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Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis.
Lafaille FG, Harschnitz O, Lee YS, Zhang P, Hasek ML, Kerner G, Itan Y, Ewaleifoh O, Rapaport F, Carlile TM, Carter-Timofte ME, Paquet D, Dobbs K, Zimmer B, Gao D, Rojas-Duran MF, Kwart D, Rattina V, Ciancanelli MJ, McAlpine JL, Lorenzo L, Boucherit S, Rozenberg F, Halwani R, Henry B, Amenzoui N, Alsum Z, Marques L, Church JA, Al-Muhsen S, Tardieu M, Bousfiha AA, Paludan SR, Mogensen TH, Quintana-Murci L, Tessier-Lavigne M, Smith GA, Notarangelo LD, Studer L, Gilbert W, Abel L, Casanova JL, Zhang SY. Lafaille FG, et al. Nat Med. 2019 Dec;25(12):1873-1884. doi: 10.1038/s41591-019-0672-3. Epub 2019 Dec 5. Nat Med. 2019. PMID: 31806906 Free PMC article.
TLR3 deficiency in patients with herpes simplex encephalitis.
Zhang SY, Jouanguy E, Ugolini S, Smahi A, Elain G, Romero P, Segal D, Sancho-Shimizu V, Lorenzo L, Puel A, Picard C, Chapgier A, Plancoulaine S, Titeux M, Cognet C, von Bernuth H, Ku CL, Casrouge A, Zhang XX, Barreiro L, Leonard J, Hamilton C, Lebon P, Héron B, Vallée L, Quintana-Murci L, Hovnanian A, Rozenberg F, Vivier E, Geissmann F, Tardieu M, Abel L, Casanova JL. Zhang SY, et al. Science. 2007 Sep 14;317(5844):1522-7. doi: 10.1126/science.1139522. Science. 2007. PMID: 17872438
Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense.
Barreiro LB, Ben-Ali M, Quach H, Laval G, Patin E, Pickrell JK, Bouchier C, Tichit M, Neyrolles O, Gicquel B, Kidd JR, Kidd KK, Alcaïs A, Ragimbeau J, Pellegrini S, Abel L, Casanova JL, Quintana-Murci L. Barreiro LB, et al. PLoS Genet. 2009 Jul;5(7):e1000562. doi: 10.1371/journal.pgen.1000562. Epub 2009 Jul 17. PLoS Genet. 2009. PMID: 19609346 Free PMC article.
Evolutionary genetic dissection of human interferons.
Manry J, Laval G, Patin E, Fornarino S, Itan Y, Fumagalli M, Sironi M, Tichit M, Bouchier C, Casanova JL, Barreiro LB, Quintana-Murci L. Manry J, et al. J Exp Med. 2011 Dec 19;208(13):2747-59. doi: 10.1084/jem.20111680. Epub 2011 Dec 12. J Exp Med. 2011. PMID: 22162829 Free PMC article. Clinical Trial.
The human gene connectome as a map of short cuts for morbid allele discovery.
Itan Y, Zhang SY, Vogt G, Abhyankar A, Herman M, Nitschke P, Fried D, Quintana-Murci L, Abel L, Casanova JL. Itan Y, et al. Proc Natl Acad Sci U S A. 2013 Apr 2;110(14):5558-63. doi: 10.1073/pnas.1218167110. Epub 2013 Mar 18. Proc Natl Acad Sci U S A. 2013. PMID: 23509278 Free PMC article.
Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.
Bolze A, Mahlaoui N, Byun M, Turner B, Trede N, Ellis SR, Abhyankar A, Itan Y, Patin E, Brebner S, Sackstein P, Puel A, Picard C, Abel L, Quintana-Murci L, Faust SN, Williams AP, Baretto R, Duddridge M, Kini U, Pollard AJ, Gaud C, Frange P, Orbach D, Emile JF, Stephan JL, Sorensen R, Plebani A, Hammarstrom L, Conley ME, Selleri L, Casanova JL. Bolze A, et al. Science. 2013 May 24;340(6135):976-8. doi: 10.1126/science.1234864. Epub 2013 Apr 11. Science. 2013. PMID: 23579497 Free PMC article.
296 results