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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. 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.
Acquired somatic variants in inherited myeloid malignancies.
Armes H, Rio-Machin A, Krizsán S, Bödör C, Kaya F, Bewicke-Copley F, Alnajar J, Walne A, Péterffy B, Tummala H, Rouault-Pierre K, Dokal I, Vulliamy T, Fitzgibbon J. Armes H, et al. Leukemia. 2022 May;36(5):1377-1381. doi: 10.1038/s41375-022-01515-2. Epub 2022 Feb 9. Leukemia. 2022. PMID: 35140362 Free PMC article. No abstract available.
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: rouault pierre k. Nat Commun. 2022 Dec 9;13(1):7619. doi: 10.1038/s41467-022-35192-7. Nat Commun. 2022. PMID: 36494342 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: rouault pierre k. 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.
Vitamin B5 and succinyl-CoA improve ineffective erythropoiesis in SF3B1-mutated myelodysplasia.
Mian SA, Philippe C, Maniati E, Protopapa P, Bergot T, Piganeau M, Nemkov T, Di Bella D, Morales V, Finch AJ, D'Alessandro A, Bianchi K, Wang J, Gallipoli P, Kordasti S, Kubasch AS, Cross M, Platzbecker U, Wiseman DH, Bonnet D, Bernard DG, Gribben JG, Rouault-Pierre K. Mian SA, et al. Among authors: rouault pierre k. Sci Transl Med. 2023 Mar;15(685):eabn5135. doi: 10.1126/scitranslmed.abn5135. Epub 2023 Mar 1. Sci Transl Med. 2023. PMID: 36857430 Free PMC article.
Mannose metabolism inhibition sensitizes acute myeloid leukaemia cells to therapy by driving ferroptotic cell death.
Woodley K, Dillingh LS, Giotopoulos G, Madrigal P, Rattigan KM, Philippe C, Dembitz V, Magee AMS, Asby R, van de Lagemaat LN, Mapperley C, James SC, Prehn JHM, Tzelepis K, Rouault-Pierre K, Vassiliou GS, Kranc KR, Helgason GV, Huntly BJP, Gallipoli P. Woodley K, et al. Among authors: rouault pierre k. Nat Commun. 2023 Apr 14;14(1):2132. doi: 10.1038/s41467-023-37652-0. Nat Commun. 2023. PMID: 37059720 Free PMC article.
37 results