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Page 1
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.
O'Donohue MF, Da Costa L, Lezzerini M, Unal S, Joret C, Bartels M, Brilstra E, Scheijde-Vermeulen M, Wacheul L, De Keersmaecker K, Vereecke S, Labarque V, Saby M, Lefevre SD, Platon J, Montel-Lehry N, Laugero N, Lacazette E, van Gassen K, Houtkooper RH, Simsek-Kiper PO, Leblanc T, Yarali N, Cetinkaya A, Akarsu NA, Gleizes PE, Lafontaine DLJ, MacInnes AW. O'Donohue MF, et al. Among authors: platon j. Blood. 2022 May 26;139(21):3111-3126. doi: 10.1182/blood.2021011846. Blood. 2022. PMID: 35213692 Free PMC article.
Arginine metabolism regulates human erythroid differentiation through hypusination of eIF5A.
Gonzalez-Menendez P, Phadke I, Olive ME, Joly A, Papoin J, Yan H, Galtier J, Platon J, Kang SWS, McGraw KL, Daumur M, Pouzolles M, Kondo T, Boireau S, Paul F, Young DJ, Lamure S, Mirmira RG, Narla A, Cartron G, Dunbar CE, Boyer-Clavel M, Porat-Shliom N, Dardalhon V, Zimmermann VS, Sitbon M, Dever TE, Mohandas N, Da Costa L, Udeshi ND, Blanc L, Kinet S, Taylor N. Gonzalez-Menendez P, et al. Among authors: platon j. Blood. 2023 May 18;141(20):2520-2536. doi: 10.1182/blood.2022017584. Blood. 2023. PMID: 36735910 Free PMC article.
Next generation sequencing (NGS) interest in deciphering erythrocyte molecular defects' association in red cell disorders: Clinical and erythrocyte phenotypes of patients with mutations inheritance in PIEZO1, Spectrin ß1, RhAG and SLC4A1.
Allegrini B, NGuyen LD, Mignotet M, Etchebest C, Fenneteau O, Platon J, Lambilliotte A, Guizouarn H, Da Costa L. Allegrini B, et al. Among authors: platon j. Blood Cells Mol Dis. 2023 Nov;103:102780. doi: 10.1016/j.bcmd.2023.102780. Epub 2023 Jul 20. Blood Cells Mol Dis. 2023. PMID: 37516005
RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.
Vanlerberghe C, Frénois F, Smol T, Jourdain AS, Escande F, Aït-Yahya E, Aldeeri AA, Yu TW, Cormier-Daire V, Ghoumid J, Jacob M, Newbury-Ecob R, Manouvrier S, Platon J, Sailer S, Brunelle P, Da Costa L, Petit F. Vanlerberghe C, et al. Among authors: platon j. Genet Med. 2024 Sep 10;26(12):101266. doi: 10.1016/j.gim.2024.101266. Online ahead of print. Genet Med. 2024. PMID: 39268718
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
Block J, Rashkova C, Castanon I, Zoghi S, Platon J, Ardy RC, Fujiwara M, Chaves B, Schoppmeyer R, van der Made CI, Jimenez Heredia R, Harms FL, Alavi S, Alsina L, Sanchez Moreno P, Ávila Polo R, Cabrera-Pérez R, Kostel Bal S, Pfajfer L, Ransmayr B, Mautner AK, Kondo R, Tinnacher A, Caldera M, Schuster M, Domínguez Conde C, Platzer R, Salzer E, Boyer T, Brunner HG, Nooitgedagt-Frons JE, Iglesias E, Deyà-Martinez A, Camacho-Lovillo M, Menche J, Bock C, Huppa JB, Pickl WF, Distel M, Yoder JA, Traver D, Engelhardt KR, Linden T, Kager L, Hannich JT, Hoischen A, Hambleton S, Illsinger S, Da Costa L, Kutsche K, Chavoshzadeh Z, van Buul JD, Antón J, Calzada-Hernández J, Neth O, Viaud J, Nishikimi A, Dupré L, Boztug K. Block J, et al. Among authors: platon j. N Engl J Med. 2023 Aug 10;389(6):527-539. doi: 10.1056/NEJMoa2210054. Epub 2023 Jun 21. N Engl J Med. 2023. PMID: 37342957
PIEZO1 activation delays erythroid differentiation of normal and hereditary xerocytosis-derived human progenitor cells.
Caulier A, Jankovsky N, Demont Y, Ouled-Haddou H, Demagny J, Guitton C, Merlusca L, Lebon D, Vong P, Aubry A, Lahary A, Rose C, Gréaume S, Cardon E, Platon J, Ouadid-Ahidouch H, Rochette J, Marolleau JP, Picard V, Garçon L. Caulier A, et al. Among authors: platon j. Haematologica. 2020 Mar;105(3):610-622. doi: 10.3324/haematol.2019.218503. Epub 2019 Aug 14. Haematologica. 2020. PMID: 31413092 Free PMC article.
Application of Machine Learning Prediction of Individual SARS-CoV-2 Vaccination and Infection Status to the French Serosurveillance Survey From March 2020 to 2022: Cross-Sectional Study.
Bougeard S, Huneau-Salaun A, Attia M, Richard JB, Demeret C, Platon J, Allain V, Le Vu S, Goyard S, Gillon V, Bernard-Stoecklin S, Crescenzo-Chaigne B, Jones G, Rose N, van der Werf S, Lantz O, Rose T, Noël H. Bougeard S, et al. Among authors: platon j. JMIR Public Health Surveill. 2023 Nov 28;9:e46898. doi: 10.2196/46898. JMIR Public Health Surveill. 2023. PMID: 38015594 Free PMC article.
14 results