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Article

Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia.

Blood - 1 Dec 2011

Jaako Pekka, Flygare Johan, Olsson Karin, Quere Ronan, Ehinger Mats, Henson Adrianna, Ellis Steven, Schambach Axel, Baum Christopher, Richter Johan, Larsson Jonas, Bryder David, Karlsson Stefan

Abstract excerpt

Diamond-Blackfan anemia (DBA) is a congenital erythroid hypoplasia caused by a functional haploinsufficiency of genes encoding for ribosomal proteins. Among these genes, ribosomal protein S19 (RPS19) is mutated most frequently. Generation of animal models for diseases like DBA is challenging because the phenotype is highly dependent on the level of RPS19 down-regulation. We report the generation of mouse models...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21989989
DOI: 10.1182/blood-2011-08-371963

Genes

RPS19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia.PMID 21989989Read ↗

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Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia.Semantic proximity Read ↗

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Recent insights into the pathogenesis of Diamond-Blackfan anaemia.Semantic proximity Read ↗

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RPS19 mutations in patients with Diamond-Blackfan anemia.Semantic proximity Read ↗

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The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.Semantic proximity Read ↗

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