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A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma.
Smith D, Helgason H, Sulem P, Bjornsdottir US, Lim AC, Sveinbjornsson G, Hasegawa H, Brown M, Ketchem RR, Gavala M, Garrett L, Jonasdottir A, Jonasdottir A, Sigurdsson A, Magnusson OT, Eyjolfsson GI, Olafsson I, Onundarson PT, Sigurdardottir O, Gislason D, Gislason T, Ludviksson BR, Ludviksdottir D, Boezen HM, Heinzmann A, Krueger M, Porsbjerg C, Ahluwalia TS, Waage J, Backer V, Deichmann KA, Koppelman GH, Bønnelykke K, Bisgaard H, Masson G, Thorsteinsdottir U, Gudbjartsson DF, Johnston JA, Jonsdottir I, Stefansson K. Smith D, et al. Among authors: lim ac. PLoS Genet. 2017 Mar 8;13(3):e1006659. doi: 10.1371/journal.pgen.1006659. eCollection 2017 Mar. PLoS Genet. 2017. PMID: 28273074 Free PMC article.
Molecular basis for the loss-of-function effects of the Alzheimer's disease-associated R47H variant of the immune receptor TREM2.
Sudom A, Talreja S, Danao J, Bragg E, Kegel R, Min X, Richardson J, Zhang Z, Sharkov N, Marcora E, Thibault S, Bradley J, Wood S, Lim AC, Chen H, Wang S, Foltz IN, Sambashivan S, Wang Z. Sudom A, et al. Among authors: lim ac. J Biol Chem. 2018 Aug 10;293(32):12634-12646. doi: 10.1074/jbc.RA118.002352. Epub 2018 May 24. J Biol Chem. 2018. PMID: 29794134 Free PMC article.
139 results