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TTC7A mutations disrupt intestinal epithelial apicobasal polarity.
Bigorgne AE, Farin HF, Lemoine R, Mahlaoui N, Lambert N, Gil M, Schulz A, Philippet P, Schlesser P, Abrahamsen TG, Oymar K, Davies EG, Ellingsen CL, Leteurtre E, Moreau-Massart B, Berrebi D, Bole-Feysot C, Nischke P, Brousse N, Fischer A, Clevers H, de Saint Basile G. Bigorgne AE, et al. Among authors: gil m. J Clin Invest. 2014 Jan;124(1):328-37. doi: 10.1172/JCI71471. J Clin Invest. 2014. PMID: 24292712 Free PMC article.
SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling.
Hauck F, Blumenthal B, Fuchs S, Lenoir C, Martin E, Speckmann C, Vraetz T, Mannhardt-Laakmann W, Lambert N, Gil M, Borte S, Audrain M, Schwarz K, Lim A, Schamel WW, Fischer A, Ehl S, Rensing-Ehl A, Picard C, Latour S. Hauck F, et al. Among authors: gil m. Clin Immunol. 2015 Dec;161(2):103-9. doi: 10.1016/j.clim.2015.07.002. Epub 2015 Jul 14. Clin Immunol. 2015. PMID: 26187144
Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure.
El-Daher MT, Cagnard N, Gil M, Da Cruz MC, Leveau C, Sepulveda F, Zarhrate M, Tores F, Legoix P, Baulande S, de Villartay JP, Almouzni G, Quivy JP, Fischer A, de Saint Basile G. El-Daher MT, et al. Among authors: gil m. Cell Discov. 2018 Nov 13;4:61. doi: 10.1038/s41421-018-0061-y. eCollection 2018. Cell Discov. 2018. PMID: 30455981 Free PMC article.
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.
Li Y, Führer M, Bahrami E, Socha P, Klaudel-Dreszler M, Bouzidi A, Liu Y, Lehle AS, Magg T, Hollizeck S, Rohlfs M, Conca R, Field M, Warner N, Mordechai S, Shteyer E, Turner D, Boukari R, Belbouab R, Walz C, Gaidt MM, Hornung V, Baumann B, Pannicke U, Al Idrissi E, Ali Alghamdi H, Sepulveda FE, Gil M, de Saint Basile G, Hönig M, Koletzko S, Muise AM, Snapper SB, Schwarz K, Klein C, Kotlarz D. Li Y, et al. Among authors: gil m. Proc Natl Acad Sci U S A. 2019 Jan 15;116(3):970-975. doi: 10.1073/pnas.1813582116. Epub 2018 Dec 27. Proc Natl Acad Sci U S A. 2019. PMID: 30591564 Free PMC article.
Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.
Fusaro M, Rosain J, Grandin V, Lambert N, Hanein S, Fourrage C, Renaud N, Gil M, Chevalier S, Chahla WA, Bader-Meunier B, Barlogis V, Blanche S, Boutboul D, Castelle M, Comont T, Diana JS, Fieschi C, Galicier L, Hermine O, Lefèvre-Utile A, Malphettes M, Merlin E, Oksenhendler E, Pasquet M, Suarez F, André I, Béziat V, De Saint Basile G, De Villartay JP, Kracker S, Lagresle-Peyrou C, Latour S, Rieux-Laucat F, Mahlaoui N, Bole C, Nitschke P, Hulier-Ammar E, Fischer A, Moshous D, Neven B, Alcais A, Vogt G, Bustamante J, Picard C. Fusaro M, et al. Among authors: gil m. J Allergy Clin Immunol. 2021 Feb;147(2):734-737. doi: 10.1016/j.jaci.2020.05.046. Epub 2020 Jun 10. J Allergy Clin Immunol. 2021. PMID: 32531373 No abstract available.
Severe adult hemophagocytic lymphohistiocytosis (HLHa) correlates with HLH-related gene variants.
Bloch C, Jais JP, Gil M, Boubaya M, Lepelletier Y, Bader-Meunier B, Mahlaoui N, Garcelon N, Lambotte O, Launay D, Larroche C, Lazaro E, Liffermann F, Lortholary O, Michel M, Michot JM, Morel P, Cheminant M, Suarez F, Terriou L, Urbanski G, Viallard JF, Alcais A, Fischer A, de Saint Basile G, Hermine O; French HLH Study Group. Bloch C, et al. Among authors: gil m. J Allergy Clin Immunol. 2024 Jan;153(1):256-264. doi: 10.1016/j.jaci.2023.07.023. Epub 2023 Sep 9. J Allergy Clin Immunol. 2024. PMID: 37678575 Free article.
Three-year outcomes of vascular endothelial growth factor inhibitors in naïve branch retinal vein occlusion: Fight Retinal Blindness!
Alforja S, Hunt A, Nguyen V, O'Toole L, Gabrielle PH, Invernizzi A, Mehta H, Ponsioen TL, Squirrell D, Casaroli-Marano RP, Barthelmes D, Gillies MC, Zarranz-Ventura J; Fight Retinal Blindness (FRB) users group. Alforja S, et al. Ophthalmol Retina. 2024 Apr 17:S2468-6530(24)00189-1. doi: 10.1016/j.oret.2024.04.014. Online ahead of print. Ophthalmol Retina. 2024. PMID: 38641007
1,913 results