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Page 1
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features.
Saultier P, Vidal L, Canault M, Bernot D, Falaise C, Pouymayou C, Bordet JC, Saut N, Rostan A, Baccini V, Peiretti F, Favier M, Lucca P, Deleuze JF, Olaso R, Boland A, Morange PE, Gachet C, Malergue F, Fauré S, Eckly A, Trégouët DA, Poggi M, Alessi MC. Saultier P, et al. Among authors: pouymayou c. Haematologica. 2017 Jun;102(6):1006-1016. doi: 10.3324/haematol.2016.153577. Epub 2017 Mar 2. Haematologica. 2017. PMID: 28255014 Free PMC article.
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.
Noris P, Schlegel N, Klersy C, Heller PG, Civaschi E, Pujol-Moix N, Fabris F, Favier R, Gresele P, Latger-Cannard V, Cuker A, Nurden P, Greinacher A, Cattaneo M, De Candia E, Pecci A, Hurtaud-Roux MF, Glembotsky AC, Muñiz-Diaz E, Randi ML, Trillot N, Bury L, Lecompte T, Marconi C, Savoia A, Balduini CL, Bayart S, Bauters A, Benabdallah-Guedira S, Boehlen F, Borg JY, Bottega R, Bussel J, De Rocco D, de Maistre E, Faleschini M, Falcinelli E, Ferrari S, Ferster A, Fierro T, Fleury D, Fontana P, James C, Lanza F, Le Cam Duchez V, Loffredo G, Magini P, Martin-Coignard D, Menard F, Mercier S, Mezzasoma A, Minuz P, Nichele I, Notarangelo LD, Pippucci T, Podda GM, Pouymayou C, Rigouzzo A, Royer B, Sie P, Siguret V, Trichet C, Tucci A, Saposnik B, Veneri D; European Hematology Association – Scientific Working Group on Thrombocytopenias and Platelet Function Disorders. Noris P, et al. Among authors: pouymayou c. Haematologica. 2014 Aug;99(8):1387-94. doi: 10.3324/haematol.2014.105924. Epub 2014 Apr 24. Haematologica. 2014. PMID: 24763399 Free PMC article.
The natural occurrence of human fibrinogen variants disrupting inter-chain disulfide bonds (A{alpha}Cys36Gly, A{alpha}Cys36Arg and A{alpha}Cys45Tyr) confirms the role of N-terminal A{alpha} disulfide bonds in protein assembly and secretion.
Hanss M, Pouymayou C, Blouch MT, Lellouche F, Ffrench P, Rousson R, Abgrall JF, Morange PE, Quélin F, de Mazancourt P. Hanss M, et al. Among authors: pouymayou c. Haematologica. 2011 Aug;96(8):1226-30. doi: 10.3324/haematol.2010.029801. Epub 2011 Apr 1. Haematologica. 2011. PMID: 21459789 Free PMC article.