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cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.
Uggenti C, Lepelley A, Depp M, Badrock AP, Rodero MP, El-Daher MT, Rice GI, Dhir S, Wheeler AP, Dhir A, Albawardi W, Frémond ML, Seabra L, Doig J, Blair N, Martin-Niclos MJ, Della Mina E, Rubio-Roldán A, García-Pérez JL, Sproul D, Rehwinkel J, Hertzog J, Boland-Auge A, Olaso R, Deleuze JF, Baruteau J, Brochard K, Buckley J, Cavallera V, Cereda C, De Waele LMH, Dobbie A, Doummar D, Elmslie F, Koch-Hogrebe M, Kumar R, Lamb K, Livingston JH, Majumdar A, Lorenço CM, Orcesi S, Peudenier S, Rostasy K, Salmon CA, Scott C, Tonduti D, Touati G, Valente M, van der Linden H Jr, Van Esch H, Vermelle M, Webb K, Jackson AP, Reijns MAM, Gilbert N, Crow YJ. Uggenti C, et al. Among authors: scott c. Nat Genet. 2020 Dec;52(12):1364-1372. doi: 10.1038/s41588-020-00737-3. Epub 2020 Nov 23. Nat Genet. 2020. PMID: 33230297 Free article.
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
Rice GI, Del Toro Duany Y, Jenkinson EM, Forte GM, Anderson BH, Ariaudo G, Bader-Meunier B, Baildam EM, Battini R, Beresford MW, Casarano M, Chouchane M, Cimaz R, Collins AE, Cordeiro NJ, Dale RC, Davidson JE, De Waele L, Desguerre I, Faivre L, Fazzi E, Isidor B, Lagae L, Latchman AR, Lebon P, Li C, Livingston JH, Lourenço CM, Mancardi MM, Masurel-Paulet A, McInnes IB, Menezes MP, Mignot C, O'Sullivan J, Orcesi S, Picco PP, Riva E, Robinson RA, Rodriguez D, Salvatici E, Scott C, Szybowska M, Tolmie JL, Vanderver A, Vanhulle C, Vieira JP, Webb K, Whitney RN, Williams SG, Wolfe LA, Zuberi SM, Hur S, Crow YJ. Rice GI, et al. Among authors: scott c. Nat Genet. 2014 May;46(5):503-509. doi: 10.1038/ng.2933. Epub 2014 Mar 30. Nat Genet. 2014. PMID: 24686847 Free PMC article.
Multisystem inflammatory syndrome in children in South Africa.
Webb K, Abraham DR, Faleye A, McCulloch M, Rabie H, Scott C; Cape Town MISC-Team. Webb K, et al. Among authors: scott c. Lancet Child Adolesc Health. 2020 Oct;4(10):e38. doi: 10.1016/S2352-4642(20)30272-8. Epub 2020 Aug 21. Lancet Child Adolesc Health. 2020. PMID: 32835654 Free PMC article. No abstract available.
IL27 gene expression distinguishes multisystem inflammatory syndrome in children from febrile illness in a South African cohort.
Spracklen TF, Mendelsohn SC, Butters C, Facey-Thomas H, Stander R, Abrahams D, Erasmus M, Baguma R, Day J, Scott C, Zühlke LJ, Kassiotis G, Scriba TJ, Webb K. Spracklen TF, et al. Among authors: scott c. Front Immunol. 2022 Sep 6;13:992022. doi: 10.3389/fimmu.2022.992022. eCollection 2022. Front Immunol. 2022. PMID: 36148243 Free PMC article.
Improving musculoskeletal health for children and young people - A 'call to action'.
Foster HE, Scott C, Tiderius CJ, Dobbs MB; Members of the Paediatric Global Musculoskeletal Task Force. Foster HE, et al. Among authors: scott c. Best Pract Res Clin Rheumatol. 2020 Oct;34(5):101566. doi: 10.1016/j.berh.2020.101566. Epub 2020 Jul 26. Best Pract Res Clin Rheumatol. 2020. PMID: 32727697 Free PMC article. Review.
Pediatric rheumatology in Africa: thriving amidst challenges.
Migowa AN, Hadef D, Hamdi W, Mwizerwa O, Ngandeu M, Taha Y, Ayodele F, Webb K, Scott C. Migowa AN, et al. Among authors: scott c. Pediatr Rheumatol Online J. 2021 May 7;19(1):69. doi: 10.1186/s12969-021-00557-7. Pediatr Rheumatol Online J. 2021. PMID: 33962643 Free PMC article.
4,457 results