Sample Set Annotation Tool: Increased Wnt and Notch signaling: A clue to the renal disease in Schimke immuno-osseous dysplasia?. GSE81156

Study Design
Assay
Sample Info
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Info
Samples
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Analysis

Purpose

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.

Hypothesis

Experimental Design

Comparison of gene expression between the cultured primary renal proximal tubular cells of a Schimke immuno-osseous dysplasia (SIOD) patient and of a patient with non-SIOD-associated FSGS

Experimental Variables

Controls

Methods

Additional Information

Expected Samples:

5 Samples Loaded: 5

Species

Human (Homo sapiens)

Sample Source

Kidney Biopsy

Disease

SMARCAL1 deficiency

Treatment Protocol

Growth Protocol

Extraction Protocol

Storage Conditions

Sample Set Spreadsheet

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Samples Preview

Sample ID	!Sample Title	!Sample_title	Sex	group	siod disease status
GSM2143913	Non-SIOD FSGS control, biological replicate 1	Non-SIOD FSGS control, biological replicate 1	Female	Unaffected	Unaffected
GSM2143914	Non-SIOD FSGS control, biological replicate 2	Non-SIOD FSGS control, biological replicate 2	Female	Unaffected	Unaffected
GSM2143915	SIOD FSGS, biological replicate 1	SIOD FSGS, biological replicate 1	Female	SIOD	SIOD
GSM2143916	SIOD FSGS, biological replicate 2	SIOD FSGS, biological replicate 2	Female	SIOD	SIOD
GSM2143917	SIOD FSGS, biological replicate 3	SIOD FSGS, biological replicate 3	Female	SIOD	SIOD

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File
sampleset4000046_sampleannotations_Group.csv Sample Set Spreadsheet

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Sample ID	!Sample Title	!Sample Title	Sex	Group	Siod disease status	Age at biopsy	Sex	Age at biopsy	Siod disease status
GSM2143913	Non-SIOD FSGS control, biological replicate 1	Non-SIOD FSGS control, biological replicate 1	Female	Unaffected	Unaffected	< 10 years	Female	< 10 years	Unaffected
GSM2143914	Non-SIOD FSGS control, biological replicate 2	Non-SIOD FSGS control, biological replicate 2	Female	Unaffected	Unaffected	< 10 years	Female	< 10 years	Unaffected
GSM2143915	SIOD FSGS, biological replicate 1	SIOD FSGS, biological replicate 1	Female	SIOD	SIOD	4.75 years	Female	4.75 years	SIOD
GSM2143916	SIOD FSGS, biological replicate 2	SIOD FSGS, biological replicate 2	Female	SIOD	SIOD	4.75 years	Female	4.75 years	SIOD
GSM2143917	SIOD FSGS, biological replicate 3	SIOD FSGS, biological replicate 3	Female	SIOD	SIOD	4.75 years	Female	4.75 years	SIOD

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SIDRA