Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Blood - 5 Jan 2012

Horos Rastislav, Ijspeert Hanna, Pospisilova Dagmar, Sendtner Regine, Andrieu-Soler Charlotte, Taskesen Erdogan, Nieradka Andrzej, Cmejla Radek, Sendtner Michael, Touw Ivo P, von Lindern Marieke

Abstract excerpt

Diamond-Blackfan anemia (DBA) is associated with developmental defects and profound anemia. Mutations in genes encoding a ribosomal protein of the small (e.g., RPS19) or large (e.g., RPL11) ribosomal subunit are found in more than half of these patients. The mutations cause ribosomal haploinsuffi...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anemia, Diamond-Blackfan
Share to Embryo, Mammalian

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Erythroblasts

Share to Polyribosomes

Share to Protein Biosynthesis

Share to Ribosomal Proteins

Share to RNA-Binding Proteins

Share to RNA, Small Interfering

Source

Identifiers

PMID: 22058113
DOI: 10.1182/blood-2011-06-358200

Genes

BAG1
CSDE1
RPL11
RPS19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22058113-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts.PMID 22058113Read ↗

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

Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients.Semantic proximity Read ↗

Altered translation of GATA1 in Diamond-Blackfan anemia.Semantic proximity Read ↗

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in 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 ↗

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

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia.Semantic proximity Read ↗

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 ↗

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

Diamond Blackfan anemia: ribosomal proteins going rogue.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.