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Page 1
Stearoyl-CoA desaturase inhibition is toxic to acute myeloid leukemia displaying high levels of the de novo fatty acid biosynthesis and desaturation.
Dembitz V, Lawson H, Burt R, Natani S, Philippe C, James SC, Atkinson S, Durko J, Wang LM, Campos J, Magee AMS, Woodley K, Austin MJ, Rio-Machin A, Casado P, Bewicke-Copley F, Rodriguez Blanco G, Pereira-Martins D, Oudejans L, Boet E, von Kriegsheim A, Schwaller J, Finch AJ, Patel B, Sarry JE, Tamburini J, Schuringa JJ, Hazlehurst L, Copland Iii JA, Yuneva M, Peck B, Cutillas P, Fitzgibbon J, Rouault-Pierre K, Kranc K, Gallipoli P. Dembitz V, et al. Among authors: rio machin a. Leukemia. 2024 Nov;38(11):2395-2409. doi: 10.1038/s41375-024-02390-9. Epub 2024 Aug 26. Leukemia. 2024. PMID: 39187579 Free PMC article.
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Homan CC, Drazer MW, Yu K, Lawrence DM, Feng J, Arriola-Martinez L, Pozsgai MJ, McNeely KE, Ha T, Venugopal P, Arts P, King-Smith SL, Cheah J, Armstrong M, Wang P, Bödör C, Cantor AB, Cazzola M, Degelman E, DiNardo CD, Duployez N, Favier R, Fröhling S, Rio-Machin A, Klco JM, Krämer A, Kurokawa M, Lee J, Malcovati L, Morgan NV, Natsoulis G, Owen C, Patel KP, Preudhomme C, Raslova H, Rienhoff H, Ripperger T, Schulte R, Tawana K, Velloso E, Yan B, Kim E, Sood R, Hsu AP, Holland SM, Phillips K, Poplawski NK, Babic M, Wei AH, Forsyth C, Mar Fan H, Lewis ID, Cooney J, Susman R, Fox LC, Blombery P, Singhal D, Hiwase D, Phipson B, Schreiber AW, Hahn CN, Scott HS, Liu P, Godley LA, Brown AL; NISC Comparative Sequencing Program. Homan CC, et al. Among authors: rio machin a. Blood Adv. 2023 Oct 24;7(20):6092-6107. doi: 10.1182/bloodadvances.2023010045. Blood Adv. 2023. PMID: 37406166 Free PMC article.
Integrative phosphoproteomics defines two biologically distinct groups of KMT2A rearranged acute myeloid leukaemia with different drug response phenotypes.
Casado P, Rio-Machin A, Miettinen JJ, Bewicke-Copley F, Rouault-Pierre K, Krizsan S, Parsons A, Rajeeve V, Miraki-Moud F, Taussig DC, Bödör C, Gribben J, Heckman C, Fitzgibbon J, Cutillas PR. Casado P, et al. Among authors: rio machin a. Signal Transduct Target Ther. 2023 Feb 27;8(1):80. doi: 10.1038/s41392-022-01288-1. Signal Transduct Target Ther. 2023. PMID: 36843114 Free PMC article.
Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar and the NHS England Haematological Oncology Working Group.
Speight B, Hanson H, Turnbull C, Hardy S, Drummond J, Khorashad J, Wragg C, Page P, Parkin NW, Rio-Machin A, Fitzgibbon J, Kulasekararaj AG, Hamblin A, Talley P, McVeigh TP, Snape K; Consensus Meeting Attendees. Speight B, et al. Among authors: rio machin a. Br J Haematol. 2023 Apr;201(1):25-34. doi: 10.1111/bjh.18675. Epub 2023 Feb 6. Br J Haematol. 2023. PMID: 36744544
The transcription factor DDIT3 is a potential driver of dyserythropoiesis in myelodysplastic syndromes.
Berastegui N, Ainciburu M, Romero JP, Garcia-Olloqui P, Alfonso-Pierola A, Philippe C, Vilas-Zornoza A, San Martin-Uriz P, Ruiz-Hernández R, Abarrategi A, Ordoñez R, Alignani D, Sarvide S, Castro-Labrador L, Lamo-Espinosa JM, San-Julian M, Jimenez T, López-Cadenas F, Muntion S, Sanchez-Guijo F, Molero A, Montoro MJ, Tazón B, Serrano G, Diaz-Mazkiaran A, Hernaez M, Huerga S, Bewicke-Copley F, Rio-Machin A, Maurano MT, Díez-Campelo M, Valcarcel D, Rouault-Pierre K, Lara-Astiaso D, Ezponda T, Prosper F. Berastegui N, et al. Among authors: rio machin a. Nat Commun. 2022 Dec 9;13(1):7619. doi: 10.1038/s41467-022-35192-7. Nat Commun. 2022. PMID: 36494342 Free PMC article.
Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment.
Armes H, Bewicke-Copley F, Rio-Machin A, Di Bella D, Philippe C, Wozniak A, Tummala H, Wang J, Ezponda T, Prosper F, Dokal I, Vulliamy T, Kilpivaara O, Wartiovaara-Kautto U, Fitzgibbon J, Rouault-Pierre K. Armes H, et al. Among authors: rio machin a. Br J Haematol. 2022 Dec;199(5):754-764. doi: 10.1111/bjh.18466. Epub 2022 Sep 26. Br J Haematol. 2022. PMID: 36156210 Free PMC article.
DDX41: the poster child for familial AML.
Rio-Machin A, Fitzgibbon J. Rio-Machin A, et al. Blood. 2022 Aug 18;140(7):667-669. doi: 10.1182/blood.2022016598. Blood. 2022. PMID: 35980681 Free article. No abstract available.
34 results