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Diamond-Blackfan anemia: erythropoiesis lost in translation.

Flygare, Johan LU and Karlsson, Stefan LU (2007) In Blood 109(8). p.3152-3160
Abstract
Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents as macrocytic anemia during infancy. Linkage analysis suggests that at least 4 genes are associated with DBA of which 2 have been identified so far. The known DBA genes encode the ribosomal proteins S19 and S24 accounting for 25% and 2% of the patients, respectively. Herein, we review possible links between ribosomal proteins and erythropoiesis that might explain DBA pathogenesis. Recent studies and emerging findings suggest that a malfunctioning translational machinery may be a cause of anemia in patients with DBA.
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Blood
volume
109
issue
8
pages
3152 - 3160
publisher
American Society of Hematology
external identifiers
  • wos:000245658500016
  • scopus:34147144995
ISSN
1528-0020
DOI
10.1182/blood-2006-09-001222
language
English
LU publication?
yes
id
f28ebbec-992a-4f8e-9a5b-8574157ec3b2 (old id 164049)
alternative location
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17164339&dopt=Abstract
date added to LUP
2007-07-11 11:13:58
date last changed
2017-07-23 03:51:58
@article{f28ebbec-992a-4f8e-9a5b-8574157ec3b2,
  abstract     = {Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents as macrocytic anemia during infancy. Linkage analysis suggests that at least 4 genes are associated with DBA of which 2 have been identified so far. The known DBA genes encode the ribosomal proteins S19 and S24 accounting for 25% and 2% of the patients, respectively. Herein, we review possible links between ribosomal proteins and erythropoiesis that might explain DBA pathogenesis. Recent studies and emerging findings suggest that a malfunctioning translational machinery may be a cause of anemia in patients with DBA.},
  author       = {Flygare, Johan and Karlsson, Stefan},
  issn         = {1528-0020},
  language     = {eng},
  number       = {8},
  pages        = {3152--3160},
  publisher    = {American Society of Hematology},
  series       = {Blood},
  title        = {Diamond-Blackfan anemia: erythropoiesis lost in translation.},
  url          = {http://dx.doi.org/10.1182/blood-2006-09-001222},
  volume       = {109},
  year         = {2007},
}