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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: martins ms. 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.
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.
Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P, Subramanian N, Bunney TD, Baxendale RW, Martins MS, Romberg N, Komarow H, Aksentijevich I, Kim HS, Ho J, Cruse G, Jung MY, Gilfillan AM, Metcalfe DD, Nelson C, O'Brien M, Wisch L, Stone K, Douek DC, Gandhi C, Wanderer AA, Lee H, Nelson SF, Shianna KV, Cirulli ET, Goldstein DB, Long EO, Moir S, Meffre E, Holland SM, Kastner DL, Katan M, Hoffman HM, Milner JD. Ombrello MJ, et al. Among authors: martins ms. N Engl J Med. 2012 Jan 26;366(4):330-8. doi: 10.1056/NEJMoa1102140. Epub 2012 Jan 11. N Engl J Med. 2012. PMID: 22236196 Free PMC article.
Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa.
Neves JF, Doffinger R, Barcena-Morales G, Martins C, Papapietro O, Plagnol V, Curtis J, Martins M, Kumararatne D, Cordeiro AI, Neves C, Borrego LM, Katan M, Nejentsev S. Neves JF, et al. Front Immunol. 2018 Dec 14;9:2863. doi: 10.3389/fimmu.2018.02863. eCollection 2018. Front Immunol. 2018. PMID: 30619256 Free PMC article.
Tumor suppressor role of phospholipase C epsilon in Ras-triggered cancers.
Martins M, McCarthy A, Baxendale R, Guichard S, Magno L, Kessaris N, El-Bahrawy M, Yu P, Katan M. Martins M, et al. Proc Natl Acad Sci U S A. 2014 Mar 18;111(11):4239-44. doi: 10.1073/pnas.1311500111. Epub 2014 Mar 3. Proc Natl Acad Sci U S A. 2014. PMID: 24591640 Free PMC article.
Activity of PLCε contributes to chemotaxis of fibroblasts towards PDGF.
Martins M, Warren S, Kimberley C, Margineanu A, Peschard P, McCarthy A, Yeo M, Marshall CJ, Dunsby C, French PM, Katan M. Martins M, et al. J Cell Sci. 2012 Dec 1;125(Pt 23):5758-69. doi: 10.1242/jcs.110007. Epub 2012 Sep 19. J Cell Sci. 2012. PMID: 22992460 Free PMC article.
109 results