ArticleGene2014
Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia.
Article in Gene, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 39 citations in OpenAlex.
- Beyond Hematologic Malignancies: Colorectal Cancer as a Solid Tumor Manifestation of Inherited Bone Marrow Failure Syndromes.International journal of molecular sciences · 2025Review
- Ribosome specialization by cancer-associated ribosomal protein mutations: progress made and open questions.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025Review
- Deficiency of ribosomal protein S26, which is mutated in a subset of patients with Diamond Blackfan anemia, impairs erythroid differentiation.Frontiers in genetics · 2022Article
- The Glucocorticoid Receptor Polymorphism Landscape in Patients With Diamond Blackfan Anemia Reveals an Association Between Two Clinically Relevant Single Nucleotide Polymorphisms and Time to Diagnosis.Frontiers in physiology · 2021Article
- Proerythroblast Cells of Diamond-Blackfan Anemia Patients WithFrontiers in physiology · 2021Article
- Oxidative DNA Damage, Inflammatory Signature, and Altered Erythrocytes Properties in Diamond-Blackfan Anemia.International journal of molecular sciences · 2020Article
- Hallmarks of ribosomopathies.Nucleic acids research · 2020Review
- Ribosomopathies: Old Concepts, New Controversies.Trends in genetics : TIG · 2019Review
- Cancer Biogenesis in Ribosomopathies.Cells · 2019Review
- How I manage children with Diamond-Blackfan anaemia.British journal of haematology · 2019Review
- Extracellular Vesicles Mediate Mesenchymal Stromal Cell-Dependent Regulation of B Cell PI3K-AKT Signaling Pathway and Actin Cytoskeleton.Frontiers in immunology · 2019Article
- A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.Human mutation · 2018Article
- Emerging Therapeutic Approaches for Diamond Blackfan Anemia.Current gene therapy · 2018Review
- Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy.Scientific reports · 2017Article
- [Clinical features and pathogenic gene detection of Diamond-Blackfan anemia].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2017Article
- Article
- The Evolution of the Ribosomal Protein-MDM2-p53 Pathway.Cold Spring Harbor perspectives in medicine · 2016Review
- Probing the mechanisms underlying human diseases in making ribosomes.Biochemical Society transactions · 2016Review
- Ribosomopathies: how a common root can cause a tree of pathologies.Disease models & mechanisms · 2015Review
- The lysine residues within the human ribosomal protein S17 sequence naturally inserted into the viral nonstructural protein of a unique strain of hepatitis E virus are important for enhanced virus replication.Journal of virology · 2015Article
Corrections and comments
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Authors and funding
19 authors at 9 institutions in 3 countries.
Funding
Abstract
Defects in genes encoding ribosomal proteins cause Diamond Blackfan Anemia (DBA), a red cell aplasia often associated with physical abnormalities. Other bone marrow failure syndromes have been attributed to defects in ribosomal components but the link between erythropoiesis and the ribosome remains to be fully defined. Several lines of evidence suggest that defects in ribosome synthesis lead to "ribosomal stress" with p53 activation and either cell cycle arrest or induction of apoptosis. Pathways independent of p53 have also been proposed to play a role in DBA pathogenesis. We took an unbiased approach to identify p53-independent pathways activated by defects in ribosome synthesis by analyzing global gene expression in various cellular models of DBA. Ranking-Principal Component Analysis (Ranking-PCA) was applied to the identified datasets to determine whether there are common sets of genes whose expression is altered in these different cellular models. We observed consistent changes in the expression of genes involved in cellular amino acid metabolic process, negative regulation of cell proliferation and cell redox homeostasis. These data indicate that cells respond to defects in ribosome synthesis by changing the level of expression of a limited subset of genes involved in critical cellular processes. Moreover, our data support a role for p53-independent pathways in the pathophysiology of DBA.
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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.