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Page 1
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. 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.
Spontaneous abrogation of the G₂DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients.
Ceccaldi R, Briot D, Larghero J, Vasquez N, Dubois d'Enghien C, Chamousset D, Noguera ME, Waisfisz Q, Hermine O, Pondarre C, Leblanc T, Gluckman E, Joenje H, Stoppa-Lyonnet D, Socié G, Soulier J. Ceccaldi R, et al. J Clin Invest. 2011 Jan;121(1):184-94. doi: 10.1172/JCI43836. Epub 2010 Dec 22. J Clin Invest. 2011. PMID: 21183791 Free PMC article.
Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions.
Quentin S, Cuccuini W, Ceccaldi R, Nibourel O, Pondarre C, Pagès MP, Vasquez N, Dubois d'Enghien C, Larghero J, Peffault de Latour R, Rocha V, Dalle JH, Schneider P, Michallet M, Michel G, Baruchel A, Sigaux F, Gluckman E, Leblanc T, Stoppa-Lyonnet D, Preudhomme C, Socié G, Soulier J. Quentin S, et al. Among authors: ceccaldi r. Blood. 2011 Apr 14;117(15):e161-70. doi: 10.1182/blood-2010-09-308726. Epub 2011 Feb 16. Blood. 2011. PMID: 21325596 Free article.
Biallelic inactivation of REV7 is associated with Fanconi anemia.
Bluteau D, Masliah-Planchon J, Clairmont C, Rousseau A, Ceccaldi R, Dubois d'Enghien C, Bluteau O, Cuccuini W, Gachet S, Peffault de Latour R, Leblanc T, Socié G, Baruchel A, Stoppa-Lyonnet D, D'Andrea AD, Soulier J. Bluteau D, et al. Among authors: ceccaldi r. J Clin Invest. 2016 Sep 1;126(9):3580-4. doi: 10.1172/JCI88010. Epub 2016 Aug 8. J Clin Invest. 2016. PMID: 27500492 Free PMC article.
Biallelic inactivation of REV7 is associated with Fanconi anemia.
Bluteau D, Masliah-Planchon J, Clairmont C, Rousseau A, Ceccaldi R, d'Enghien CD, Bluteau O, Cuccuini W, Gachet S, de Latour RP, Leblanc T, Socié G, Baruchel A, Stoppa-Lyonnet D, D'Andrea AD, Soulier J. Bluteau D, et al. Among authors: ceccaldi r. J Clin Invest. 2017 Mar 1;127(3):1117. doi: 10.1172/JCI92946. Epub 2017 Mar 1. J Clin Invest. 2017. PMID: 28248207 Free PMC article. No abstract available.
21 results