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Diamond-Blackfan anemia.
Da Costa L, Leblanc T, Mohandas N. Da Costa L, et al. Blood. 2020 Sep 10;136(11):1262-1273. doi: 10.1182/blood.2019000947. Blood. 2020. PMID: 32702755 Free PMC article. Review.
Diamond-Blackfan anemia (DBA) was the first ribosomopathy described and is a constitutional inherited bone marrow failure syndrome. Erythroblastopenia is the major characteristic of the disease, which is a model for ribosomal diseases, related to a heterozygo …
Diamond-Blackfan anemia (DBA) was the first ribosomopathy described and is a constitutional inherited bone marrow failu …
Diamond-Blackfan anemia.
Da Costa L, Willig TN, Fixler J, Mohandas N, Tchernia G. Da Costa L, et al. Curr Opin Pediatr. 2001 Feb;13(1):10-5. doi: 10.1097/00008480-200102000-00002. Curr Opin Pediatr. 2001. PMID: 11176237 Review.
Diamond-Blackfan Anemia (DBA) is a rare, congenital hypoplastic anemia often diagnosed early in infancy. A moderate to severe aregenerative anemia is found in association with erythroblastopenia in an otherwise normocellular bone marrow. ...
Diamond-Blackfan Anemia (DBA) is a rare, congenital hypoplastic anemia often diagnosed early in infancy. A moder …
GATA1 mutations in red cell disorders.
Ling T, Crispino JD. Ling T, et al. IUBMB Life. 2020 Jan;72(1):106-118. doi: 10.1002/iub.2177. Epub 2019 Oct 25. IUBMB Life. 2020. PMID: 31652397 Free PMC article. Review.
However, even greater insights have come from the finding that a number of rare red cell disorders, including Diamond-Blackfan anemia, are associated with GATA1 mutations. These mutations affect the amino-terminal zinc finger (N-ZF) and the amino-terminus of …
However, even greater insights have come from the finding that a number of rare red cell disorders, including Diamond-Blackfan …
Recent advances in hematopoietic cell transplantation for inherited bone marrow failure syndromes.
Sakaguchi H, Yoshida N. Sakaguchi H, et al. Int J Hematol. 2022 Jul;116(1):16-27. doi: 10.1007/s12185-022-03362-4. Epub 2022 May 28. Int J Hematol. 2022. PMID: 35633493 Review.
Inherited bone marrow failure syndromes (IBMFSs) are a group of rare genetic disorders characterized by bone marrow failure with unique phenotypes and predisposition to cancer. Classical IBMFSs primarily include Fanconi anemia with impaired DNA damage repair, dyskeratosis …
Inherited bone marrow failure syndromes (IBMFSs) are a group of rare genetic disorders characterized by bone marrow failure with unique phen …
GATA factor mutations in hematologic disease.
Crispino JD, Horwitz MS. Crispino JD, et al. Blood. 2017 Apr 13;129(15):2103-2110. doi: 10.1182/blood-2016-09-687889. Epub 2017 Feb 8. Blood. 2017. PMID: 28179280 Free PMC article. Review.
GATA family proteins play essential roles in development of many cell types, including hematopoietic, cardiac, and endodermal lineages. The first three factors, GATAs 1, 2, and 3, are essential for normal hematopoiesis, and their mutations are responsible for a variety of …
GATA family proteins play essential roles in development of many cell types, including hematopoietic, cardiac, and endodermal lineages. The …
Perspectives of current understanding and therapeutics of Diamond-Blackfan anemia.
Liu Y, Karlsson S. Liu Y, et al. Leukemia. 2024 Jan;38(1):1-9. doi: 10.1038/s41375-023-02082-w. Epub 2023 Nov 16. Leukemia. 2024. PMID: 37973818 Free PMC article. Review.
Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure disorder characterized by erythroid hypoplasia. ...
Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure disorder characterized by erythroid hypoplasia. …
Pure red cell aplasia.
Means RT Jr. Means RT Jr. Hematology Am Soc Hematol Educ Program. 2016 Dec 2;2016(1):51-56. doi: 10.1182/asheducation-2016.1.51. Hematology Am Soc Hematol Educ Program. 2016. PMID: 27913462 Free PMC article. Review.
Pure red cell aplasia (PRCA) is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. Diamond-Blackfan anemia is a congenital form of PRCA. Acq …
Pure red cell aplasia (PRCA) is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduc …
The metabolic basis of inherited neutropenias.
Oyarbide U, Crane GM, Corey SJ. Oyarbide U, et al. Br J Haematol. 2024 Jan;204(1):45-55. doi: 10.1111/bjh.19192. Epub 2023 Dec 4. Br J Haematol. 2024. PMID: 38049194 Review.
We hypothesize that metabolic disturbances may drive the pathogenesis of a subset of inherited neutropenias just as defects in DNA damage response do in Fanconi anaemia, telomere maintenance in dyskeratosis congenita and ribosome formation in Diamond-Blackfan anaemi …
We hypothesize that metabolic disturbances may drive the pathogenesis of a subset of inherited neutropenias just as defects in DNA damage re …
Acquired ribosomopathies in leukemia and solid tumors.
Vlachos A. Vlachos A. Hematology Am Soc Hematol Educ Program. 2017 Dec 8;2017(1):716-719. doi: 10.1182/asheducation-2017.1.716. Hematology Am Soc Hematol Educ Program. 2017. PMID: 29222326 Free PMC article. Review.
A mutation in the gene encoding the small subunit-associated ribosomal protein RPS19, leading to RPS19 haploinsufficiency, is one of the ribosomal protein gene defects responsible for the rare inherited bone marrow failure syndrome Diamond Blackfan anemia (DB …
A mutation in the gene encoding the small subunit-associated ribosomal protein RPS19, leading to RPS19 haploinsufficiency, is one of the rib …
Regulation of GATA1 levels in erythropoiesis.
Gutiérrez L, Caballero N, Fernández-Calleja L, Karkoulia E, Strouboulis J. Gutiérrez L, et al. IUBMB Life. 2020 Jan;72(1):89-105. doi: 10.1002/iub.2192. Epub 2019 Nov 25. IUBMB Life. 2020. PMID: 31769197 Free article. Review.
The importance of maintaining proper GATA1 protein homeostasis in erythropoiesis is demonstrated by the fact that both GATA1 loss and its overexpression result in lethal anemia. Importantly, alterations in any of those GATA1 regulatory checkpoints have been recognized as a …
The importance of maintaining proper GATA1 protein homeostasis in erythropoiesis is demonstrated by the fact that both GATA1 loss and its ov …
44 results