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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: babon jj. 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.
Roquin binds microRNA-146a and Argonaute2 to regulate microRNA homeostasis.
Srivastava M, Duan G, Kershaw NJ, Athanasopoulos V, Yeo JH, Ose T, Hu D, Brown SH, Jergic S, Patel HR, Pratama A, Richards S, Verma A, Jones EY, Heissmeyer V, Preiss T, Dixon NE, Chong MM, Babon JJ, Vinuesa CG. Srivastava M, et al. Among authors: babon jj. Nat Commun. 2015 Feb 20;6:6253. doi: 10.1038/ncomms7253. Nat Commun. 2015. PMID: 25697406 Free PMC article.
Attenuation of AMPK signaling by ROQUIN promotes T follicular helper cell formation.
Ramiscal RR, Parish IA, Lee-Young RS, Babon JJ, Blagih J, Pratama A, Martin J, Hawley N, Cappello JY, Nieto PF, Ellyard JI, Kershaw NJ, Sweet RA, Goodnow CC, Jones RG, Febbraio MA, Vinuesa CG, Athanasopoulos V. Ramiscal RR, et al. Among authors: babon jj. Elife. 2015 Oct 23;4:e08698. doi: 10.7554/eLife.08698. Elife. 2015. PMID: 26496200 Free PMC article.
Accumulation of JAK activation loop phosphorylation is linked to type I JAK inhibitor withdrawal syndrome in myelofibrosis.
Tvorogov D, Thomas D, Liau NPD, Dottore M, Barry EF, Lathi M, Kan WL, Hercus TR, Stomski F, Hughes TP, Tergaonkar V, Parker MW, Ross DM, Majeti R, Babon JJ, Lopez AF. Tvorogov D, et al. Among authors: babon jj. Sci Adv. 2018 Nov 28;4(11):eaat3834. doi: 10.1126/sciadv.aat3834. eCollection 2018 Nov. Sci Adv. 2018. PMID: 30498775 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: babon jj. Nat Commun. 2019 May 17;10(1):2201. doi: 10.1038/s41467-019-10242-9. Nat Commun. 2019. PMID: 31101814 Free PMC article.
Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity.
Zhang Y, Morris R, Brown GJ, Lorenzo AMD, Meng X, Kershaw NJ, Kiridena P, Burgio G, Gross S, Cappello JY, Shen Q, Wang H, Turnbull C, Lea-Henry T, Stanley M, Yu Z, Ballard FD, Chuah A, Lee JC, Hatch AM, Enders A, Masters SL, Headley AP, Trnka P, Mallon D, Fletcher JT, Walters GD, Šestan M, Jelušić M, Cook MC, Athanasopoulos V, Fulcher DA, Babon JJ, Vinuesa CG, Ellyard JI. Zhang Y, et al. Among authors: babon jj. J Exp Med. 2024 Apr 1;221(4):e20221080. doi: 10.1084/jem.20221080. Epub 2024 Feb 28. J Exp Med. 2024. PMID: 38417019
CIS is a potent checkpoint in NK cell-mediated tumor immunity.
Delconte RB, Kolesnik TB, Dagley LF, Rautela J, Shi W, Putz EM, Stannard K, Zhang JG, Teh C, Firth M, Ushiki T, Andoniou CE, Degli-Esposti MA, Sharp PP, Sanvitale CE, Infusini G, Liau NP, Linossi EM, Burns CJ, Carotta S, Gray DH, Seillet C, Hutchinson DS, Belz GT, Webb AI, Alexander WS, Li SS, Bullock AN, Babon JJ, Smyth MJ, Nicholson SE, Huntington ND. Delconte RB, et al. Among authors: babon jj. Nat Immunol. 2016 Jul;17(7):816-24. doi: 10.1038/ni.3470. Epub 2016 May 23. Nat Immunol. 2016. PMID: 27213690
Ptpn6 inhibits caspase-8- and Ripk3/Mlkl-dependent inflammation.
Speir M, Nowell CJ, Chen AA, O'Donnell JA, Shamie IS, Lakin PR, D'Cruz AA, Braun RO, Babon JJ, Lewis RS, Bliss-Moreau M, Shlomovitz I, Wang S, Cengia LH, Stoica AI, Hakem R, Kelliher MA, O'Reilly LA, Patsiouras H, Lawlor KE, Weller E, Lewis NE, Roberts AW, Gerlic M, Croker BA. Speir M, et al. Among authors: babon jj. Nat Immunol. 2020 Jan;21(1):54-64. doi: 10.1038/s41590-019-0550-7. Epub 2019 Dec 9. Nat Immunol. 2020. PMID: 31819256 Free PMC article.
106 results