Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia
Sign Up to like & getrecommendations! Published in 2022 at "FEBS Open Bio"
DOI: 10.1002/2211-5463.13444
Abstract: Ribosomes, the cellular organelles translating the genetic code to proteins, are assemblies of RNA chains and many proteins (RPs) arranged in precise fine‐tuned interwoven structures. Mutated ribosomal genes cause ribosomopathies, including Diamond Blackfan anemia (DBA,… read more here.
Keywords: biogenesis; diamond blackfan; blackfan anemia;
Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24323
Abstract: Diamond–Blackfan anemia is a rare genetic disease characterized by erythroblastopenia and a large spectrum of developmental anomalies. The vast majority of the cases genetically described are linked to heterozygous pathogenic variants in more than 20… read more here.
Keywords: diamond blackfan; blackfan anemia; rpl8 variants;
Concise Review: Advanced Cell Culture Models for Diamond Blackfan Anemia and Other Erythroid Disorders
Sign Up to like & getrecommendations! Published in 2018 at "STEM CELLS"
DOI: 10.1002/stem.2735
Abstract: In vitro surrogate models of human erythropoiesis made many contributions to our understanding of the extrinsic and intrinsic regulation of this process in vivo and how they are altered in erythroid disorders. In the past,… read more here.
Keywords: erythroid disorders; culture; blackfan anemia; diamond blackfan ... See more keywords
Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Hematology"
DOI: 10.1007/s12185-020-02950-6
Abstract: Diamond-Blackfan Anemia (DBA) is a congenital pure red cell aplasia caused by heterozygous variants in ribosomal protein genes. The hematological features associated with DBA are highly variable and non-hematological abnormalities are common. We report herein… read more here.
Keywords: spontaneous remission; anemia; rps7 variant; rps7 ... See more keywords
Cross talk between TP53 and c-Myc in the pathophysiology of Diamond-Blackfan anemia: Evidence from RPL11-deficient in vivo and in vitro models.
Sign Up to like & getrecommendations! Published in 2018 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2017.12.019
Abstract: Mutations in genes encoding ribosomal proteins have been identified in Diamond-Blackfan anemia (DBA), a rare genetic disorder that presents with a prominent erythroid phenotype. TP53 has been implicated in the pathophysiology of DBA with ribosomal… read more here.
Keywords: rpl11 deficient; anemia; diamond blackfan; myc ... See more keywords
TARGETING P53 AND NUCLEOLAR STRESS IN DIAMOND-BLACKFAN ANAEMIA
Sign Up to like & getrecommendations! Published in 2019 at "Experimental Hematology"
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
Diamond Blackfan anemia is mediated by hyperactive Nemo-like kinase
Sign Up to like & getrecommendations! Published in 2020 at "Nature Communications"
DOI: 10.1038/s41467-020-17100-z
Abstract: Diamond Blackfan Anemia (DBA) is a congenital bone marrow failure syndrome associated with ribosomal gene mutations that lead to ribosomal insufficiency. DBA is characterized by anemia, congenital anomalies, and cancer predisposition. Treatment for DBA is… read more here.
Keywords: like kinase; nemo like; blackfan anemia; diamond blackfan ... 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?
Sign Up to like & getrecommendations! Published in 2020 at "British Journal of Haematology"
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
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
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