The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Diamond Blackfan anemia: a model for the translational approach to understanding human disease
Abstract
Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome. As with the other rare inherited bone marrow failure syndromes, the study of these disorders provides important insights into basic biology and, in the case of DBA, ribosome biology; the disruption of which characterizes the disorder. Thus DBA serves as a paradigm for translational medicine in which the efforts of clinicians to manage DBA have informed laboratory scientists who, in turn, have stimulated clinical researchers to utilize scientific discovery to provide improved care. In this review we describe the clinical syndrome Diamond Blackfan anemia and, in particular, we demonstrate how the study of DBA has allowed scientific inquiry to create opportunities for progress in its understanding and treatment.
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Mutations in human ribosomal proteins, including RPS24, cause Diamond-Blackfan anemia (DBA).
“mutations in human ribosomal proteins (including RPS24) cause Diamond-Blackfan anemia (DBA, RPS24 is DBA3 MIM:610629)”
From A cis-regulatory-directed pipeline for the identification of genes involved in cardiac development and disease (2021) · cites this paper as [49]
DBA is a dominant Minute-like condition characterized by growth impairment, bone marrow failure, and congenital malformations with a high penetrance of CHD (~30%).
“a dominant Minute-like condition characterized by growth impairment, bone marrow failure, and congenital malformations with a high penetrance of CHD (~ 30%) [49, 50].”
From A cis-regulatory-directed pipeline for the identification of genes involved in cardiac development and disease (2021) · cites this paper as [49]
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Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia
Sankaran, V. G., Ghazvinian, R., Do, R., Thiru, P., Vergilio, J.-A., Beggs, A. H., Sieff, C. A., Orkin, S. H., Nathan, D. G., Lander, E. S., et al. (2012) · Journal of Clinical Investigation · doi:10.1172/jci63597 · Cited by 342
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Sorted by citations
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“sions.(166) These patients often develop substantial iron overload and require careful monitoring to detect this, as well as iron chelation therapy.”
BackgroundNim, H. T., Dang, L., Thiyagarajah, H., Bakopoulos, D., See, M., Charitakis, N., Sibbritt, T., Eichenlaub, M. P., Archer, S. K., Fossat, N., et al. (2021) · Genome Biology · doi:10.1186/s13059-021-02539-0 · Cited by 11
Metadata
- Authors
- Vlachos, A., Blanc, L., & Lipton, J. M.
- Venue
- Expert Review of Hematology
- Publisher
- Informa UK Limited
- Published
- 2014-03-26
- Volume
- 7
- Issue
- 3
- Pages
- 359-372
- ISSN
- 1747-4086
- 1747-4094
- Cited by
- 62
- References
- 1
- Language
- en
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