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Page 1
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: miosge la. 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. 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: miosge la. 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: miosge la. 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.
Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus.
Jiang SH, Athanasopoulos V, Ellyard JI, Chuah A, Cappello J, Cook A, Prabhu SB, Cardenas J, Gu J, Stanley M, Roco JA, Papa I, Yabas M, Walters GD, Burgio G, McKeon K, Byers JM, Burrin C, Enders A, Miosge LA, Canete PF, Jelusic M, Tasic V, Lungu AC, Alexander SI, Kitching AR, Fulcher DA, Shen N, Arsov T, Gatenby PA, Babon JJ, Mallon DF, de Lucas Collantes C, Stone EA, Wu P, Field MA, Andrews TD, Cho E, Pascual V, Cook MC, Vinuesa CG. Jiang SH, et al. Among authors: miosge la. Nat Commun. 2019 May 17;10(1):2201. doi: 10.1038/s41467-019-10242-9. Nat Commun. 2019. PMID: 31101814 Free PMC article.
Nfkb2 variants reveal a p100-degradation threshold that defines autoimmune susceptibility.
Wirasinha RC, Davies AR, Srivastava M, Sheridan JM, Sng XYX, Delmonte OM, Dobbs K, Loh KL, Miosge LA, Lee CE, Chand R, Chan A, Yap JY, Keller MD, Chen K, Rossjohn J, La Gruta NL, Vinuesa CG, Reid HH, Lionakis MS, Notarangelo LD, Gray DHD, Goodnow CC, Cook MC, Daley SR. Wirasinha RC, et al. Among authors: la gruta nl, miosge la. J Exp Med. 2021 Feb 1;218(2):e20200476. doi: 10.1084/jem.20200476. J Exp Med. 2021. PMID: 33107914 Free PMC article.
NINJ1 mediates plasma membrane rupture during lytic cell death.
Kayagaki N, Kornfeld OS, Lee BL, Stowe IB, O'Rourke K, Li Q, Sandoval W, Yan D, Kang J, Xu M, Zhang J, Lee WP, McKenzie BS, Ulas G, Payandeh J, Roose-Girma M, Modrusan Z, Reja R, Sagolla M, Webster JD, Cho V, Andrews TD, Morris LX, Miosge LA, Goodnow CC, Bertram EM, Dixit VM. Kayagaki N, et al. Among authors: miosge la. Nature. 2021 Mar;591(7848):131-136. doi: 10.1038/s41586-021-03218-7. Epub 2021 Jan 20. Nature. 2021. PMID: 33472215
A Point Mutation in IKAROS ZF1 Causes a B Cell Deficiency in Mice.
Boast B, Miosge LA, Kuehn HS, Cho V, Athanasopoulos V, McNamara HA, Sontani Y, Mei Y, Howard D, Sutton HJ, Omari SA, Yu Z, Nasreen M, Andrews TD, Cockburn IA, Goodnow CC, Rosenzweig SD, Enders A. Boast B, et al. Among authors: miosge la. J Immunol. 2021 Apr 1;206(7):1505-1514. doi: 10.4049/jimmunol.1901464. Epub 2021 Mar 3. J Immunol. 2021. PMID: 33658297 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. 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.
35 results