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CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.
Martin E, Palmic N, Sanquer S, Lenoir C, Hauck F, Mongellaz C, Fabrega S, Nitschké P, Esposti MD, Schwartzentruber J, Taylor N, Majewski J, Jabado N, Wynn RF, Picard C, Fischer A, Arkwright PD, Latour S. Martin E, et al. Among authors: wynn rf. Nature. 2014 Jun 12;510(7504):288-92. doi: 10.1038/nature13386. Epub 2014 May 28. Nature. 2014. PMID: 24870241 Free PMC article.
Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation.
Martin E, Minet N, Boschat AC, Sanquer S, Sobrino S, Lenoir C, de Villartay JP, Leite-de-Moraes M, Picard C, Soudais C, Bourne T, Hambleton S, Hughes SM, Wynn RF, Briggs TA; Genomics England Research Consortium; Patel S, Lawrence MG, Fischer A, Arkwright PD, Latour S. Martin E, et al. Among authors: wynn rf. JCI Insight. 2020 Mar 12;5(5):e133880. doi: 10.1172/jci.insight.133880. JCI Insight. 2020. PMID: 32161190 Free PMC article.
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: wynn rf. 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.
Neutrophil dysfunction triggers inflammatory bowel disease in G6PC3 deficiency.
Goenka A, Doherty JA, Al-Farsi T, Jagger C, Banka S, Cheesman E, Fagbemi A, Hughes SM, Wynn RF, Hussell T, Arkwright PD. Goenka A, et al. Among authors: wynn rf. J Leukoc Biol. 2021 Jun;109(6):1147-1154. doi: 10.1002/JLB.5AB1219-699RR. Epub 2020 Sep 15. J Leukoc Biol. 2021. PMID: 32930428
207 results