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Article

Schimke immuno-osseous dysplasia: a cell autonomous disorder?

American journal of medical genetics. Part A - 15 Feb 2006

Elizondo Leah I, Huang Cheng, Northrop Jennifer L, Deguchi Kimiko, Clewing Johanna M, Armstrong Dawna L, Boerkoel Cornelius F

Abstract excerpt

SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like protein 1) encodes a SWI/SNF ATP-dependent chromatin remodeling protein. Mutations in SMARCAL1 cause the autosomal-recessive multisystem disorder Schimke immuno-osseous dysplasia (SIOD); this suggests that the SMARCAL1 protein is involved in the development or maintenance of multiple organs. Disease within these...

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Identifiers

PMID: 16419127
DOI: 10.1002/ajmg.a.31089

Genes

SMARCAL1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Schimke immuno-osseous dysplasia: a cell autonomous disorder?PMID 16419127Read ↗

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Generation of inducible SMARCAL1 knock-down iPSC to model severe Schimke immune-osseous dysplasia reveals a link between replication stress and altered expression of master differentiation genesSemantic proximity Read ↗

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Different Phenotypes of Schimke Immuno-Osseous Dysplasia (SIOD) in Two Sisters with the Same Mutation in the SMARCAL1 Gene.Semantic proximity Read ↗

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