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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. 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.
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.
Briggs TA, Rice GI, Daly S, Urquhart J, Gornall H, Bader-Meunier B, Baskar K, Baskar S, Baudouin V, Beresford MW, Black GC, Dearman RJ, de Zegher F, Foster ES, Francès C, Hayman AR, Hilton E, Job-Deslandre C, Kulkarni ML, Le Merrer M, Linglart A, Lovell SC, Maurer K, Musset L, Navarro V, Picard C, Puel A, Rieux-Laucat F, Roifman CM, Scholl-Bürgi S, Smith N, Szynkiewicz M, Wiedeman A, Wouters C, Zeef LA, Casanova JL, Elkon KB, Janckila A, Lebon P, Crow YJ. Briggs TA, et al. Among authors: rice gi. Nat Genet. 2011 Feb;43(2):127-31. doi: 10.1038/ng.748. Epub 2011 Jan 9. Nat Genet. 2011. PMID: 21217755 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. 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.
Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.
Bursztejn AC, Briggs TA, del Toro Duany Y, Anderson BH, O'Sullivan J, Williams SG, Bodemer C, Fraitag S, Gebhard F, Leheup B, Lemelle I, Oojageer A, Raffo E, Schmitt E, Rice GI, Hur S, Crow YJ. Bursztejn AC, et al. Among authors: rice gi. Br J Dermatol. 2015 Dec;173(6):1505-13. doi: 10.1111/bjd.14073. Epub 2015 Oct 29. Br J Dermatol. 2015. PMID: 26284909 Free PMC article.
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
Briggs TA, Rice GI, Adib N, Ades L, Barete S, Baskar K, Baudouin V, Cebeci AN, Clapuyt P, Coman D, De Somer L, Finezilber Y, Frydman M, Guven A, Heritier S, Karall D, Kulkarni ML, Lebon P, Levitt D, Le Merrer M, Linglart A, Livingston JH, Navarro V, Okenfuss E, Puel A, Revencu N, Scholl-Bürgi S, Vivarelli M, Wouters C, Bader-Meunier B, Crow YJ. Briggs TA, et al. Among authors: rice gi. J Clin Immunol. 2016 Apr;36(3):220-34. doi: 10.1007/s10875-016-0252-y. Epub 2016 Mar 8. J Clin Immunol. 2016. PMID: 26951490 Free PMC article.
Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
Briggs TA, Rice GI, Adib N, Ades L, Barete S, Baskar K, Baudouin V, Cebeci AN, Clapuyt P, Coman D, De Somer L, Finezilber Y, Frydman M, Guven A, Heritier S, Karall D, Kulkarni ML, Lebon P, Levitt D, Le Merrer M, Linglart A, Livingston JH, Navarro V, Okenfuss E, Puel A, Revencu N, Scholl-Bürgi S, Vivarelli M, Wouters C, Bader-Meunier B, Crow YJ. Briggs TA, et al. Among authors: rice gi. J Clin Immunol. 2016 Jul;36(5):529-530. doi: 10.1007/s10875-016-0287-0. J Clin Immunol. 2016. PMID: 27125509 Free PMC article. No abstract available.
Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease.
Rice GI, Melki I, Frémond ML, Briggs TA, Rodero MP, Kitabayashi N, Oojageer A, Bader-Meunier B, Belot A, Bodemer C, Quartier P, Crow YJ. Rice GI, et al. J Clin Immunol. 2017 Feb;37(2):123-132. doi: 10.1007/s10875-016-0359-1. Epub 2016 Dec 9. J Clin Immunol. 2017. PMID: 27943079 Free PMC article.
138 results