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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: garulo dc. 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.
Current treatment in macrophage activation syndrome worldwide: a systematic literature review to inform the METAPHOR project.
Baldo F, Erkens RGA, Mizuta M, Rogani G, Lucioni F, Bracaglia C, Foell D, Gattorno M, Jelusic M, Anton J, Brogan P, Canna S, Chandrakasan S, Cron RQ, De Benedetti F, Grom A, Heshin-Bekenstein M, Horne A, Khubchandani R, Ozen S, Quartier P, Ravelli A, Shimizu M, Schulert G, Scott C, Sinha R, Ruperto N, Swart JF, Vastert S, Minoia F; PReS MAS/sJIA Working Party and Paediatric Rheumatology International Trial Organization. Baldo F, et al. Rheumatology (Oxford). 2025 Jan 1;64(1):32-44. doi: 10.1093/rheumatology/keae391. Rheumatology (Oxford). 2025. PMID: 39058514 Free PMC article.
Risk scores for Kawasaki disease, a management tool developed by the KAWA-RACE cohort.
Grasa CD, Fernández-Cooke E, Domínguez-Rodríguez S, Aracil-Santos J, Barrios Tascon A, Sánchez-Manubens J, Mercader B, Antón J, Nuñez E, Villalobos E, Bustillo M, Camacho M, Oltra Benavent M, Giralt G, Bello Naranjo AM, Rocandio B, Calvo C; Spanish group for the study of Kawasaki Disease (KAWA-RACE). Grasa CD, et al. Clin Rheumatol. 2022 Dec;41(12):3759-3768. doi: 10.1007/s10067-022-06319-4. Epub 2022 Aug 8. Clin Rheumatol. 2022. PMID: 35939163
Orthopedic Conditions and Interplay with Functional Abilities and MECP2 Variant Subtype in Rett Syndrome Patients.
Galán-Olleros M, González-Alguacil E, Soto-Insuga V, Vara-Arias MT, Ortiz-Cabrera NV, Serrano JI, Egea-Gámez RM, García-Peñas JJ, Martínez-Caballero I; RTT-HNJ, Rett Syndrome Multidisciplinary Group of Hospital Infantil Universitario Niño Jesús. Galán-Olleros M, et al. J Autism Dev Disord. 2025 Aug;55(8):2873-2883. doi: 10.1007/s10803-024-06399-y. Epub 2024 May 25. J Autism Dev Disord. 2025. PMID: 38795288