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Article

Translational efficiency in patients with Diamond-Blackfan anemia.

Haematologica - 1 Nov 2006

Cmejlova Jana, Dolezalova Ludmila, Pospisilova Dagmar, Petrtylova Kvetoslava, Petrak Jiri, Cmejla Radek

Abstract excerpt

BACKGROUND AND OBJECTIVES: Diamond-Blackfan anemia (DBA) is a rare congenital pure red cell aplasia characterized by normochromic macrocytic anemia, reticulocytopenia, and normocellular bone marrow with a selective deficiency of erythroid precursors. Ribosomal protein S19 (RPS19), currently the o...

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Source

Identifiers

PMID: 17082006

Genes

RPS19

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17082006-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Translational efficiency in patients with Diamond-Blackfan anemia.PMID 17082006Read ↗

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

Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia.Semantic proximity Read ↗

5'UTR variants of ribosomal protein S19 transcript determine translational efficiency: implications for Diamond-Blackfan anemia and tissue variability.Semantic proximity Read ↗

Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.Semantic proximity Read ↗

Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production.Semantic proximity Read ↗

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

Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein.Semantic proximity Read ↗

Impaired ribosome biogenesis in Diamond-Blackfan anemia.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 ↗

The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review.Semantic proximity Read ↗

Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts.Semantic proximity Read ↗

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