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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Transcription profiling of human fibroblast cells from punch skin biopsies obtained from 2 MACS syndrome patients and 4 ethnically matched healthy controls.

ABSTRACT: We found a candidate region (with 55 known or predicted genes) that was found to linkage to the MACS syndrome. Because it is transmitted in an autosomal recessive fashion, and given the fact most recessive disorders are caused by loss-of-function mutations often resulting in decreased mRNA levels, we hypothesized that screening the expression of the various genes located within the disease interval may point to candidate genes of interest. We therefore established fibroblast cell lines from punch skin biopsies obtained from 2 patients and 4 ethnically matched healthy controls. We then compared global gene expression using microarrays in the 6 cell lines (all genes contained within the disease interval were represented on the array).

ORGANISM(S): Homo sapiens

SUBMITTER: Ofer Sarig

PROVIDER: E-TABM-735 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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