ahmed H, McKinnon ML, Lau YL, Béziat V, Turvey SE. Sharma M, et al. Among authors: lau yl. J Exp Med. 2023 May 1;220(5):e20221755. doi: 10.1084/jem.20221755. Epub 2023 Mar 8. J Exp Med. 2023. PMID: 36884218 Free PMC article.
Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake.
Willcocks LC, Lyons PA, Clatworthy MR, Robinson JI, Yang W, Newland SA, Plagnol V, McGovern NN, Condliffe AM, Chilvers ER, Adu D, Jolly EC, Watts R, Lau YL, Morgan AW, Nash G, Smith KG. Willcocks LC, et al. Among authors: lau yl. J Exp Med. 2008 Jul 7;205(7):1573-82. doi: 10.1084/jem.20072413. Epub 2008 Jun 16. J Exp Med. 2008. PMID: 18559452 Free PMC article.
ITGAM is associated with disease susceptibility and renal nephritis of systemic lupus erythematosus in Hong Kong Chinese and Thai.
Yang W, Zhao M, Hirankarn N, Lau CS, Mok CC, Chan TM, Wong RW, Lee KW, Mok MY, Wong SN, Avihingsanon Y, Lin IO, Lee TL, Ho MH, Lee PP, Wong WH, Sham PC, Lau YL. Yang W, et al. Among authors: lau cs, lau yl. Hum Mol Genet. 2009 Jun 1;18(11):2063-70. doi: 10.1093/hmg/ddp118. Epub 2009 Mar 13. Hum Mol Genet. 2009. PMID: 19286673 Free PMC article.
ELF1 is associated with systemic lupus erythematosus in Asian populations.
Yang J, Yang W, Hirankarn N, Ye DQ, Zhang Y, Pan HF, Mok CC, Chan TM, Wong RW, Mok MY, Lee KW, Wong SN, Leung AM, Li XP, Avihingsanon Y, Rianthavorn P, Deekajorndej T, Suphapeetiporn K, Shotelersuk V, Baum L, Kwan P, Lee TL, Ho MH, Lee PP, Wong WH, Zeng S, Zhang J, Wong CM, Ng IO, Garcia-Barceló MM, Cherny SS, Tam PK, Sham PC, Lau CS, Lau YL. Yang J, et al. Among authors: lau cs, lau yl. Hum Mol Genet. 2011 Feb 1;20(3):601-7. doi: 10.1093/hmg/ddq474. Epub 2010 Nov 2. Hum Mol Genet. 2011. PMID: 21044949
799 results