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TLR7 gain-of-function genetic variation causes human lupus.
Brown GJ, Cañete PF, Wang H, Medhavy A, Bones J, Roco JA, He Y, Qin Y, Cappello J, Ellyard JI, Bassett K, Shen Q, Burgio G, Zhang Y, Turnbull C, Meng X, Wu P, Cho E, Miosge LA, Andrews TD, Field MA, Tvorogov D, Lopez AF, Babon JJ, López CA, Gónzalez-Murillo Á, Garulo DC, Pascual V, Levy T, Mallack EJ, Calame DG, Lotze T, Lupski JR, Ding H, Ullah TR, Walters GD, Koina ME, Cook MC, Shen N, de Lucas Collantes C, Corry B, Gantier MP, Athanasopoulos V, Vinuesa CG. Brown GJ, et al. Among authors: field ma. Nature. 2022 May;605(7909):349-356. doi: 10.1038/s41586-022-04642-z. Epub 2022 Apr 27. Nature. 2022. PMID: 35477763 Free PMC article.
B cell survival, surface BCR and BAFFR expression, CD74 metabolism, and CD8- dendritic cells require the intramembrane endopeptidase SPPL2A.
Bergmann H, Yabas M, Short A, Miosge L, Barthel N, Teh CE, Roots CM, Bull KR, Jeelall Y, Horikawa K, Whittle B, Balakishnan B, Sjollema G, Bertram EM, Mackay F, Rimmer AJ, Cornall RJ, Field MA, Andrews TD, Goodnow CC, Enders A. Bergmann H, et al. Among authors: field ma. J Exp Med. 2013 Jan 14;210(1):31-40. doi: 10.1084/jem.20121076. Epub 2012 Dec 24. J Exp Med. 2013. PMID: 23267016 Free PMC article.
Rasgrp1 mutation increases naive T-cell CD44 expression and drives mTOR-dependent accumulation of Helios⁺ T cells and autoantibodies.
Daley SR, Coakley KM, Hu DY, Randall KL, Jenne CN, Limnander A, Myers DR, Polakos NK, Enders A, Roots C, Balakishnan B, Miosge LA, Sjollema G, Bertram EM, Field MA, Shao Y, Andrews TD, Whittle B, Barnes SW, Walker JR, Cyster JG, Goodnow CC, Roose JP. Daley SR, et al. Among authors: field ma. Elife. 2013 Dec 12;2:e01020. doi: 10.7554/eLife.01020. Elife. 2013. PMID: 24336796 Free PMC article.
Zinc-finger protein ZFP318 is essential for expression of IgD, the alternatively spliced Igh product made by mature B lymphocytes.
Enders A, Short A, Miosge LA, Bergmann H, Sontani Y, Bertram EM, Whittle B, Balakishnan B, Yoshida K, Sjollema G, Field MA, Andrews TD, Hagiwara H, Goodnow CC. Enders A, et al. Among authors: field ma. Proc Natl Acad Sci U S A. 2014 Mar 25;111(12):4513-8. doi: 10.1073/pnas.1402739111. Epub 2014 Mar 10. Proc Natl Acad Sci U S A. 2014. PMID: 24616512 Free PMC article.
Identification of a pathogenic variant in TREX1 in early-onset cerebral systemic lupus erythematosus by Whole-exome sequencing.
Ellyard JI, Jerjen R, Martin JL, Lee AY, Field MA, Jiang SH, Cappello J, Naumann SK, Andrews TD, Scott HS, Casarotto MG, Goodnow CC, Chaitow J, Pascual V, Hertzog P, Alexander SI, Cook MC, Vinuesa CG. Ellyard JI, et al. Among authors: field ma. Arthritis Rheumatol. 2014 Dec;66(12):3382-6. doi: 10.1002/art.38824. Arthritis Rheumatol. 2014. PMID: 25138095
Reducing the search space for causal genetic variants with VASP.
Field MA, Cho V, Cook MC, Enders A, Vinuesa CG, Whittle B, Andrews TD, Goodnow CC. Field MA, et al. Bioinformatics. 2015 Jul 15;31(14):2377-9. doi: 10.1093/bioinformatics/btv135. Epub 2015 Mar 8. Bioinformatics. 2015. PMID: 25755272 Free PMC article.
Comparison of predicted and actual consequences of missense mutations.
Miosge LA, Field MA, Sontani Y, Cho V, Johnson S, Palkova A, Balakishnan B, Liang R, Zhang Y, Lyon S, Beutler B, Whittle B, Bertram EM, Enders A, Goodnow CC, Andrews TD. Miosge LA, et al. Among authors: field ma. Proc Natl Acad Sci U S A. 2015 Sep 15;112(37):E5189-98. doi: 10.1073/pnas.1511585112. Epub 2015 Aug 12. Proc Natl Acad Sci U S A. 2015. PMID: 26269570 Free PMC article.
141 results