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Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses

14 Jul 2009

Abstract excerpt

Shwachman-Diamond syndrome (SDS; OMIM 260400) results from loss-of-function mutations in the Shwachman-Bodian Diamond syndrome (SBDS) gene. It is a multi-system disorder with clinical features of exocrine pancreatic dysfunction, skeletal abnormalities, bone marrow failure and predisposition to leukemic transformation. Although the cellular functions of SBDS are still unclear, its yeast ortholog has been...

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PMID: 19602484
DOI: 10.1093/hmg/ddp316

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Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responsesPMID 19602484Read ↗

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

The Shwachman-Bodian-Diamond Syndrome Protein Family Is Involved in RNA MetabolismSemantic proximity Read ↗

Dual regulation of p53 by the ribosome maturation factor SBDSSemantic proximity Read ↗

SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention.Semantic proximity Read ↗

Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advancesSemantic proximity Read ↗

SBDS Gene Mutation Increases ROS Production and Causes DNA Damage as Well as Oxidation of Mitochondrial Membranes in the Murine Myeloid Cell Line 32Dcl3.Semantic proximity Read ↗

The Shwachman-Diamond SBDS protein localizes to the nucleolus.Semantic proximity Read ↗

The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast.Semantic proximity Read ↗

Hog1/p38 and ZAKα drive Shwachman-Diamond syndrome and provide targets to improve cell growthSemantic proximity Read ↗

Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.Semantic proximity Read ↗

Mutations in SBDS are associated with Shwachman-Diamond syndrome.Semantic proximity Read ↗

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