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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Küry S, Ebstein F, Mollé A, Besnard T, Lee MK, Vignard V, Hery T, Nizon M, Mancini GMS, Giltay JC, Cogné B, McWalter K, Deb W, Mor-Shaked H, Li H, Schnur RE, Wentzensen IM, Denommé-Pichon AS, Fourgeux C, Verheijen FW, Faurie E, Schot R, Stevens CA, Smits DJ, Barr E, Sheffer R, Bernstein JA, Stimach CL, Kovitch E, Shashi V, Schoch K, Smith W, van Jaarsveld RH, Hurst ACE, Smith K, Baugh EH, Bohm SG, Vyhnálková E, Ryba L, Delnatte C, Neira J, Bonneau D, Toutain A, Rosenfeld JA; Undiagnosed Diseases Network; Audebert-Bellanger S, Gilbert-Dussardier B, Odent S, Laumonnier F, Berger SI, Smith ACM, Bourdeaut F, Stern MH, Redon R, Krüger E, Margueron R, Bézieau S, Poschmann J, Isidor B. Küry S, et al. Among authors: poschmann j. Am J Hum Genet. 2022 Feb 3;109(2):361-372. doi: 10.1016/j.ajhg.2021.12.011. Epub 2022 Jan 19. Am J Hum Genet. 2022. PMID: 35051358 Free PMC article.
Characterization of Rat ILCs Reveals ILC2 as the Dominant Intestinal Subset.
Abidi A, Laurent T, Bériou G, Bouchet-Delbos L, Fourgeux C, Louvet C, Triki-Marrakchi R, Poschmann J, Josien R, Martin J. Abidi A, et al. Among authors: poschmann j. Front Immunol. 2020 Feb 19;11:255. doi: 10.3389/fimmu.2020.00255. eCollection 2020. Front Immunol. 2020. PMID: 32140157 Free PMC article.
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Latypova X, Vincent M, Mollé A, Adebambo OA, Fourgeux C, Khan TN, Caro A, Rosello M, Orellana C, Niyazov D, Lederer D, Deprez M, Capri Y, Kannu P, Tabet AC, Levy J, Aten E, den Hollander N, Splitt M, Walia J, Immken LL, Stankiewicz P, McWalter K, Suchy S, Louie RJ, Bell S, Stevenson RE, Rousseau J, Willem C, Retiere C, Yang XJ, Campeau PM, Martinez F, Rosenfeld JA, Le Caignec C, Küry S, Mercier S, Moradkhani K, Conrad S, Besnard T, Cogné B, Katsanis N, Bézieau S, Poschmann J, Davis EE, Isidor B. Latypova X, et al. Among authors: poschmann j. Am J Hum Genet. 2021 May 6;108(5):929-941. doi: 10.1016/j.ajhg.2021.03.017. Epub 2021 Apr 2. Am J Hum Genet. 2021. PMID: 33811806 Free PMC article.
Monocyte Signature Associated with Herpes Simplex Virus Reactivation and Neurological Recovery after Brain Injury.
Chaumette T, Cinotti R, Mollé A, Solomon P, Castain L, Fourgeux C, McWilliam HEG, Misme-Aucouturier B, Broquet A, Jacqueline C, Vourc'h M, Fradin D, Bossard C, David L, Montassier E, Braudeau C, Josien R, Villadangos JA, Asehnoune K, Bressollette-Bodin C, Poschmann J, Roquilly A. Chaumette T, et al. Among authors: poschmann j. Am J Respir Crit Care Med. 2022 Aug 1;206(3):295-310. doi: 10.1164/rccm.202110-2324OC. Am J Respir Crit Care Med. 2022. PMID: 35486851
Deciphering Transcriptional Networks during Human Cardiac Development.
Canac R, Cimarosti B, Girardeau A, Forest V, Olchesqui P, Poschmann J, Redon R, Lemarchand P, Gaborit N, Lamirault G. Canac R, et al. Among authors: poschmann j. Cells. 2022 Dec 3;11(23):3915. doi: 10.3390/cells11233915. Cells. 2022. PMID: 36497174 Free PMC article.
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Küry S, Stanton JE, van Woerden G, Hsieh TC, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel F, Möller S, Florenceau L, Cuinat S, Marsac S, Wentzensen I, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter M, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson L, Costin C, Jobling RK, Pappas J, Rabin R, Niyazov D, Tsai AC, Kovak K, Beck DB, Malicdan M, Adams DR, Wolfe L, Ganetzky RD, Muraresku C, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Al Saif H, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton M, Bryson L, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropoulos A, Garganis K, Rio M, Levy J, Jurgensmeyer S, McRae AM, Lessard MK, D'Agostino MD, De Bie I, We… See abstract for full author list ➔ Küry S, et al. Among authors: poschmann j. medRxiv [Preprint]. 2024 Jan 26:2024.01.13.24301174. doi: 10.1101/2024.01.13.24301174. medRxiv. 2024. PMID: 38293138 Free PMC article. Preprint.
Genome-wide DNA methylation profiling identifies convergent molecular signatures associated with idiopathic and syndromic autism in post-mortem human brain tissue.
Wong CCY, Smith RG, Hannon E, Ramaswami G, Parikshak NN, Assary E, Troakes C, Poschmann J, Schalkwyk LC, Sun W, Prabhakar S, Geschwind DH, Mill J. Wong CCY, et al. Among authors: poschmann j. Hum Mol Genet. 2019 Jul 1;28(13):2201-2211. doi: 10.1093/hmg/ddz052. Hum Mol Genet. 2019. PMID: 31220268 Free PMC article.
Alveolar macrophages are epigenetically altered after inflammation, leading to long-term lung immunoparalysis.
Roquilly A, Jacqueline C, Davieau M, Mollé A, Sadek A, Fourgeux C, Rooze P, Broquet A, Misme-Aucouturier B, Chaumette T, Vourc'h M, Cinotti R, Marec N, Gauttier V, McWilliam HEG, Altare F, Poschmann J, Villadangos JA, Asehnoune K. Roquilly A, et al. Among authors: poschmann j. Nat Immunol. 2020 Jun;21(6):636-648. doi: 10.1038/s41590-020-0673-x. Epub 2020 May 18. Nat Immunol. 2020. PMID: 32424365
Author Correction: Alveolar macrophages are epigenetically altered after inflammation, leading to long-term lung immunoparalysis.
Roquilly A, Jacqueline C, Davieau M, Mollé A, Sadek A, Fourgeux C, Rooze P, Broquet A, Misme-Aucouturier B, Chaumette T, Vourc'h M, Cinotti R, Marec N, Gauttier V, McWilliam HEG, Altare F, Poschmann J, Villadangos JA, Asehnoune K. Roquilly A, et al. Among authors: poschmann j. Nat Immunol. 2020 Aug;21(8):962. doi: 10.1038/s41590-020-0739-9. Nat Immunol. 2020. PMID: 32581370
Dendritic Cells Require TMEM176A/B Ion Channels for Optimal MHC Class II Antigen Presentation to Naive CD4+ T Cells.
Lancien M, Bienvenu G, Salle S, Gueno L, Feyeux M, Merieau E, Remy S, Even A, Moreau A, Molle A, Fourgeux C, Coulon F, Beriou G, Bouchet-Delbos L, Chiffoleau E, Kirstetter P, Chan S, Kerfoot SM, Abdu Rahiman S, De Simone V, Matteoli G, Boncompain G, Perez F, Josien R, Poschmann J, Cuturi MC, Louvet C. Lancien M, et al. Among authors: poschmann j. J Immunol. 2021 Jul 15;207(2):421-435. doi: 10.4049/jimmunol.2000498. Epub 2021 Jul 7. J Immunol. 2021. PMID: 34233909 Free article.
43 results