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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: sharma aa. 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.
Mechanistic understanding of the combined immunodeficiency in complete human CARD11 deficiency.
Lu HY, Sharma M, Sharma AA, Lacson A, Szpurko A, Luider J, Dharmani-Khan P, Shameli A, Bell PA, Guilcher GMT, Lewis VA, Vasquez MR, Desai S, McGonigle L, Murguia-Favela L, Wright NAM, Sergi C, Wine E, Overall CM, Suresh S, Turvey SE. Lu HY, et al. Among authors: sharma m, sharma aa. J Allergy Clin Immunol. 2021 Dec;148(6):1559-1574.e13. doi: 10.1016/j.jaci.2021.04.006. Epub 2021 Apr 17. J Allergy Clin Immunol. 2021. PMID: 33872653
Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.
Sharma M, Fu MP, Lu HY, Sharma AA, Modi BP, Michalski C, Lin S, Dalmann J, Salman A, Del Bel KL, Waqas M, Terry J, Setiadi A, Lavoie PM, Wasserman WW, Mwenifumbo J, Kobor MS, Lee AF, Kuchenbauer F, Lehman A, Cheng S, Cooper A, Patel MS, Turvey SE. Sharma M, et al. Among authors: sharma aa. Blood. 2022 Oct 27;140(17):1858-1874. doi: 10.1182/blood.2022015674. Blood. 2022. PMID: 35789258 Free article.
DDIT4L regulates mitochondrial and innate immune activities in early life.
Michalski C, Cheung C, Oh JH, Ackermann E, Popescu CR, Archambault AS, Prusinkiewicz MA, Da Silva R, Majdoubi A, Viñeta Paramo M, Xu RY, Reicherz F, Patterson AE, Golding L, Sharma AA, Lim CJ, Orban PC, Klein Geltink RI, Lavoie PM. Michalski C, et al. Among authors: sharma aa. JCI Insight. 2024 Feb 6;9(5):e172312. doi: 10.1172/jci.insight.172312. JCI Insight. 2024. PMID: 38319716 Free PMC article.
77 results