ALLMedicine™ 5q- Syndrome Center

Aug 21st, 2020 - The role of ribosome biogenesis in erythroid development is supported by the recognition of erythroid defects in ribosomopathies in both Diamond-Blackfan anemia and 5q- syndrome. Whether ribosome biogenesis exerts a regulatory function on normal e...

Apr 25th, 2020 - In ribosomopathies, the Diamond-Blackfan anemia (DBA) or 5q- syndrome, ribosomal protein (RP) genes are affected by mutation or deletion, resulting in bone marrow erythroid hypoplasia. Unbalanced production of ribosomal subunits leading to a limit...

Dec 17th, 2019 - Myelodysplastic syndrome (MDS) is a set of disorders characterized by marrow failure with peripheral blood cytopenias, a peculiar set of morphologic abnormalities in hematopoietic cells, increased marrow blasts in some cases, frequent characterist...

Oct 18th, 2019 - Ribosome is a vital molecular machine for protein translation in the cell. Defects in several ribosomal proteins including RPS19, RPL11 and RPS14 have been observed in two types of anemia: Diamond Blackfan Anemia and 5q- syndrome. In zebrafish, de...

Jan 18th, 2019 - RPS14, CSNK1A1, and miR-145 are universally co-deleted in the 5q- syndrome, but mouse models of each gene deficiency recapitulate only a subset of the composite clinical features. We analyzed the combinatorial effect of haploinsufficiency for Rps1...

Mar 4th, 2008 - The objective of this protocol is to determine whether leucovorin treatment can normalize hematopoietic cell growth and differentiation in patients with 5q- syndrome which may lack the gene for dihydrofolate reductase enzyme.

Dec 5th, 2020 - Normal Blood Cell Development Myelodysplastic syndromes (MDS) are a group of hematological conditions affecting the blood stem cells in the bone marrow. In patients with MDS, the blood stem cells fail to mature into functioning red blood c...