ReviewSeminars in hematology2011
Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome.
Review in Seminars in hematology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
28 citing papers in PubMed, 44 citations in OpenAlex.
- Ribosome biogenesis and selective translational control as oncogenic vulnerabilities in hematologic malignancies.Molecular cancer · 2026Review
- Structural and molecular basis of specialized translation mediated by the ribosome mRNA-binding channel.Nature communications · 2026Article
- The kinase Rio1 and a ribosome collision-dependent decay pathway survey the integrity of 18S rRNA cleavage.PLoS biology · 2024Article
- Alcohol exposure suppresses ribosome biogenesis and causes nucleolar stress in cranial neural crest cells.PloS one · 2024Article
- Case report: Development of clonal hematologic disorders from inherited bone marrow failure.Frontiers in oncology · 2024Article
- Selective translational control of cellular and viral mRNAs by RPS3 mRNA binding.Nucleic acids research · 2023Article
- Translation regulation of specific mRNAs by RPS26 C-terminal RNA-binding tail integrates energy metabolism and AMPK-mTOR signaling.Nucleic acids research · 2023Article
- Quality control ensures fidelity in ribosome assembly and cellular health.The Journal of cell biology · 2023Review
- Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Genetic Predisposition to Myelodysplastic Syndromes: A Challenge for Adult Hematologists.International journal of molecular sciences · 2021Review
- Review
- A kinase-dependent checkpoint prevents escape of immature ribosomes into the translating pool.PLoS biology · 2019Article
- Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.Molecular diagnosis & therapy · 2019Review
- Ribosome biogenesis factor Ltv1 chaperones the assembly of the small subunit head.The Journal of cell biology · 2018Article
- Identification of differentially expressed genes and pathways in mice exposed to mixed field neutron/photon radiation.BMC genomics · 2018Article
- Rps26 directs mRNA-specific translation by recognition of Kozak sequence elements.Nature structural & molecular biology · 2017Article
- The thrombopoietin/MPL axis is activated in the Gata1Blood cancer journal · 2017Article
- Ribosomopathy-like properties of murine and human cancers.PloS one · 2017Article
- New insights into the Shwachman-Diamond Syndrome-related haematological disorder: hyper-activation of mTOR and STAT3 in leukocytes.Scientific reports · 2016Article
- Probing the mechanisms underlying human diseases in making ribosomes.Biochemical Society transactions · 2016Review
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
Abstract
A number of human disorders, dubbed ribosomopathies, are linked to impaired ribosome biogenesis or function. These include but are not limited to Diamond Blackfan anemia (DBA), Shwachman Diamond syndrome (SDS), and the 5q- myelodysplastic syndrome (MDS). This review focuses on the latter two non-DBA disorders of ribosome function. Both SDS and 5q- syndrome lead to impaired hematopoiesis and a predisposition to leukemia. SDS, due to bi-allelic mutations of the SBDS gene, is a multi-system disorder that also includes bony abnormalities, and pancreatic and neurocognitive dysfunction. SBDS associates with the 60S subunit in human cells and has a role in subunit joining and translational activation in yeast models. In contrast, 5q- syndrome is associated with acquired haplo-insufficiency of RPS14, a component of the small 40S subunit. RPS14 is critical for 40S assembly in yeast models, and depletion of RPS14 in human CD34(+) cells is sufficient to recapitulate the 5q- erythroid defect. Both SDS and the 5q- syndrome represent important models of ribosome function and may inform future treatment strategies for the ribosomopathies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.