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Page 1
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ. Rice GI, et al. Among authors: rodero mp. Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14. Hum Mutat. 2020. PMID: 31898846 Free PMC article.
cGMP-AMP synthase paves the way to autoimmunity.
Rodero MP, Crow YJ. Rodero MP, et al. Proc Natl Acad Sci U S A. 2015 Oct 20;112(42):12903-4. doi: 10.1073/pnas.1517578112. Epub 2015 Oct 8. Proc Natl Acad Sci U S A. 2015. PMID: 26450878 Free PMC article. No abstract available.
Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children.
Frémond ML, Rodero MP, Jeremiah N, Belot A, Jeziorski E, Duffy D, Bessis D, Cros G, Rice GI, Charbit B, Hulin A, Khoudour N, Caballero CM, Bodemer C, Fabre M, Berteloot L, Le Bourgeois M, Reix P, Walzer T, Moshous D, Blanche S, Fischer A, Bader-Meunier B, Rieux-Laucat F, Crow YJ, Neven B. Frémond ML, et al. Among authors: rodero mp. J Allergy Clin Immunol. 2016 Dec;138(6):1752-1755. doi: 10.1016/j.jaci.2016.07.015. Epub 2016 Aug 20. J Allergy Clin Immunol. 2016. PMID: 27554814 Free article. No abstract available.
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ. Jenkinson EM, et al. Among authors: rodero mp. Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29. Nat Genet. 2016. PMID: 27571260 Free PMC article.
JAK inhibition in STING-associated interferonopathy.
Rodero MP, Frémond ML, Rice GI, Neven B, Crow YJ. Rodero MP, et al. Ann Rheum Dis. 2016 Dec;75(12):e75. doi: 10.1136/annrheumdis-2016-210504. Epub 2016 Oct 12. Ann Rheum Dis. 2016. PMID: 27733349 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. Among authors: rodero mp. 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.
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.
Melki I, Rose Y, Uggenti C, Van Eyck L, Frémond ML, Kitabayashi N, Rice GI, Jenkinson EM, Boulai A, Jeremiah N, Gattorno M, Volpi S, Sacco O, Terheggen-Lagro SWJ, Tiddens HAWM, Meyts I, Morren MA, De Haes P, Wouters C, Legius E, Corveleyn A, Rieux-Laucat F, Bodemer C, Callebaut I, Rodero MP, Crow YJ. Melki I, et al. Among authors: rodero mp. J Allergy Clin Immunol. 2017 Aug;140(2):543-552.e5. doi: 10.1016/j.jaci.2016.10.031. Epub 2017 Jan 10. J Allergy Clin Immunol. 2017. PMID: 28087229
85 results