Associated Papers
DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome.
Quarello P et al.
American Journal of Hematology, 2026
Rps19 R67∆ mutation creates a model of Diamond-Blackfan anemia and reveals downstream mediators of p53 pathway.
Kokavec J et al.
Hemasphere, 2026
Regulated GATA1 expression as a universal gene therapy for Diamond-Blackfan anemia.
Voit RA et al.
Cell Stem Cell, 2025
Diagnosis of Diamond-Blackfan anemia in adulthood: case series and review of the literature.
Versino F et al.
Orphanet Journal of Rare Diseases, 2024
Genotype-phenotype associations in individuals with Diamond Blackfan anaemia.
Gianferante DM et al.
Ejhaem, 2024
Generation of iPSC lines and isogenic gene-corrected lines from two individuals with RPS19-mutated Diamond-Blackfan anemia syndrome.
Osuna MAL et al.
Stem Cell Research, 2024
Normal Erythroid Precursors in Diamond-Blackfan Anemia: A Rare Case Highlighting Challenges That Remain.
Prior D et al.
Journal of Pediatric Hematology/oncology, 2024
Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations.
Li J et al.
International Journal of Laboratory Hematology, 2023
Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.
Gilad O et al.
Haematologica, 2022
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Grossi A et al.
Genes, 2021
Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.
Blombery P et al.
Haematologica, 2021
Computational Studies of the Structural Basis of Human RPS19 Mutations Associated With Diamond-Blackfan Anemia.
An K et al.
Frontiers in Genetics, 2021
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.
Aspesi A et al.
Human Mutation, 2018
Toward RNA Repair of Diamond Blackfan Anemia Hematopoietic Stem Cells.
D'Allard DL et al.
Human Gene Therapy, 2016
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.
Smetanina NS et al.
Pediatric Blood & Cancer, 2015
Ribosomopathies: how a common root can cause a tree of pathologies.
Danilova N et al.
Disease Models & Mechanisms, 2015
Analysis of the interactome of ribosomal protein S19 mutants.
Caterino M et al.
Proteomics, 2014
Dual functions of the C5a receptor as a connector for the K562 erythroblast-like cell-THP-1 macrophage-like cell island and as a sensor for the differentiation of the K562 erythroblast-like cell during haemin-induced erythropoiesis.
Nishiura H et al.
Clinical & Developmental Immunology, 2012
Modeling Diamond Blackfan anemia in the zebrafish.
Taylor AM et al.
Seminars in Hematology, 2011
Animal models of Diamond Blackfan anemia.
McGowan KA et al.
Seminars in Hematology, 2011
A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia.
Devlin EE et al.
Blood, 2010
Diamond-Blackfan anemia, ribosome and erythropoiesis.
Da Costa L et al.
Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2010
Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia.
Schuster J et al.
Blood Cells, Molecules & Diseases, 2010
Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.
Avondo F et al.
Bmc Genomics, 2009
Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia.
Crétien A et al.
Haematologica, 2008
A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.
Boria I et al.
Human Mutation, 2008
RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF et al.
Human Mutation, 2008
Deficient RPS19 protein production induces cell cycle arrest in erythroid progenitor cells.
Kuramitsu M et al.
British Journal of Haematology, 2008
Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.
Angelini M et al.
Human Molecular Genetics, 2007
Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19.
Gregory LA et al.
Nucleic Acids Research, 2007
Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein.
Chiocchetti A et al.
Haematologica, 2005
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.
Gazda HT et al.
British Journal of Haematology, 2004
Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature.
Campagnoli MF et al.
Haematologica, 2004
Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology.
Da Costa L et al.
Blood, 2003
Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia.
Hamaguchi I et al.
Blood, 2002
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
Draptchinskaia N et al.
Nature Genetics, 1999