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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: cappello j. 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.
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: cappello j. Arthritis Rheumatol. 2014 Dec;66(12):3382-6. doi: 10.1002/art.38824. Arthritis Rheumatol. 2014. PMID: 25138095
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: cappello jy. Elife. 2015 Oct 23;4:e08698. doi: 10.7554/eLife.08698. Elife. 2015. PMID: 26496200 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: cappello j. Nat Commun. 2019 May 17;10(1):2201. doi: 10.1038/s41467-019-10242-9. Nat Commun. 2019. PMID: 31101814 Free PMC article.
Class-Switch Recombination Occurs Infrequently in Germinal Centers.
Roco JA, Mesin L, Binder SC, Nefzger C, Gonzalez-Figueroa P, Canete PF, Ellyard J, Shen Q, Robert PA, Cappello J, Vohra H, Zhang Y, Nowosad CR, Schiepers A, Corcoran LM, Toellner KM, Polo JM, Meyer-Hermann M, Victora GD, Vinuesa CG. Roco JA, et al. Among authors: cappello j. Immunity. 2019 Aug 20;51(2):337-350.e7. doi: 10.1016/j.immuni.2019.07.001. Epub 2019 Jul 30. Immunity. 2019. PMID: 31375460 Free PMC article.
A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation.
Tavernier SJ, Athanasopoulos V, Verloo P, Behrens G, Staal J, Bogaert DJ, Naesens L, De Bruyne M, Van Gassen S, Parthoens E, Ellyard J, Cappello J, Morris LX, Van Gorp H, Van Isterdael G, Saeys Y, Lamkanfi M, Schelstraete P, Dehoorne J, Bordon V, Van Coster R, Lambrecht BN, Menten B, Beyaert R, Vinuesa CG, Heissmeyer V, Dullaers M, Haerynck F. Tavernier SJ, et al. Among authors: cappello j. Nat Commun. 2019 Oct 21;10(1):4779. doi: 10.1038/s41467-019-12704-6. Nat Commun. 2019. PMID: 31636267 Free PMC article.
Author Correction: A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation.
Tavernier SJ, Athanasopoulos V, Verloo P, Behrens G, Staal J, Bogaert DJ, Naesens L, De Bruyne M, Van Gassen S, Parthoens E, Ellyard J, Cappello J, Morris LX, Van Gorp H, Van Isterdael G, Saeys Y, Lamkanfi M, Schelstraete P, Dehoorne J, Bordon V, Van Coster R, Lambrecht BN, Menten B, Beyaert R, Vinuesa CG, Heissmeyer V, Dullaers M, Haerynck F. Tavernier SJ, et al. Among authors: cappello j. Nat Commun. 2019 Nov 20;10(1):5337. doi: 10.1038/s41467-019-13379-9. Nat Commun. 2019. PMID: 31745085 Free PMC article.
DECTIN-1: A modifier protein in CTLA-4 haploinsufficiency.
Turnbull C, Bones J, Stanley M, Medhavy A, Wang H, Lorenzo AMD, Cappello J, Shanmuganandam S, Pandey A, Seneviratne S, Brown GJ, Meng X, Fulcher D, Burgio G, Man SM, de Lucas Collantes C, Gasior M, López Granados E, Martin P, Jiang SH, Cook MC, Ellyard JI, Athanasopoulos V, Corry B, Canete PF, Vinuesa CG. Turnbull C, et al. Among authors: cappello j. Sci Adv. 2023 Dec 8;9(49):eadi9566. doi: 10.1126/sciadv.adi9566. Epub 2023 Dec 6. Sci Adv. 2023. PMID: 38055819 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: cappello jy. J Exp Med. 2024 Apr 1;221(4):e20221080. doi: 10.1084/jem.20221080. Epub 2024 Feb 28. J Exp Med. 2024. PMID: 38417019
97 results