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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: ho mhk. 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.
Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease.
Chiu TL, Leung D, Chan KW, Yeung HM, Wong CY, Mao H, He J, Vignesh P, Liang W, Liew WK, Jiang LP, Chen TX, Chen XY, Tao YB, Xu YB, Yu HH, Terblanche A, Lung DC, Li CR, Chen J, Tian M, Eley B, Yang X, Yang J, Chiang WC, Lee BW, Suri D, Rawat A, Gupta A, Singh S, Wong WHS, Chua GT, Duque JSDR, Cheong KN, Chong PC, Ho MH, Lee TL, Yang W, Lee PP, Lau YL. Chiu TL, et al. Front Immunol. 2022 Jan 24;12:803763. doi: 10.3389/fimmu.2021.803763. eCollection 2021. Front Immunol. 2022. PMID: 35140711 Free PMC article.
Three SNPs in chromosome 11q23.3 are independently associated with systemic lupus erythematosus in Asians.
Zhang J, Zhang Y, Yang J, Zhang L, Sun L, Pan HF, Hirankarn N, Ying D, Zeng S, Lee TL, Lau CS, Chan TM, Leung AM, Mok CC, Wong SN, Lee KW, Ho MH, Lee PP, Chung BH, Chong CY, Wong RW, Mok MY, Wong WH, Tong KL, Tse NK, Li XP, Avihingsanon Y, Rianthavorn P, Deekajorndej T, Suphapeetiporn K, Shotelersuk V, Ying SK, Fung SK, Lai WM, Garcia-Barceló MM, Cherny SS, Tam PK, Cui Y, Sham PC, Yang S, Ye DQ, Zhang XJ, Lau YL, Yang W. Zhang J, et al. Hum Mol Genet. 2014 Jan 15;23(2):524-33. doi: 10.1093/hmg/ddt424. Epub 2013 Sep 2. Hum Mol Genet. 2014. PMID: 24001599
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. 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
Meta-analysis of GWAS on two Chinese populations followed by replication identifies novel genetic variants on the X chromosome associated with systemic lupus erythematosus.
Zhang Y, Zhang J, Yang J, Wang Y, Zhang L, Zuo X, Sun L, Pan HF, Hirankarn N, Wang T, Chen R, Ying D, Zeng S, Shen JJ, Lee TL, Lau CS, Chan TM, Leung AM, Mok CC, Wong SN, Lee KW, Ho MH, Lee PP, Chung BH, Chong CY, Wong RW, Mok MY, Wong WH, Tong KL, Tse NK, Li XP, Avihingsanon Y, Rianthavorn P, Deekajorndej T, Suphapeetiporn K, Shotelersuk V, Ying SK, Fung SK, Lai WM, Wong CM, Ng IO, Garcia-Barcelo MM, Cherny SS, Tam PK, Sham PC, Yang S, Ye DQ, Cui Y, Zhang XJ, Lau YL, Yang W. Zhang Y, et al. Hum Mol Genet. 2015 Jan 1;24(1):274-84. doi: 10.1093/hmg/ddu429. Epub 2014 Aug 22. Hum Mol Genet. 2015. PMID: 25149475
Genome-wide search followed by replication reveals genetic interaction of CD80 and ALOX5AP associated with systemic lupus erythematosus in Asian populations.
Zhang Y, Yang J, Zhang J, Sun L, Hirankarn N, Pan HF, Lau CS, Chan TM, Lee TL, Leung AM, Mok CC, Zhang L, Wang Y, Shen JJ, Wong SN, Lee KW, Ho MH, Lee PP, Chung BH, Chong CY, Wong RW, Mok MY, Wong WH, Tong KL, Tse NK, Li XP, Avihingsanon Y, Rianthavorn P, Deekajorndej T, Suphapeetiporn K, Shotelersuk V, Ying SK, Fung SK, Lai WM, Wong CM, Ng IO, Garcia-Barcelo MM, Cherny SS, Cui Y, Sham PC, Yang S, Ye DQ, Zhang XJ, Lau YL, Yang W. Zhang Y, et al. Ann Rheum Dis. 2016 May;75(5):891-8. doi: 10.1136/annrheumdis-2014-206367. Epub 2015 Apr 10. Ann Rheum Dis. 2016. PMID: 25862617
82 results