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About 110 results

ALLMedicine™ 5q- Syndrome Center

Research & Reviews  42 results

p53 activation during ribosome biogenesis regulates normal erythroid differentiation.
https://doi.org/10.1182/blood.2019003439
Blood Le Goff S, Boussaid I et. al.

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...

Integrated analyses of translatome and proteome identify the rules of translation selec...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7927886
Haematologica Boussaid I, Le Goff S et. al.

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...

Pediatric Myelodysplastic Syndromes (MDS) Pathology 
https://emedicine.medscape.com/article/1976592-print

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...

Loss of rps9 in Zebrafish Leads to p53-Dependent Anemia.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6893189
G3 (Bethesda, Md.); Chen C, Huang H et. al.

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...

Rps14, Csnk1a1 and miRNA145/miRNA146a deficiency cooperate in the clinical phenotype an...
https://doi.org/10.1038/s41375-018-0350-3
Leukemia Ribezzo F, Snoeren IAM et. al.

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...

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Clinicaltrials.gov  1 results

Leucovorin for the Treatment of 5 q Minus Syndrome
https://clinicaltrials.gov/ct2/show/NCT00004997

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.

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News  1 results

Case Presentation: Myelodysplastic Syndromes
https://www.onclive.com/view/case-presentation-myelodysplastic-syndromes

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...

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