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:
https://lup.lub.lu.se/record/164049
- author
- Flygare, Johan
LU
and Karlsson, Stefan
LU
- organization
- publishing date
- 2007
- 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
- pmid:17164339
- 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
- 2016-04-01 12:21:15
- date last changed
- 2022-01-27 02:37:31
@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}},
doi = {{10.1182/blood-2006-09-001222}},
volume = {{109}},
year = {{2007}},
}