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Article

Defective ribosome assembly in Shwachman-Diamond syndrome.

Blood - 20 Oct 2011

Wong Chi C, Traynor David, Basse Nicolas, Kay Robert R, Warren Alan J

Abstract excerpt

Shwachman-Diamond syndrome (SDS), a recessive leukemia predisposition disorder characterized by bone marrow failure, exocrine pancreatic insufficiency, skeletal abnormalities and poor growth, is caused by mutations in the highly conserved SBDS gene. Here, we test the hypothesis that defective rib...

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Source

Identifiers

PMID: 21803848
DOI: 10.1182/blood-2011-06-353938

Genes

SBDS
SDS
EFL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21803848-2026-09-04.2. 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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Defective ribosome assembly in Shwachman-Diamond syndrome.PMID 21803848Read ↗

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Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.Semantic proximity Read ↗

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndromeSemantic proximity Read ↗

Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.Semantic proximity Read ↗

The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA.Semantic proximity Read ↗

Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytesSemantic proximity Read ↗

Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome.Semantic proximity Read ↗

Functional impact of the eIF6 N106S mutation on ribosome biogenesis in wild type and Shwachman-Diamond syndrome cells.Semantic proximity Read ↗

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