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Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency.
Sancho-Shimizu V, Pérez de Diego R, Lorenzo L, Halwani R, Alangari A, Israelsson E, Fabrega S, Cardon A, Maluenda J, Tatematsu M, Mahvelati F, Herman M, Ciancanelli M, Guo Y, AlSum Z, Alkhamis N, Al-Makadma AS, Ghadiri A, Boucherit S, Plancoulaine S, Picard C, Rozenberg F, Tardieu M, Lebon P, Jouanguy E, Rezaei N, Seya T, Matsumoto M, Chaussabel D, Puel A, Zhang SY, Abel L, Al-Muhsen S, Casanova JL. Sancho-Shimizu V, et al. Among authors: fabrega s. J Clin Invest. 2011 Dec;121(12):4889-902. doi: 10.1172/JCI59259. Epub 2011 Nov 21. J Clin Invest. 2011. PMID: 22105173 Free PMC article.
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.
Martin E, Palmic N, Sanquer S, Lenoir C, Hauck F, Mongellaz C, Fabrega S, Nitschké P, Esposti MD, Schwartzentruber J, Taylor N, Majewski J, Jabado N, Wynn RF, Picard C, Fischer A, Arkwright PD, Latour S. Martin E, et al. Among authors: fabrega s. Nature. 2014 Jun 12;510(7504):288-92. doi: 10.1038/nature13386. Epub 2014 May 28. Nature. 2014. PMID: 24870241 Free PMC article.
The tetraspanin CD9 controls migration and proliferation of parietal epithelial cells and glomerular disease progression.
Lazareth H, Henique C, Lenoir O, Puelles VG, Flamant M, Bollée G, Fligny C, Camus M, Guyonnet L, Millien C, Gaillard F, Chipont A, Robin B, Fabrega S, Dhaun N, Camerer E, Kretz O, Grahammer F, Braun F, Huber TB, Nochy D, Mandet C, Bruneval P, Mesnard L, Thervet E, Karras A, Le Naour F, Rubinstein E, Boucheix C, Alexandrou A, Moeller MJ, Bouzigues C, Tharaux PL. Lazareth H, et al. Among authors: fabrega s. Nat Commun. 2019 Jul 24;10(1):3303. doi: 10.1038/s41467-019-11013-2. Nat Commun. 2019. PMID: 31341160 Free PMC article.
Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia.
Colin E, Courtois G, Brouzes C, Pulman J, Rabant M, Rötig A, Taffin H, Lion-Lambert M, Fabrega S, Da Costa L, De Montalembert M, Salomon R, Hermine O, Couronné L. Colin E, et al. Among authors: fabrega s. Haematologica. 2021 Dec 1;106(12):3202-3205. doi: 10.3324/haematol.2021.279138. Haematologica. 2021. PMID: 34407605 Free PMC article. No abstract available.
Changes in chromatin state reveal ARNT2 at a node of a tumorigenic transcription factor signature driving glioblastoma cell aggressiveness.
Bogeas A, Morvan-Dubois G, El-Habr EA, Lejeune FX, Defrance M, Narayanan A, Kuranda K, Burel-Vandenbos F, Sayd S, Delaunay V, Dubois LG, Parrinello H, Rialle S, Fabrega S, Idbaih A, Haiech J, Bièche I, Virolle T, Goodhardt M, Chneiweiss H, Junier MP. Bogeas A, et al. Among authors: fabrega s. Acta Neuropathol. 2018 Feb;135(2):267-283. doi: 10.1007/s00401-017-1783-x. Epub 2017 Nov 17. Acta Neuropathol. 2018. PMID: 29149419 Free PMC article.
32 results