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Article

Altered translation of GATA1 in Diamond-Blackfan anemia.

Nature medicine - 1 Jul 2014

Ludwig Leif S, Gazda Hanna T, Eng Jennifer C, Eichhorn Stephen W, Thiru Prathapan, Ghazvinian Roxanne, George Tracy I, Gotlib Jason R, Beggs Alan H, Sieff Colin A, Lodish Harvey F, Lander Eric S, Sankaran Vijay G

Abstract excerpt

Ribosomal protein haploinsufficiency occurs in diverse human diseases including Diamond-Blackfan anemia (DBA), congenital asplenia and T cell leukemia. Yet, how mutations in genes encoding ubiquitously expressed proteins such as these result in cell-type- and tissue-specific defects remains unkno...

Read the complete abstract on PubMed

Topics

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Share to Anemia, Diamond-Blackfan
Share to GATA1 Transcription Factor
Share to GATA1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to RPS19 gene

Share to Mutation

Share to Protein Biosynthesis

Share to Ribosomal Proteins

Share to RNA, Messenger

Source

Open in PubMed Open full text

Identifiers

PMID: 24952648
DOI: 10.1038/nm.3557
PMCID: PMC4087046

Genes

GATA1
RPS19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24952648-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Research trail→

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Altered translation of GATA1 in Diamond-Blackfan anemia.PMID 24952648Read ↗

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

GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease.Semantic proximity Read ↗

Regulation of GATA1 levels in erythropoiesisSemantic proximity Read ↗

Diamond Blackfan anemia: A paradigm for a ribosome-based disease.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 ↗

Molecular convergence in ex vivo models of Diamond-Blackfan anemia.Semantic proximity Read ↗

Diamond Blackfan anemia 2008-2009: broadening the scope of ribosome biogenesis disorders.Semantic proximity Read ↗

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

Downregulation of GATA1 drives impaired hematopoiesis in primary myelofibrosisSemantic proximity Read ↗

Ribosomopathies: how a common root can cause a tree of pathologies.Semantic proximity Read ↗

Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia.Semantic proximity Read ↗

Alternative translation initiation site usage results in two functionally distinct forms of the GATA-1 transcription factor.Semantic proximity Read ↗

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