ReviewSeminars in hematology2011
Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.
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 30 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
30 citing papers in PubMed, 55 citations in OpenAlex.
- Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.Journal of medical genetics · 2017Trial
- A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia.European journal of human genetics : EJHG · 2026Article
- Identification of potential genes and candidate drugs for intrahepatic cholestasis of pregnancy based on bioinformatics.Annals of medicine and surgery (2012) · 2026Article
- Biomarker signatures distinguish diabetic retinopathy and diabetic nephropathy.Diabetology international · 2025Article
- Cytosolic Ribosomal Protein Haploinsufficiency affects Mitochondrial Morphology and Respiration.bioRxiv : the preprint server for biology · 2024Article
- The genetic etiologies of bilateral renal agenesis.Prenatal diagnosis · 2024Review
- Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes.Genes · 2022Review
- Pathogenic germlineCold Spring Harbor molecular case studies · 2021Article
- Article
- Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants inHaematologica · 2021Article
- Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele.International journal of hematology · 2020Article
- Maternal Ribosomes Are Sufficient for Tissue Diversification during Embryonic Development in C. elegans.Developmental cell · 2019Article
- Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.NPJ genomic medicine · 2019Article
- [The clinical characteristics and molecular pathogenesis of a variant Glanzmann's thrombasthenia-like pedigree].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2018Article
- The vacuolar HBone reports · 2017Article
- The severe phenotype of Diamond-Blackfan anemia is modulated by heat shock protein 70.Blood advances · 2017Article
- GRWD1, a new player among oncogenesis-related ribosomal/nucleolar proteins.Cell cycle (Georgetown, Tex.) · 2017Review
- The clinical impact of copy number variants in inherited bone marrow failure syndromes.NPJ genomic medicine · 2017Article
- Glucocorticoids improve erythroid progenitor maintenance and dampen Trp53 response in a mouse model of Diamond-Blackfan anaemia.British journal of haematology · 2015Article
- Anemia of Central Origin.Seminars in hematology · 2015Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
Diamond Blackfan anemia (DBA) is a lineage-selective inherited bone marrow failure syndrome characterized primarily by anemia and physical malformations. Recent advances in identifying the genetic abnormalities underlying DBA have demonstrated involvement of genes encoding both large (RPL) and small (RPS) ribosomal subunit proteins, including mutations of RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26 in 50% to 60% of affected patients. Despite significant progress, identification of gene abnormalities in the remaining patients remains an important question since present data suggest that mutations in other members of the ribosomal protein gene complement do not explain those cases without an identified genetic lesion in these genes. Genetic studies have also raised new questions with the recognition of substantial variability in the manifestations of DBA, ranging from ribosomal protein mutations in otherwise asymptomatic individuals to those with classic severe red blood cell aplasia with characteristic malformations, at times within the same kindred. In this review, we summarize the genetic basis of DBA and discuss mechanisms by which the phenotype of DBA might be modified.
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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.