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
An Optimized NGS Workflow Defines Genetically Based Prognostic Categories for Patients with Uveal Melanoma.
Massimino M et al.
Biomolecules, 2025
39858540 (PubMed )
Supplement: biomolecules-15-00146-s001.zip › Table_S6.xlsx › SNV_INDELs_UM
Regulated GATA1 expression as a universal gene therapy for Diamond-Blackfan anemia.
Voit RA et al.
Cell Stem Cell, 2025
39532107 (PubMed )
Supplement: NIHMS2031095-supplement-1.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
Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia.
van Dooijeweert B et al.
British Journal of Haematology, 2021
Cancer-associated mutations in the ribosomal protein L5 gene dysregulate the HDM2/p53-mediated ribosome biogenesis checkpoint.
Oršolić I et al.
Oncogene, 2020
lncRNA MIR100HG-derived miR-100 and miR-125b mediate cetuximab resistance via Wnt/β-catenin signaling.
Lu Y et al.
Nature Medicine, 2017
Role of ribosomal protein mutations in tumor development (Review).
Goudarzi KM et al.
International Journal of Oncology, 2016
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
Boria I et al.
Human Mutation, 2010
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