ArticleAmerican journal of hematology2014
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis.
Article in American journal of hematology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00106015 (Diamond Blackfan Anemia Registry), which is not on this map. Cited by 42 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.
Diamond Blackfan Anemia Registry (DBAR)
Who cites it
42 citing papers in PubMed, 61 citations in OpenAlex.
- A novel frameshiftFrontiers in genetics · 2026Article
- Circadian clock control of ribosome composition promotes rhythmic translation and termination fidelity.Cell reports · 2025Article
- Expression Profiles of Housekeeping Genes and Tissue-Specific Genes in Different Tissues of Chinese Sturgeon (Animals : an open access journal from MDPI · 2024Article
- Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.The Lancet. Haematology · 2024Article
- Disruption of mitochondrial energy metabolism is a putative pathogenesis of Diamond-Blackfan anemia.iScience · 2024Article
- Nucleic acid-induced inflammation on hematopoietic stem cells.Experimental hematology · 2024Article
- The Diverse Genomic Landscape of Diamond-Blackfan Anemia: Two Novel Variants and a Mini-Review.Children (Basel, Switzerland) · 2023Review
- Nucleolar stress: From development to cancer.Seminars in cell & developmental biology · 2023Review
- Silencing eL31 suppresses the progression of colorectal cancer via targeting DEPDC1.Journal of translational medicine · 2022Article
- Ribosomal protein L5 facilitates rDNA-bundled condensate and nucleolar assembly.Life science alliance · 2022Article
- Regulation of Nucleolar Activity by MYC.Cells · 2022Review
- Deficiency of ribosomal protein S26, which is mutated in a subset of patients with Diamond Blackfan anemia, impairs erythroid differentiation.Frontiers in genetics · 2022Article
- Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.Frontiers in immunology · 2022Article
- Systematic Target Screening Revealed That Tif302 Could Be an Off-Target of the Antifungal Terbinafine in Fission Yeast.Biomolecules & therapeutics · 2021Article
- The Effect of Interferons on Presentation of Defective Ribosomal Products as HLA Peptides.Molecular & cellular proteomics : MCP · 2021Article
- Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.Human mutation · 2020Article
- Diamond-Blackfan anemia.Blood · 2020Review
- Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Congenital Anemias.Molecular diagnosis & therapy · 2020Review
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Corrections and comments
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Authors and funding
19 authors at 11 institutions in 2 countries.
Funding
Abstract
Diamond Blackfan anemia (DBA), a syndrome primarily characterized by anemia and physical abnormalities, is one among a group of related inherited bone marrow failure syndromes (IBMFS) which share overlapping clinical features. Heterozygous mutations or single-copy deletions have been identified in 12 ribosomal protein genes in approximately 60% of DBA cases, with the genetic etiology unexplained in most remaining patients. Unlike many IBMFS, for which functional screening assays complement clinical and genetic findings, suspected DBA in the absence of typical alterations of the known genes must frequently be diagnosed after exclusion of other IBMFS. We report here a novel deletion in a child that presented such a diagnostic challenge and prompted development of a novel functional assay that can assist in the diagnosis of a significant fraction of patients with DBA. The ribosomal proteins affected in DBA are required for pre-rRNA processing, a process which can be interrogated to monitor steps in the maturation of 40S and 60S ribosomal subunits. In contrast to prior methods used to assess pre-rRNA processing, the assay reported here, based on capillary electrophoresis measurement of the maturation of rRNA in pre-60S ribosomal subunits, would be readily amenable to use in diagnostic laboratories. In addition to utility as a diagnostic tool, we applied this technique to gene discovery in DBA, resulting in the identification of RPL31 as a novel DBA gene.
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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.