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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: yang w, yang x, yang j. 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.
NF-E2 mutation as a novel cause for inherited thrombocytopenia.
Luk ADW, Yang X, Alcasabas AP, Hao RC, Chan KW, Lee PP, Yang J, Chan GC, So JC, Yang W, Lau YL. Luk ADW, et al. Among authors: yang w, yang x, yang j. Br J Haematol. 2020 Apr;189(2):e41-e44. doi: 10.1111/bjh.16438. Epub 2020 Jan 17. Br J Haematol. 2020. PMID: 31951293 Free PMC article. No abstract available.
Excessive deubiquitination of NLRP3-R779C variant contributes to very-early-onset inflammatory bowel disease development.
Zhou L, Liu T, Huang B, Luo M, Chen Z, Zhao Z, Wang J, Leung D, Yang X, Chan KW, Liu Y, Xiong L, Chen P, Wang H, Ye L, Liang H, Masters SL, Lew AM, Gong S, Bai F, Yang J, Pui-Wah Lee P, Yang W, Zhang Y, Lau YL, Geng L, Zhang Y, Cui J. Zhou L, et al. Among authors: yang w, yang x, yang j. J Allergy Clin Immunol. 2021 Jan;147(1):267-279. doi: 10.1016/j.jaci.2020.09.003. Epub 2020 Sep 15. J Allergy Clin Immunol. 2021. PMID: 32941940 Clinical Trial.
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. Among authors: yang w, yang x, yang j. Front Immunol. 2022 Jan 24;12:803763. doi: 10.3389/fimmu.2021.803763. eCollection 2021. Front Immunol. 2022. PMID: 35140711 Free PMC article.
Transcriptomic Features of systemic lupus erythematosus Patients in Flare and Changes during Acute In-Hospital Treatment.
Liu Z, Shao L, Hou F, Li W, Wang YF, Feng H, Wang FQ, Lei Y, Zheng L, Liang R, Li J, Guo X, Zhang L, Zhang Y, Yang J, Qin X, Wei W, Yang X, Dang X, Ma W, She CH, Kong Q, Yang J, Ban B, Lau YL, Song Q, Yang W. Liu Z, et al. Among authors: yang w, yang x, yang j. Rheumatology (Oxford). 2023 Dec 23:kead704. doi: 10.1093/rheumatology/kead704. Online ahead of print. Rheumatology (Oxford). 2023. PMID: 38141203
Unraveling transcriptomic signatures and dysregulated pathways in systemic lupus erythematosus across disease states.
Wang FQ, Shao L, Dang X, Wang YF, Chen S, Liu Z, Mao Y, Jiang Y, Hou F, Guo X, Li J, Zhang L, Sang Y, Zhao X, Ma R, Zhang K, Zhang Y, Yang J, Wen X, Liu J, Wei W, Zhang C, Li W, Qin X, Lei Y, Feng H, Yang X, She CH, Zhang C, Su H, Chen X, Yang J, Lau YL, Wu Q, Ban B, Song Q, Yang W. Wang FQ, et al. Among authors: yang w, yang x, yang j. Arthritis Res Ther. 2024 May 13;26(1):99. doi: 10.1186/s13075-024-03327-4. Arthritis Res Ther. 2024. PMID: 38741185 Free PMC article.
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW, Wong CY, Leung D, Yang X, Fok SFS, Mak PHS, Yao L, Ma W, Mao H, Zhao X, Liang W, Singh S, Barbouche MR, He JX, Jiang LP, Liew WK, Le MHT, Muktiarti D, Santos-Ocampo FJ, Djidjik R, Belaid B, Ismail IH, Abdul Latiff AH, Lee WS, Chen TX, Liu J, Jin R, Wang X, Chien YH, Yu HH, Raj D, Raj R, Vaughan J, Urban M, van den Berg S, Eley B, Lee AC, Isa MS, Ang EY, Lee BW, Yeoh AEJ, Shek LP, Quynh Le NN, Nguyen VAT, Phan Nguyen Lien A, Capulong RD, Mallillin JM, Villanueva JCMM, Camonayan KAB, Vera M, Casis-Hao RJ, Lobo RCM, Foronda R, Binas VWE, Boushaki S, Kechout N, Phongsamart G, Wongwaree S, Jiratchaya C, Lao-Araya M, Trakultivakorn M, Suratannon N, Jirapongsananuruk O, Chantveerawong T, Kamchaisatian W, Chan LL, Koh MT, Wong KJ, Fong SM, Thong MK, Latiff ZA, Noh LM, de Silva R, Jouhadi Z, Al-Saad K, Vignesh P, Jindal AK, Rawat A, Gupta A, Suri D, Yang J, Au EY, Kwok JS, Chan SY, Hui WY, Chua GT, Duque JR, Cheong KN, Chong PCY, Ho MHK, Lee TL, Wong WH, Yang W, Lee PP, Tu W, Yang XQ, Lau YL. Chan KW, et al. Among authors: yang w, yang x, yang xq, yang j. Front Immunol. 2022 Jul 8;13:883446. doi: 10.3389/fimmu.2022.883446. eCollection 2022. Front Immunol. 2022. PMID: 35874699 Free PMC article.
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