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A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.
Zhou Q, Lee GS, Brady J, Datta S, Katan M, Sheikh A, Martins MS, Bunney TD, Santich BH, Moir S, Kuhns DB, Long Priel DA, Ombrello A, Stone D, Ombrello MJ, Khan J, Milner JD, Kastner DL, Aksentijevich I. Zhou Q, et al. Among authors: bunney td. Am J Hum Genet. 2012 Oct 5;91(4):713-20. doi: 10.1016/j.ajhg.2012.08.006. Epub 2012 Sep 20. Am J Hum Genet. 2012. PMID: 23000145 Free PMC article.
A small-molecule PI3Kα activator for cardioprotection and neuroregeneration.
Gong GQ, Bilanges B, Allsop B, Masson GR, Roberton V, Askwith T, Oxenford S, Madsen RR, Conduit SE, Bellini D, Fitzek M, Collier M, Najam O, He Z, Wahab B, McLaughlin SH, Chan AWE, Feierberg I, Madin A, Morelli D, Bhamra A, Vinciauskaite V, Anderson KE, Surinova S, Pinotsis N, Lopez-Guadamillas E, Wilcox M, Hooper A, Patel C, Whitehead MA, Bunney TD, Stephens LR, Hawkins PT, Katan M, Yellon DM, Davidson SM, Smith DM, Phillips JB, Angell R, Williams RL, Vanhaesebroeck B. Gong GQ, et al. Among authors: bunney td. Nature. 2023 Jun;618(7963):159-168. doi: 10.1038/s41586-023-05972-2. Epub 2023 May 24. Nature. 2023. PMID: 37225977 Free PMC article.
Characterization of phospholipase C gamma enzymes with gain-of-function mutations.
Everett KL, Bunney TD, Yoon Y, Rodrigues-Lima F, Harris R, Driscoll PC, Abe K, Fuchs H, de Angelis MH, Yu P, Cho W, Katan M. Everett KL, et al. Among authors: bunney td. J Biol Chem. 2009 Aug 21;284(34):23083-93. doi: 10.1074/jbc.M109.019265. Epub 2009 Jun 16. J Biol Chem. 2009. PMID: 19531496 Free PMC article.
52 results