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27 results

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Page 1
Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling.
Lepelley A, Martin-Niclós MJ, Le Bihan M, Marsh JA, Uggenti C, Rice GI, Bondet V, Duffy D, Hertzog J, Rehwinkel J, Amselem S, Boulisfane-El Khalifi S, Brennan M, Carter E, Chatenoud L, Chhun S, Coulomb l'Hermine A, Depp M, Legendre M, Mackenzie KJ, Marey J, McDougall C, McKenzie KJ, Molina TJ, Neven B, Seabra L, Thumerelle C, Wislez M, Nathan N, Manel N, Crow YJ, Frémond ML. Lepelley A, et al. J Exp Med. 2020 Nov 2;217(11):e20200600. doi: 10.1084/jem.20200600. J Exp Med. 2020. PMID: 32725128 Free PMC article.
Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome.
Rice GI, Meyzer C, Bouazza N, Hully M, Boddaert N, Semeraro M, Zeef LAH, Rozenberg F, Bondet V, Duffy D, Llibre A, Baek J, Sambe MN, Henry E, Jolaine V, Barnerias C, Barth M, Belot A, Cances C, Debray FG, Doummar D, Frémond ML, Kitabayashi N, Lepelley A, Levrat V, Melki I, Meyer P, Nougues MC, Renaldo F, Rodero MP, Rodriguez D, Roubertie A, Seabra L, Uggenti C, Abdoul H, Treluyer JM, Desguerre I, Blanche S, Crow YJ. Rice GI, et al. Among authors: lepelley a. N Engl J Med. 2018 Dec 6;379(23):2275-7. doi: 10.1056/NEJMc1810983. N Engl J Med. 2018. PMID: 30566312 Free article. No abstract available.
Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling.
Melki I, Devilliers H, Gitiaux C, Bondet V, Duffy D, Charuel JL, Miyara M, Bokov P, Kheniche A, Kwon T, Authier FJ, Allenbach Y, Belot A, Bodemer C, Bourrat E, Dumaine C, Fabien N, Faye A, Frémond ML, Hadchouel A, Kitabayashi N, Lepelley A, Martin-Niclos MJ, Mudumba S, Musset L, Quartier P, Rice GI, Seabra L, Uettwiller F, Uggenti C, Viel S, Rodero MP, Crow YJ, Bader-Meunier B. Melki I, et al. Among authors: lepelley a. Rheumatology (Oxford). 2020 Aug 1;59(8):1927-1937. doi: 10.1093/rheumatology/kez525. Rheumatology (Oxford). 2020. PMID: 31755959
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: lepelley a. 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.
Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies.
Lodi L, Melki I, Bondet V, Seabra L, Rice GI, Carter E, Lepelley A, Martin-Niclós MJ, Al Adba B, Bader-Meunier B, Barth M, Blauwblomme T, Bodemer C, Boespflug-Tanguy O, Dale RC, Desguerre I, Ducrocq C, Dulieu F, Dumaine C, Ellul P, Hadchouel A, Hentgen V, Hié M, Hully M, Jeziorski E, Lévy R, Mochel F, Orcesi S, Passemard S, Pouletty M, Quartier P, Renaldo F, Seidl R, Shetty J, Neven B, Blanche S, Duffy D, Crow YJ, Frémond ML. Lodi L, et al. Among authors: lepelley a. J Clin Immunol. 2021 Apr;41(3):603-609. doi: 10.1007/s10875-020-00952-x. Epub 2021 Jan 7. J Clin Immunol. 2021. PMID: 33411153
[sCOPing STING out of the Golgi to prevent autoinflammation].
Lepelley A, Frémond ML. Lepelley A, et al. Med Sci (Paris). 2021 Mar;37(3):222-225. doi: 10.1051/medsci/2021005. Epub 2021 Mar 19. Med Sci (Paris). 2021. PMID: 33739267 Free article. French. No abstract available.
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A.
Lepelley A, Della Mina E, Van Nieuwenhove E, Waumans L, Fraitag S, Rice GI, Dhir A, Frémond ML, Rodero MP, Seabra L, Carter E, Bodemer C, Buhas D, Callewaert B, de Lonlay P, De Somer L, Dyment DA, Faes F, Grove L, Holden S, Hully M, Kurian MA, McMillan HJ, Suetens K, Tyynismaa H, Chhun S, Wai T, Wouters C, Bader-Meunier B, Crow YJ. Lepelley A, et al. J Exp Med. 2021 Oct 4;218(10):e20201560. doi: 10.1084/jem.20201560. Epub 2021 Aug 13. J Exp Med. 2021. PMID: 34387651 Free PMC article.
27 results