TARGETING P53 AND NUCLEOLAR STRESS IN DIAMOND-BLACKFAN ANAEMIA
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DOI: 10.1016/j.exphem.2019.06.372
Abstract: Diamond-Blackfan anaemia (DBA) is a rare congenital erythroid hypoplastic anaemia characterised by severely reduced numbers of erythroid precursors in the bone marrow. This reduction of erythroid progenitors is partly due to p53-induced apoptosis during erythroid… read more here.
Keywords: p53; diamond blackfan; nucleolar stress; blackfan anaemia ... See more keywords
Impaired cellular and humoral immunity is a feature of Diamond‐Blackfan anaemia; experience of 107 unselected cases in the United Kingdom
Sign Up to like & getrecommendations! Published in 2019 at "British Journal of Haematology"
DOI: 10.1111/bjh.15915
Abstract: Diamond‐Blackfan anaemia (DBA) is a rare bone marrow failure syndrome characterised by anaemia, congenital anomalies and cancer predisposition. Although infections are the second leading cause of mortality in non‐transplanted patients, immune function is largely unexplored.… read more here.
Keywords: 107 unselected; blackfan anaemia; diamond blackfan;
A 20‐year long term experience of the Italian Diamond‐Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?
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DOI: 10.1111/bjh.16508
Abstract: Diamond–Blackfan anaemia (DBA) is a rare and heterogeneous disease characterised by hypoplastic anaemia, congenital anomalies and a predisposition for malignancies. The aim of this paper is to report the findings from the Italian DBA Registry,… read more here.
Keywords: blackfan anaemia; year long; diamond blackfan; anaemia ... See more keywords
Diamond–Blackfan anaemia with iron overload: A serious issue
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DOI: 10.1111/bjh.18393
Abstract: Transfusion‐dependent Diamond–Blackfan anaemia (DBA) patients rapidly develop iron overload and frequently experience cardiac complications. The report by Lecornec and colleagues offers useful details on indications and the management of deferiprone, a highly efficient chelator in… read more here.
Keywords: iron overload; iron; diamond blackfan; blackfan anaemia ... See more keywords
Diamond‐Blackfan anaemia caused by a de novo initiation codon mutation resulting in a shorter isoform of GATA1
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DOI: 10.1111/cge.14218
Abstract: Diamond‐Blackfan anaemia (DBA) is an inherited marrow failure disorder characterised by selective erythroid aplasia. Herein, we reported a case of DBA caused by a novel GATA1 gene mutation. The proband manifested normocytic normochromic anaemia, while… read more here.
Keywords: diamond blackfan; blackfan anaemia; initiation codon; gata1 ... See more keywords