Associated Papers
DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome.
Quarello P et al.
American Journal of Hematology, 2026
41247002 (PubMed )
Supplement: AJH-101-228-s001.docx
Genotype-phenotype associations in individuals with Diamond Blackfan anaemia.
Gianferante DM et al.
Ejhaem, 2024
39691264 (PubMed )
Supplement: JHA2-5-1117-s001.pdf
RPS19 and RPL5, the most commonly mutated genes in Diamond Blackfan anemia, impact DNA double-strand break repair.
DeCleene NF et al.
Biorxiv : the Preprint Server for Biology, 2024
39416207 (PubMed )
Supplement: media-1.pdf
Calmodulin inhibitors improve erythropoiesis in Diamond-Blackfan anemia.
Taylor AM et al.
Science Translational Medicine, 2020
Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.
Bezzerri V et al.
International Journal of Molecular Sciences, 2020
A Phenotypic Screening Assay Identifies Modulators of Diamond Blackfan Anemia.
Siva K et al.
Slas Discovery : Advancing Life Sciences R & D, 2019
Osteosarcoma: Molecular Pathogenesis and iPSC Modeling.
Lin YH et al.
Trends in Molecular Medicine, 2017
Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors.
Doulatov S et al.
Science Translational Medicine, 2017
Glucocorticoids improve erythroid progenitor maintenance and dampen Trp53 response in a mouse model of Diamond-Blackfan anaemia.
Sjögren SE et al.
British Journal of Haematology, 2015
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.
Gerrard G et al.
British Journal of Haematology, 2013
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
Boria I et al.
Human Mutation, 2010
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
RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF et al.
Human Mutation, 2008
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
Draptchinskaia N et al.
Nature Genetics, 1999
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