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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ. Rice GI, et al. Among authors: whittaker e. Nat Genet. 2009 Jul;41(7):829-32. doi: 10.1038/ng.373. Epub 2009 Jun 14. Nat Genet. 2009. PMID: 19525956 Free PMC article.
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W Jr, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC, Crow YJ. Rice GI, et al. Among authors: whittaker e. Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23. Nat Genet. 2012. PMID: 23001123 Free PMC article.
Paediatric tuberculosis.
Newton SM, Brent AJ, Anderson S, Whittaker E, Kampmann B. Newton SM, et al. Among authors: whittaker e. Lancet Infect Dis. 2008 Aug;8(8):498-510. doi: 10.1016/S1473-3099(08)70182-8. Lancet Infect Dis. 2008. PMID: 18652996 Free PMC article. Review.
Tuberculosis susceptibility and protection in children.
Basu Roy R, Whittaker E, Seddon JA, Kampmann B. Basu Roy R, et al. Among authors: whittaker e. Lancet Infect Dis. 2019 Mar;19(3):e96-e108. doi: 10.1016/S1473-3099(18)30157-9. Epub 2018 Oct 12. Lancet Infect Dis. 2019. PMID: 30322790 Free PMC article. Review.
Immunology and pathogenesis of childhood TB.
Jones C, Whittaker E, Bamford A, Kampmann B. Jones C, et al. Among authors: whittaker e. Paediatr Respir Rev. 2011 Mar;12(1):3-8. doi: 10.1016/j.prrv.2010.09.006. Epub 2010 Oct 13. Paediatr Respir Rev. 2011. PMID: 21172668 Review. No abstract available.
227 results