First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia

AP-HP, Service d’Hematologie Biologique, H^opital R. Debre,Paris F-75019, France.
American Journal of Hematology (Impact Factor: 3.8). 02/2013; 88(4):340-1. DOI: 10.1002/ajh.23366
Source: PubMed
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    ABSTRACT: In this issue of Blood, Garçon et al describe successful derivation of induced pluripotent stem cells (iPSs) from fibroblasts of Diamond Blackfan anemia (DBA) patients with 2 distinct ribosomal defects. Using these cells, the authors showed that they not only exhibit defective erythropoiesis but also globally impaired hematopoiesis affecting multipotent progenitors.
    Blood 08/2013; 122(6):856-7. DOI:10.1182/blood-2013-06-508465 · 10.45 Impact Factor
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    ABSTRACT: Diamond Blackfan anemia is a red cell hypoplasia that typically presents within the first year of life. Most cases of Diamond Blackfan anemia are caused by ribosome assembly defects linked to haploinsufficiency for structural proteins of either ribosomal subunit. Nucleolar stress associated with abortive ribosome assembly leads to p53 activation via the interaction of free ribosomal proteins with HDM2, a negative regulator of p53. Significant challenges remain in linking this nucleolar stress signaling pathway to the clinical features of Diamond Blackfan anemia. Defining aspects of disease presentation may relate to developmental and physiological triggers that work in conjunction with nucleolar stress signaling to heighten the p53 response in the developing erythron after birth. The growing number of ribosomopathies provides additional challenges for linking molecular mechanisms with clinical phenotypes. This article is part of a Special Issue entitled: Role of the Nucleolus in Human Disease.
    Biochimica et Biophysica Acta 01/2014; 1842(6). DOI:10.1016/j.bbadis.2013.12.013 · 4.66 Impact Factor
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    ABSTRACT: Ribosomopathies are diseases caused by alterations in the structure or function of ribosomal components. Progress in our understanding of the role of the ribosome in translational and transcriptional regulation has clarified the mechanisms of the ribosomopathies and the relationship between ribosomal dysfunction and other diseases, especially cancer. This review aims to discuss these topics with updated information.
    Clinical Medicine Insights: Blood Disorders 08/2014; 7:7-16. DOI:10.4137/CMBD.S16952
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