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Page 1
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Among authors: thrasher aj. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Gene silencing dynamics are modulated by transiently active regulatory elements.
Vermunt MW, Luan J, Zhang Z, Thrasher AJ, Huang A, Saari MS, Khandros E, Beagrie RA, Zhang S, Vemulamada P, Brilleman M, Lee K, Yano JA, Giardine BM, Keller CA, Hardison RC, Blobel GA. Vermunt MW, et al. Among authors: thrasher aj. Mol Cell. 2023 Mar 2;83(5):715-730.e6. doi: 10.1016/j.molcel.2023.02.006. Mol Cell. 2023. PMID: 36868189 Free PMC article.
Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.
Blanco E, Camps C, Bahal S, Kerai MD, Ferla MP, Rochussen AM, Handel AE, Golwala ZM, Spiridou Goncalves H, Kricke S, Klein F, Zhang F, Zinghirino F, Evans G, Keane TM, Lizot S, Kusters MAA, Iro MA, Patel SV, Morris EC, Burns SO, Radcliffe R, Vasudevan P, Price A, Gillham O, Valdebenito GE, Stewart GS, Worth A, Adams SP, Duchen M, André I, Adams DJ, Santili G, Gilmour KC, Holländer GA, Davies EG, Taylor JC, Griffiths GM, Thrasher AJ, Dhalla F, Kreins AY. Blanco E, et al. Among authors: thrasher aj. J Exp Med. 2025 Jan 6;222(1):e20220979. doi: 10.1084/jem.20220979. Epub 2024 Nov 19. J Exp Med. 2025. PMID: 39560673
Betibeglogene autotemcel gene therapy in patients with transfusion-dependent, severe genotype β-thalassaemia (HGB-212): a non-randomised, multicentre, single-arm, open-label, single-dose, phase 3 trial.
Kwiatkowski JL, Walters MC, Hongeng S, Yannaki E, Kulozik AE, Kunz JB, Sauer MG, Thrasher AJ, Thuret I, Lal A, Tao G, Ali S, Thakar HL, Elliot H, Lodaya A, Lee J, Colvin RA, Locatelli F, Thompson AA. Kwiatkowski JL, et al. Among authors: thrasher aj. Lancet. 2024 Nov 8:S0140-6736(24)01884-1. doi: 10.1016/S0140-6736(24)01884-1. Online ahead of print. Lancet. 2024. PMID: 39527960
Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.
Eichler F, Duncan CN, Musolino PL, Lund TC, Gupta AO, De Oliveira S, Thrasher AJ, Aubourg P, Kühl JS, Loes DJ, Amartino H, Smith N, Folloni Fernandes J, Sevin C, Sankar R, Hussain SA, Gissen P, Dalle JH, Platzbecker U, Downey GF, McNeil E, Demopoulos L, Dietz AC, Thakar HL, Orchard PJ, Williams DA. Eichler F, et al. Among authors: thrasher aj. N Engl J Med. 2024 Oct 10;391(14):1302-1312. doi: 10.1056/NEJMoa2400442. N Engl J Med. 2024. PMID: 39383459 Clinical Trial.
Valproic Acid Confers Functional Pluripotency to Human Amniotic Fluid Stem Cells in a Transgene-free Approach.
Moschidou D, Mukherjee S, Blundell MP, Drews K, Jones GN, Abdulrazzak H, Nowakowska B, Phoolchund A, Lay K, Ramasamy TS, Cananzi M, Nettersheim D, Sullivan M, Frost J, Moore G, Vermeesch JR, Fisk NM, Thrasher AJ, Atala A, Adjaye J, Schorle H, De Coppi P, Guillot PV. Moschidou D, et al. Among authors: thrasher aj. Mol Ther. 2024 Aug 7;32(8):2798. doi: 10.1016/j.ymthe.2024.06.015. Epub 2024 Jun 20. Mol Ther. 2024. PMID: 39122329 Free article. No abstract available.
Interleukin-1 blockade in patients with Wiskott-Aldrich syndrome: a retrospective multinational case series.
Naviglio S, Cicalese MP, Rivers E, Ferrua F, Bonfim C, Cenciarelli S, Cheong KN, Faraci M, Giardino S, Ghosh S, Lee PP, Lyra PT, Meisel R, Sofia V, Tessitore A, Tommasini A, Valencic E, Vallée TC, Volpi S, Worth AJ, Rabusin M, Albert MH, Thrasher AJ, Aiuti A. Naviglio S, et al. Among authors: thrasher aj. Blood. 2024 Oct 17;144(16):1699-1704. doi: 10.1182/blood.2024024524. Blood. 2024. PMID: 39046813
Anti-CD45 PBD-based antibody-drug conjugates are effective targeted conditioning agents for gene therapy and stem cell transplant.
Yeung J, Liao A, Shaw M, Silva S, Vetharoy W, Rico DL, Kirby I, Zammarchi F, Havenith K, de Haan L, van Berkel PH, Sebire N, Ogunbiyi OK, Booth C, Gaspar HB, Thrasher AJ, Chester KA, Amrolia PJ. Yeung J, et al. Among authors: thrasher aj. Mol Ther. 2024 Jun 5;32(6):1672-1686. doi: 10.1016/j.ymthe.2024.03.032. Epub 2024 Mar 27. Mol Ther. 2024. PMID: 38549377
Hematopoietic stem cell gene editing rescues B-cell development in X-linked agammaglobulinemia.
Bahal S, Zinicola M, Moula SE, Whittaker TE, Schejtman A, Naseem A, Blanco E, Vetharoy W, Hu YT, Rai R, Gomez-Castaneda E, Cunha-Santos C, Burns SO, Morris EC, Booth C, Turchiano G, Cavazza A, Thrasher AJ, Santilli G. Bahal S, et al. Among authors: thrasher aj. J Allergy Clin Immunol. 2024 Jul;154(1):195-208.e8. doi: 10.1016/j.jaci.2024.03.003. Epub 2024 Mar 11. J Allergy Clin Immunol. 2024. PMID: 38479630 Free article.
419 results