Transcriptomics,Genomics

Dataset Information

17

Gene expression profiles of fibroblasts from MCT8 patients


ABSTRACT: Thyroid hormone is crucial for normal brain development. Thyroid hormone transporters control thyroid hormone homeostatis in brain. Mutations in the thyroid hormone transporter MCT8 result in a complex endocrine and neurological phenotype. We investigated the mechanisms of disease by analyzing gene expression profiles in fibroblasts from patients with mutations in MCT8. Performing comparative transcriptome analysis, we linked the genes differentially expressed in patient fibroblasts to the human brain transcriptome. Overall design: Skin fibroblasts of controls and patients were cultured in different thyroid states for 24 h.

INSTRUMENT(S): [HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array

SUBMITTER: W Edward Visser   

PROVIDER: GSE20538 | GEO | 2010-08-23

SECONDARY ACCESSION(S): PRJNA125289

REPOSITORIES: GEO

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Publications

Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome.

Visser W Edward WE   Swagemakers Sigrid M A SM   Ozgur Zeliha Z   Schot Rachel R   Verheijen Frans W FW   van Ijcken Wilfred F J WF   van der Spek Peter J PJ   Visser Theo J TJ  

Human molecular genetics 20100812 21


Thyroid hormone (TH) is crucial for normal brain development. TH transporters control TH homeostasis in brain as evidenced by the complex endocrine and neurological phenotype of patients with mutations in monocarboxylate transporter 8 (MCT8). We investigated the mechanisms of disease by analyzing gene expression profiles in fibroblasts from patients with MCT8 mutations. Studying MCT8 and its transcriptional context in different comprehensive spatial and temporal human brain transcriptome data se  ...[more]

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