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Article

Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation.

Molecular and cellular biology - 1 May 2004

Matsson Hans, Davey Edward J, Draptchinskaia Natalia, Hamaguchi Isao, Ooka Andreas, Levéen Per, Forsberg Erik, Karlsson Stefan, Dahl Niklas

Abstract excerpt

The ribosomal protein S19 (RPS19) is located in the small (40S) subunit and is one of 79 ribosomal proteins. The gene encoding RPS19 is mutated in approximately 25% of patients with Diamond-Blackfan anemia, which is a rare congenital erythroblastopenia. Affected individuals present with decreased numbers or the absence of erythroid precursors in the bone marrow, and associated malformations of various organs are...

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Share to Anemia, Diamond-Blackfan
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 15082795
DOI: 10.1128/MCB.24.9.4032-4037.2004
PMCID: PMC387766

Genes

RPS19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation.PMID 15082795Read ↗

Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia.Semantic proximity Read ↗

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

Defects of protein production in erythroid cells revealed in a zebrafish Diamond-Blackfan anemia model for mutation in RPS19.Semantic proximity Read ↗

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

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

RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.Semantic proximity Read ↗

Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits.Semantic proximity Read ↗

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 ↗

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

A novel nucleolar protein interacts with ribosomal protein S19.Semantic proximity Read ↗

Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis.Semantic proximity Read ↗

Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia.Semantic proximity Read ↗

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