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Bone marrow failure in Fanconi anemia is triggered by an exacerbated p53/p21 DNA damage response that impairs hematopoietic stem and progenitor cells.
Ceccaldi R, Parmar K, Mouly E, Delord M, Kim JM, Regairaz M, Pla M, Vasquez N, Zhang QS, Pondarre C, Peffault de Latour R, Gluckman E, Cavazzana-Calvo M, Leblanc T, Larghero J, Grompe M, Socié G, D'Andrea AD, Soulier J. Ceccaldi R, et al. Among authors: leblanc t. Cell Stem Cell. 2012 Jul 6;11(1):36-49. doi: 10.1016/j.stem.2012.05.013. Epub 2012 Jun 7. Cell Stem Cell. 2012. PMID: 22683204 Free PMC article.
Detection of somatic mosaicism and classification of Fanconi anemia patients by analysis of the FA/BRCA pathway.
Soulier J, Leblanc T, Larghero J, Dastot H, Shimamura A, Guardiola P, Esperou H, Ferry C, Jubert C, Feugeas JP, Henri A, Toubert A, Socié G, Baruchel A, Sigaux F, D'Andrea AD, Gluckman E. Soulier J, et al. Among authors: leblanc t. Blood. 2005 Feb 1;105(3):1329-36. doi: 10.1182/blood-2004-05-1852. Epub 2004 Sep 21. Blood. 2005. PMID: 15383454 Free article.
Diagnosis of Fanconi anemia in patients with bone marrow failure.
Pinto FO, Leblanc T, Chamousset D, Le Roux G, Brethon B, Cassinat B, Larghero J, de Villartay JP, Stoppa-Lyonnet D, Baruchel A, Socié G, Gluckman E, Soulier J. Pinto FO, et al. Among authors: leblanc t. Haematologica. 2009 Apr;94(4):487-95. doi: 10.3324/haematol.13592. Epub 2009 Mar 10. Haematologica. 2009. PMID: 19278965 Free PMC article.
590 results