ArticleAdvances in hematology2010
Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism.
Article in Advances in hematology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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.
The trial behind it
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
18 citing papers in PubMed, 51 citations in OpenAlex.
- Treatment of refractory/relapsed Diamond-Blackfan anaemia with eltrombopag.British journal of haematology · 2024Trial
- Placental expression of the heme transporter, feline leukemia virus subgroup C receptor, is related to maternal iron status in pregnant adolescents.The Journal of nutrition · 2011Trial
- Mechanisms of heme transport in the mitochondria.Biochemical Society transactions · 2025Review
- TAF2, within the TFIID complex, regulates the expression of a subset of protein-coding genes.Cell death discovery · 2024Article
- Heme Interactions as Regulators of the Alternative Pathway Complement Responses and Implications for Heme-Associated Pathologies.Current issues in molecular biology · 2023Review
- Arginine metabolism regulates human erythroid differentiation through hypusination of eIF5A.Blood · 2023Article
- Outcome of colorectal cancer in Diamond-Blackfan syndrome with a ribosomal protein S19 mutation.Clinical journal of gastroenterology · 2020Article
- Review
- Article
- Peering through zebrafish to understand inherited bone marrow failure syndromes.Haematologica · 2019Review
- Epo reprograms the epigenome of erythroid cells.Experimental hematology · 2017Article
- Coordinate expression of heme and globin is essential for effective erythropoiesis.The Journal of clinical investigation · 2015Article
- Heme in pathophysiology: a matter of scavenging, metabolism and trafficking across cell membranes.Frontiers in pharmacology · 2014Review
- One ring to rule them all: trafficking of heme and heme synthesis intermediates in the metazoans.Biochimica et biophysica acta · 2012Review
- Control of intracellular heme levels: heme transporters and heme oxygenases.Biochimica et biophysica acta · 2011Review
- Crosstalk between Erythropoiesis and Iron Metabolism.Advances in hematology · 2010Article
- Dysregulation of RNA polymerase I transcription during disease.Biochimica et biophysica actaReview
- Heme and FLVCR-related transporter families SLC48 and SLC49.Molecular aspects of medicineReview
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Diamond-Blackfan anemia (DBA) is a rare, pure red-cell aplasia that presents during infancy. Approximately 40% of cases are associated with other congenital defects, particularly malformations of the upper limb or craniofacial region. Mutations in the gene coding for the ribosomal protein RPS19 have been identified in 25% of patients with DBA, with resulting impairment of 18S rRNA processing and 40S ribosomal subunit formation. Moreover, mutations in other ribosomal protein coding genes account for about 25% of other DBA cases. Recently, the analysis of mice from which the gene coding for the heme exporter Feline Leukemia Virus subgroup C Receptor (FLVCR1) is deleted suggested that this gene may be involved in the pathogenesis of DBA. FLVCR1-null mice show a phenotype resembling that of DBA patients, including erythroid failure and malformations. Interestingly, some DBA patients have disease linkage to chromosome 1q31, where FLVCR1 is mapped. Moreover, it has been reported that cells from DBA patients express alternatively spliced isoforms of FLVCR1 which encode non-functional proteins. Herein, we review the known roles of RPS19 and FLVCR1 in ribosome function and heme metabolism respectively, and discuss how the deficiency of a ribosomal protein or of a heme exporter may result in the same phenotype.
Identifiers
What OpenQuestion holds
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.