Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Expression profiling in Williams-Beuren Syndrome patient fibroblast cell lines

ABSTRACT: Williams-Beuren Syndrome (WBS) is a neurodevelopmental disorder caused by aa 1.5 Mb microdeletion on human chromosome 7. Although the molecular cause of the disorder is well-established, little is known about the global impact of the deletion on gene expression. Here we profiled the transcriptomes of fibroblast cell lines from 8 young girls with WBS, and 9 sex- and age-matched control individuals Keywords: disease state analysis, gene expression profiling Skin fibroblast of 8 WBS and 9 control individuals were obtained from the cell culture collections of the “Centre de Biotechnologie Cellulaire, Hospices Civils de Lyon, Hôpital Debrousse”, Lyon, France. Appropriate informed consent was obtained for each sample by the physicians in charge. Human skin fibroblasts were grown in HAM F-10, supplemented with 10% fetal bovine serum and 1% antibiotics (Invitrogen). Total RNA was prepared using TriZOL Reagent (Invitrogen) and RNeasy Mini Columns (Qiagen) according to the manufacturers’ instructions.

ORGANISM(S): Homo sapiens

SUBMITTER: Charlotte Henrichsen 

PROVIDER: E-GEOD-16715 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome.

Henrichsen Charlotte N CN   Csárdi Gábor G   Zabot Marie-Thérèse MT   Fusco Carmela C   Bergmann Sven S   Merla Giuseppe G   Reymond Alexandre A  

PLoS computational biology 20110120 1

The genetic dissection of the phenotypes associated with Williams-Beuren Syndrome (WBS) is advancing thanks to the study of individuals carrying typical or atypical structural rearrangements, as well as in vitro and animal studies. However, little is known about the global dysregulations caused by the WBS deletion. We profiled the transcriptomes of skin fibroblasts from WBS patients and compared them to matched controls. We identified 868 differentially expressed genes that were significantly en  ...[more]

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