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Gain-of-function IKBKB mutation causes human combined immune deficiency.
Cardinez C, Miraghazadeh B, Tanita K, da Silva E, Hoshino A, Okada S, Chand R, Asano T, Tsumura M, Yoshida K, Ohnishi H, Kato Z, Yamazaki M, Okuno Y, Miyano S, Kojima S, Ogawa S, Andrews TD, Field MA, Burgio G, Morio T, Vinuesa CG, Kanegane H, Cook MC. Cardinez C, et al. Among authors: andrews td. J Exp Med. 2018 Nov 5;215(11):2715-2724. doi: 10.1084/jem.20180639. Epub 2018 Oct 18. J Exp Med. 2018. PMID: 30337470 Free PMC article.
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: andrews td. 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.
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: andrews td. Nat Commun. 2019 May 17;10(1):2201. doi: 10.1038/s41467-019-10242-9. Nat Commun. 2019. PMID: 31101814 Free PMC article.
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. Among authors: andrews td. Bioinformatics. 2015 Jul 15;31(14):2377-9. doi: 10.1093/bioinformatics/btv135. Epub 2015 Mar 8. Bioinformatics. 2015. PMID: 25755272 Free PMC article.
Deletions in VANGL1 are a risk factor for antibody-mediated kidney disease.
Jiang SH, Mercan S, Papa I, Moldovan M, Walters GD, Koina M, Fadia M, Stanley M, Lea-Henry T, Cook A, Ellyard J, McMorran B, Sundaram M, Thomson R, Canete PF, Hoy W, Hutton H, Srivastava M, McKeon K, de la Rúa Figueroa I, Cervera R, Faria R, D'Alfonso S, Gatto M, Athanasopoulos V, Field M, Mathews J, Cho E, Andrews TD, Kitching AR, Cook MC, Riquelme MA, Bahlo M, Vinuesa CG. Jiang SH, et al. Among authors: andrews td. Cell Rep Med. 2021 Dec 21;2(12):100475. doi: 10.1016/j.xcrm.2021.100475. eCollection 2021 Dec 21. Cell Rep Med. 2021. PMID: 35028616 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: andrews td. 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.
62 results