Homo sapiens
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ABSTRACT:
PROVIDER: PRJNA117473 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description: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
2011-01-31 | GSE16715 | GEO
Project description:JZL184 treatment restores neurological and cardiac phenotypes of a mouse model of Williams-Beuren syndrome
2022-10-11 | GSE164257 | GEO
Project description:We have performed comparative transcriptome profile from lymphoblastoid cell lines from four Williams-Beuren syndrome patients and two patients with partial deletions of the region. The goal was to find deregulated genes specifically in WBS versus atypical deletions, and to determine the biological pathways affected in WBS patients.
2010-09-09 | GSE18188 | GEO
Project description: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.
2011-01-31 | E-GEOD-16715 | biostudies-arrayexpress
Project description:Genome-wide maps of chromatin state in Williams-Beuren (WBS), Williams-Beuren Region duplication (WBRdupS), Smith-Magenis (DGS), DiGeorge (DGS) lymphoblastoid cell lines
| PRJNA148607 | ENA
Project description:Copy number variants (CNVs) influence the expression of genes that map not only within the rearrangement, but also to its flanks. To assess the possible mechanism(s) underlying this “neighboring effect”, we compared intrachromosomal interactions and histone modifications in cell lines of patients affected by genomic disorders and control individuals. Using chromosome conformation capture (4C-seq), we observed that a set of genes flanking the Williams-Beuren Syndrome critical region (WBSCR) were often looping together, possibly forming an interacting cluster with each other and the WBSCR. Deletion of the WBSCR disrupts the expression of this group of flanking genes, as well as long-range interactions between them and the rearranged interval. We also pinpointed concomitant changes in histone modifications between samples.We conclude that large genomic rearrangements can lead to chromatin conformation changes that extend far away from the structural variant, thereby possibly modulating expression globally and modifying the phenotype. For example, we determined that the chromatin conformation, histone marks and relative expression levels of the flanking AUTS2 gene, mutations of which are associated with autism and intellectual disabilities, are modified in cell lines from Williams-Beuren syndrome patients. Examination of 4C-seq interaction profile of seven different genes (of which three in duplicate) in 2 different cell lines.
2013-11-20 | E-GEOD-33867 | biostudies-arrayexpress
Project description:Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome
| PRJNA280211 | ENA
Project description:Comparison of Hutchinson–Gilford Progeria Syndrome fibroblast cell lines to control fibroblast cell lines
| PRJNA94089 | ENA
Project description:We have performed comparative transcriptome profile from lymphoblastoid cell lines from four Williams-Beuren syndrome patients and two patients with partial deletions of the region. The goal was to find deregulated genes specifically in WBS versus atypical deletions, and to determine the biological pathways affected in WBS patients. 6 samples were hybridized twice each: once labeled with Cy5 and once labeled with Cy3 (dye-swap). Each sample was hybridized against a pool of five controls of the same gender.
2010-09-09 | E-GEOD-18188 | biostudies-arrayexpress