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Träfflista för sökning "WFRF:(Wolthers B. O.) srt2:(2018)"

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1.	Goetghebuer, T, et al. (author) Time to Switch to Second-line Antiretroviral Therapy in Children With Human Immunodeficiency Virus in Europe and Thailand 2018 In: Clinical infectious diseases : an official publication of the Infectious Diseases Society of America. - : Oxford University Press (OUP). - 1537-6591. ; 66:4, s. 594-603 Journal article (peer-reviewed)
2.	Tulstrup, M., et al. (author) NT5C2 germline variants alter thiopurine metabolism and are associated with acquired NT5C2 relapse mutations in childhood acute lymphoblastic leukaemia 2018 In: Leukemia. - : Springer Science and Business Media LLC. - 0887-6924 .- 1476-5551. ; 32:12, s. 2527-2535 Journal article (peer-reviewed)abstract The antileukaemic drug 6-mercaptopurine is converted into thioguanine nucleotides (TGN) and incorporated into DNA (DNA-TG), the active end metabolite. In a series of genome-wide association studies, we analysed time-weighted means ((wm)) of erythrocyte concentrations of TGN (Ery-TGN) and DNA-TG in 1009 patients undergoing maintenance therapy for acute lymphoblastic leukaemia (ALL). In discovery analyses (454 patients), the propensity for DNA-TG incorporation ((wm)DNA-TG/(wm)Ery-TGN ratio) was significantly associated with three intronic SNPs in NT5C2 (top hit: rs72846714; P - 2.09 x 10(-10), minor allele frequency 15%). In validation analyses (555 patients), this association remained significant during both early and late maintenance therapy (P - 8.4 x 10(-6) and 1.3 x 10(-3), respectively). The association was mostly driven by differences in (wm)Ery-TGN, but in regression analyses adjusted for wmEry-TGN (P < 0.0001), rs72846714-A genotype was also associated with a higher (wm)DNA-TG (P - 0.029). Targeted sequencing of NT5C2 did not identify any missense variants associated with rs72846714 or (wm)Ery-TGN/(wm)DNA-TG. rs72846714 was not associated with relapse risk, but in a separate cohort of 180 children with relapsed ALL, rs72846714-A genotype was associated with increased occurrence of relapse-specific NT5C2 gain-of-function mutations that reduce cytosol TGN levels (P = 0.03). These observations highlight the impact of both germline and acquired mutations in drug metabolism and disease trajectory.
3.	Harvala, H, et al. (author) Recommendations for enterovirus diagnostics and characterisation within and beyond Europe 2018 In: Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology. - : Elsevier BV. - 1873-5967. ; 101, s. 11-17 Journal article (peer-reviewed)

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Type of publication: journal article (3)

Type of content: peer-reviewed (3)

Author/Editor: Giacomet, V (1); Maccabruni, A (1); Mur, A (1); Marczynska, M (1); Wyler, CA (1); Rudin, C (1); show more...; Duppenthaler, A (1); Moreno, D. (1); Schmid, P. (1); Martin, J. (1); Gupta, R. (1); Perez, C. (1); Harila-Saari, Arja H ... (1); Weber, R. (1); Cross, R. (1); Alvarez, C. (1); Jones, R. (1); Lewis, P. (1); Pantaleo, G (1); Freeman, A (1); Evans, J. (1); Moore, C. (1); Levine, M (1); Boucher, CAB (1); Romano, A (1); Abrahamsson, Jonas, ... (1); Zhang, Z. Y. (1); Eisenhut, M (1); Gibb, DM (1); Harper, L (1); Notheis, G (1); Butler, K (1); Mazza, A (1); Cellini, M (1); Lyall, H (1); Novelli, V (1); Sharland, M (1); Sloper, K (1); Reiss, P (1); Hoffmann, M. (1); Roy, PK (1); Gopal, G. (1); Mendez, M (1); Simmonds, P (1); Fernandes, A (1); Wang, J. H. (1); van Rossum, AMC (1); Finn, A (1); Garzon, M (1); Scott, D. (1); show less...

University: Karolinska Institutet (2); University of Gothenburg (1); Uppsala University (1)

Language: English (3)

Research subject (UKÄ/SCB): Medical and Health Sciences (2)

Year: 2018 (3)Undo refine

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