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

doi:10.1093/hmg/ddq337

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

Human molecular genetics - 1 Nov 2010

Visser W Edward, Swagemakers Sigrid M A, Ozgur Zeliha, Schot Rachel, Verheijen Frans W, van Ijcken Wilfred F J, van der Spek Peter J, Visser Theo J

Abstract excerpt

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...

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

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