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TRIT1 deficiency: Two novel patients with four novel variants.
Smol T, Brunelle P, Caumes R, Boute-Benejean O, Thuillier C, Figeac M, Ait-Yahya E, Bonte F, Mau-Them FT, Thauvin-Robinet C, Faivre L, Roche-Lestienne C, Manouvrier-Hanu S, Petit F, Ghoumid J. Smol T, et al. Among authors: figeac m. Eur J Med Genet. 2022 Nov;65(11):104603. doi: 10.1016/j.ejmg.2022.104603. Epub 2022 Aug 29. Eur J Med Genet. 2022. PMID: 36049610
Frugal alignment-free identification of FLT3-internal tandem duplications with FiLT3r.
Boudry A, Darmon S, Duployez N, Figeac M, Geffroy S, Bucci M, Celli-Lebras K, Duchmann M, Joudinaud R, Fenwarth L, Nibourel O, Goursaud L, Itzykson R, Dombret H, Hunault M, Preudhomme C, Salson M. Boudry A, et al. Among authors: figeac m. BMC Bioinformatics. 2022 Oct 28;23(1):448. doi: 10.1186/s12859-022-04983-6. BMC Bioinformatics. 2022. PMID: 36307762 Free PMC article.
MET exon 14 skipping mutation is a hepatocyte growth factor (HGF)-dependent oncogenic driver in vitro and in humanised HGF knock-in mice.
Fernandes M, Hoggard B, Jamme P, Paget S, Truong MJ, Grégoire V, Vinchent A, Descarpentries C, Morabito A, Stanislovas J, Farage E, Meneboo JP, Sebda S, Bouchekioua-Bouzaghou K, Nollet M, Humez S, Perera T, Fromme P, Grumolato L, Figeac M, Copin MC, Tulasne D, Cortot AB, Kermorgant S, Kherrouche Z. Fernandes M, et al. Among authors: figeac m. Mol Oncol. 2023 Nov;17(11):2257-2274. doi: 10.1002/1878-0261.13397. Epub 2023 Jul 14. Mol Oncol. 2023. PMID: 36799689 Free PMC article.
Galectin-3 modulates epithelial cell adaptation to stress at the ER-mitochondria interface.
Coppin L, Jannin A, Ait Yahya E, Thuillier C, Villenet C, Tardivel M, Bongiovanni A, Gaston C, de Beco S, Barois N, van Seuningen I, Durand E, Bonnefond A, Vienne JC, Vamecq J, Figeac M, Vincent A, Delacour D, Porchet N, Pigny P. Coppin L, et al. Among authors: figeac m. Cell Death Dis. 2020 May 12;11(5):360. doi: 10.1038/s41419-020-2556-3. Cell Death Dis. 2020. PMID: 32398681 Free PMC article.
Neurofibromatosis-1 gene deletions and mutations in de novo adult acute myeloid leukemia.
Boudry-Labis E, Roche-Lestienne C, Nibourel O, Boissel N, Terre C, Perot C, Eclache V, Gachard N, Tigaud I, Plessis G, Cuccuini W, Geffroy S, Villenet C, Figeac M, Leprêtre F, Renneville A, Cheok M, Soulier J, Dombret H, Preudhomme C; French ALFA group. Boudry-Labis E, et al. Among authors: figeac m. Am J Hematol. 2013 Apr;88(4):306-11. doi: 10.1002/ajh.23403. Epub 2013 Mar 5. Am J Hematol. 2013. PMID: 23460398 Free article.
Germline PAX5 mutation predisposes to familial B-cell precursor acute lymphoblastic leukemia.
Duployez N, Jamrog LA, Fregona V, Hamelle C, Fenwarth L, Lejeune S, Helevaut N, Geffroy S, Caillault A, Marceau-Renaut A, Poulain S, Roche-Lestienne C, Largeaud L, Prade N, Dufrechou S, Hébrard S, Berthon C, Nelken B, Fernandes J, Villenet C, Figeac M, Gerby B, Delabesse E, Preudhomme C, Broccardo C. Duployez N, et al. Among authors: figeac m. Blood. 2021 Mar 11;137(10):1424-1428. doi: 10.1182/blood.2020005756. Blood. 2021. PMID: 33036026 Free article. No abstract available.
Genomic characterization of Imatinib resistance in CD34+ cell populations from chronic myeloid leukaemia patients.
Joha S, Dauphin V, Leprêtre F, Corm S, Nicolini FE, Roumier C, Nibourel O, Grardel N, Maguer-Satta V, Idziorek T, Figeac M, Laï JL, Quesnel B, Etienne G, Guilhot F, Lippert E, Preudhomme C, Roche-Lestienne C. Joha S, et al. Among authors: figeac m. Leuk Res. 2011 Apr;35(4):448-58. doi: 10.1016/j.leukres.2010.07.012. Epub 2010 Aug 3. Leuk Res. 2011. PMID: 20684991
95 results