Diamond Blackfan anemia: A paradigm for a ribosome-based disease
- 31 December 2006
- journal article
- Published by Elsevier in Medical Hypotheses
- Vol. 66 (3) , 643-648
- https://doi.org/10.1016/j.mehy.2005.09.010
Abstract
No abstract availableKeywords
This publication has 20 references indexed in Scilit:
- Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome SynthesisJournal of Biological Chemistry, 2005
- Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemiaBlood, 2005
- Two-phase culture in Diamond Blackfan anemia: localization of erythroid defectBlood, 2005
- RNA and protein evidence for haplo‐insufficiency in Diamond–Blackfan anaemia patients with RPS19 mutationsBritish Journal of Haematology, 2004
- The Treacher Collins syndrome ( TCOF1 ) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factorProceedings of the National Academy of Sciences, 2004
- Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneityBritish Journal of Haematology, 2004
- Dyskeratosis Congenita and Cancer in Mice Deficient in Ribosomal RNA ModificationScience, 2003
- Diamond–Blackfan anaemiaBest Practice & Research Clinical Haematology, 2000
- Diamond-Blackfan anemiaCurrent Opinion in Hematology, 2000
- The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemiaNature Genetics, 1999