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Genomic profiling of acute myeloid leukaemia associated with ataxia telangiectasia identifies a complex karyotype with wild-type TP53 and mutant KRAS, G3BP1 and IL7R.
Goldgraben MA, Fewings E, Larionov A, Scarth J, Redman J, Telford N, Arkwright PD, Bonney D, Wilks D, Kulkarni S, Taylor AMR, Tischkowitz MD, Meyer S. Goldgraben MA, et al. Among authors: arkwright pd. Pediatr Blood Cancer. 2020 Sep;67(9):e28354. doi: 10.1002/pbc.28354. Epub 2020 May 8. Pediatr Blood Cancer. 2020. PMID: 32383811 No abstract available.
Hematopoietic stem cell transplantation for cytidine triphosphate synthase 1 (CTPS1) deficiency.
Nademi Z, Wynn RF, Slatter M, Hughes SM, Bonney D, Qasim W, Latour S, Trück J, Patel S, Abinun M, Flood T, Hambleton S, Cant AJ, Gennery AR, Arkwright PD. Nademi Z, et al. Among authors: arkwright pd. Bone Marrow Transplant. 2019 Jan;54(1):130-133. doi: 10.1038/s41409-018-0246-x. Epub 2018 Jun 8. Bone Marrow Transplant. 2019. PMID: 29884857 No abstract available.
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.
Zielen S, Duecker RP, Woelke S, Donath H, Bakhtiar S, Buecker A, Kreyenberg H, Huenecke S, Bader P, Mahlaoui N, Ehl S, El-Helou SM, Pietrucha B, Plebani A, van der Flier M, van Aerde K, Kilic SS, Reda SM, Kostyuchenko L, McDermott E, Galal N, Pignata C, Pérez JLS, Laws HJ, Niehues T, Kutukculer N, Seidel MG, Marques L, Ciznar P, Edgar JDM, Soler-Palacín P, von Bernuth H, Krueger R, Meyts I, Baumann U, Kanariou M, Grimbacher B, Hauck F, Graf D, Granado LIG, Prader S, Reisli I, Slatter M, Rodríguez-Gallego C, Arkwright PD, Bethune C, Deripapa E, Sharapova SO, Lehmberg K, Davies EG, Schuetz C, Kindle G, Schubert R. Zielen S, et al. Among authors: arkwright pd. J Clin Immunol. 2021 Nov;41(8):1878-1892. doi: 10.1007/s10875-021-01090-8. Epub 2021 Sep 3. J Clin Immunol. 2021. PMID: 34477998 Free PMC article. Clinical Trial.
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.
Völkl S, Rensing-Ehl A, Allgäuer A, Schreiner E, Lorenz MR, Rohr J, Klemann C, Fuchs I, Schuster V, von Bueren AO, Naumann-Bartsch N, Gambineri E, Siepermann K, Kobbe R, Nathrath M, Arkwright PD, Miano M, Stachel KD, Metzler M, Schwarz K, Kremer AN, Speckmann C, Ehl S, Mackensen A. Völkl S, et al. Among authors: arkwright pd. Blood. 2016 Jul 14;128(2):227-38. doi: 10.1182/blood-2015-11-685024. Epub 2016 Apr 20. Blood. 2016. PMID: 27099149 Free article. Clinical Trial.
Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations.
Hou TZ, Verma N, Wanders J, Kennedy A, Soskic B, Janman D, Halliday N, Rowshanravan B, Worth A, Qasim W, Baxendale H, Stauss H, Seneviratne S, Neth O, Olbrich P, Hambleton S, Arkwright PD, Burns SO, Walker LS, Sansom DM. Hou TZ, et al. Among authors: arkwright pd. Blood. 2017 Mar 16;129(11):1458-1468. doi: 10.1182/blood-2016-10-745174. Epub 2017 Feb 3. Blood. 2017. PMID: 28159733 Free PMC article.
IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts.
Berglund LJ, Avery DT, Ma CS, Moens L, Deenick EK, Bustamante J, Boisson-Dupuis S, Wong M, Adelstein S, Arkwright PD, Bacchetta R, Bezrodnik L, Dadi H, Roifman CM, Fulcher DA, Ziegler JB, Smart JM, Kobayashi M, Picard C, Durandy A, Cook MC, Casanova JL, Uzel G, Tangye SG. Berglund LJ, et al. Among authors: arkwright pd. Blood. 2013 Dec 5;122(24):3940-50. doi: 10.1182/blood-2013-06-506865. Epub 2013 Oct 24. Blood. 2013. PMID: 24159173 Free PMC article.
206 results