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The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.
Choi IY, Ling J, Zhang J, Helmenstine E, Walter W, Bergman R, Philippe C, Manley J, Rouault-Pierre K, Li B, Wiseman D, Ouseph M, Bernard E, Li X, Haferlach T, Fazal S, Jain T, Gocke C, DeZern A, Dalton WB. Choi IY, et al. Among authors: philippe c. Res Sq [Preprint]. 2023 Apr 14:rs.3.rs-2802265. doi: 10.21203/rs.3.rs-2802265/v1. Res Sq. 2023. PMID: 37090662 Free PMC article. Updated. Preprint.
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: philippe c. 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.
The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.
Choi IY, Ling JP, Zhang J, Helmenstine E, Walter W, Tsakiroglou P, Bergman RE, Philippe C, Manley JL, Rouault-Pierre K, Li B, Wiseman DH, Batta K, Ouseph MM, Bernard E, Dubner B, Li X, Haferlach T, Koget A, Fazal S, Jain T, Gocke CD, DeZern AE, Dalton WB. Choi IY, et al. Among authors: philippe c. Blood Adv. 2024 May 17:bloodadvances.2023011260. doi: 10.1182/bloodadvances.2023011260. Online ahead of print. Blood Adv. 2024. PMID: 38759096
ER Stress and Unfolded Protein Response in Leukemia: Friend, Foe, or Both?
Féral K, Jaud M, Philippe C, Di Bella D, Pyronnet S, Rouault-Pierre K, Mazzolini L, Touriol C. Féral K, et al. Among authors: philippe c. Biomolecules. 2021 Jan 30;11(2):199. doi: 10.3390/biom11020199. Biomolecules. 2021. PMID: 33573353 Free PMC article. Review.
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: philippe c. 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.
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: philippe c. Nat Commun. 2022 Dec 9;13(1):7619. doi: 10.1038/s41467-022-35192-7. Nat Commun. 2022. PMID: 36494342 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: philippe c. Nat Commun. 2023 Apr 14;14(1):2132. doi: 10.1038/s41467-023-37652-0. Nat Commun. 2023. PMID: 37059720 Free PMC article.
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).
Viora-Dupont E, Robert F, Chassagne A, Pélissier A, Staraci S, Sanlaville D, Edery P, Lesca G, Putoux A, Pons L, Cadenes A, Baurand A, Sawka C, Bertolone G, Spetchian M, Yousfi M, Salvi D, Gautier E, Vitobello A, Denommé-Pichon AS, Bruel AL, Tran Mau-Them F, Faudet A, Keren B, Labalme A, Chatron N, Abel C, Dupuis-Girod S, Poisson A, Buratti J, Mignot C, Afenjar A, Whalen S, Charles P, Heide S, Mouthon L, Moutton S, Sorlin A, Nambot S, Briffaut AS, Asensio ML, Philippe C, Thauvin-Robinet C, Héron D, Rossi M, Meunier-Bellard N, Gargiulo M, Peyron C, Binquet C, Faivre L. Viora-Dupont E, et al. Among authors: philippe c. Eur J Hum Genet. 2024 May 27. doi: 10.1038/s41431-024-01616-9. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38802530
548 results