Increased Wnt and Notch signaling: A clue to the renal disease in Schimke immuno-osseous dysplasia? [array]
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ABSTRACT: Schimke immuno-osseous dysplasia (SIOD) is a multisystemic disorder caused by biallelic mutations in SWI/SNF-related matrix associated actin-dependent regulator of chromatin, subfamily A-like protein 1 (SMARCAL1). Changes in gene expression appear to underlie the immunodeficiency and arteriosclerosis of SIOD; therefore, we hypothesized that SMARCAL1 deficiency alters renal gene expression to cause the focal segmental glomerulosclerosis (FSGS) of SIOD, and that these gene expression alterations would be comparable to those observed in isolated FSGS. We tested this hypothesis by gene expression microarray analysis.
ORGANISM(S): Homo sapiens
PROVIDER: GSE81156 | GEO | 2016/10/31
SECONDARY ACCESSION(S): PRJNA320766
REPOSITORIES: GEO
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