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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Among authors: carpier jm. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Critical role for TRIM28 and HP1β/γ in the epigenetic control of T cell metabolic reprograming and effector differentiation.
Gehrmann U, Burbage M, Zueva E, Goudot C, Esnault C, Ye M, Carpier JM, Burgdorf N, Hoyler T, Suarez G, Joannas L, Heurtebise-Chrétien S, Durand S, Panes R, Bellemare-Pelletier A, Sáez PJ, Aprahamian F, Lefevre D, Adoue V, Zine El Aabidine A, Muhammad Ahmad M, Hivroz C, Joffre O, Cammas F, Kroemer G, Gagnon E, Andrau JC, Amigorena S. Gehrmann U, et al. Among authors: carpier jm. Proc Natl Acad Sci U S A. 2019 Dec 17;116(51):25839-25849. doi: 10.1073/pnas.1901639116. Epub 2019 Nov 27. Proc Natl Acad Sci U S A. 2019. PMID: 31776254 Free PMC article.
Critical role for Sec22b-dependent antigen cross-presentation in antitumor immunity.
Alloatti A, Rookhuizen DC, Joannas L, Carpier JM, Iborra S, Magalhaes JG, Yatim N, Kozik P, Sancho D, Albert ML, Amigorena S. Alloatti A, et al. Among authors: carpier jm. J Exp Med. 2017 Aug 7;214(8):2231-2241. doi: 10.1084/jem.20170229. Epub 2017 Jun 29. J Exp Med. 2017. PMID: 28663435 Free PMC article.
IFT20 controls LAT recruitment to the immune synapse and T-cell activation in vivo.
Vivar OI, Masi G, Carpier JM, Magalhaes JG, Galgano D, Pazour GJ, Amigorena S, Hivroz C, Baldari CT. Vivar OI, et al. Among authors: carpier jm. Proc Natl Acad Sci U S A. 2016 Jan 12;113(2):386-91. doi: 10.1073/pnas.1513601113. Epub 2015 Dec 29. Proc Natl Acad Sci U S A. 2016. PMID: 26715756 Free PMC article.
Toll-like Receptor 4 Engagement on Dendritic Cells Restrains Phago-Lysosome Fusion and Promotes Cross-Presentation of Antigens.
Alloatti A, Kotsias F, Pauwels AM, Carpier JM, Jouve M, Timmerman E, Pace L, Vargas P, Maurin M, Gehrmann U, Joannas L, Vivar OI, Lennon-Duménil AM, Savina A, Gevaert K, Beyaert R, Hoffmann E, Amigorena S. Alloatti A, et al. Among authors: carpier jm. Immunity. 2015 Dec 15;43(6):1087-100. doi: 10.1016/j.immuni.2015.11.006. Immunity. 2015. PMID: 26682983 Free article.
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