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TranscriptomicsWilliams-Beuren syndrome: typical deletions versus atypical deletions of the 7q11.23 region
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 ...
ORGANISM(S): Homo sapiens 
2010-09-09 | E-GEOD-18188 | biostudies-arrayexpress
ProteomicsCharacterisation of the gut microbiota metaproteome in patients affected by the Williams Beuren syndrome
Analyses were performed on stool samples collected from 41 patients affected by Williams Beuren syndrome (Wills, WBSs) to evaluate their gut microbiota metaproteome signatures by LFQ and LCA approaches in comparison to 45 healthy subjects (controls, CTRs, CTRLs)
ORGANISM(S): Bacteria (ncbitaxon:2) Homo Sapiens (ncbitaxon:9606) 
2023-01-11 | MSV000091045 | MassIVE
TranscriptomicsChanges in gene expression in BAZ1B knockout and heterozygous targeted clones
Williams syndrome transcription factor (WSTF) is a multifaceted protein that is involved in several nuclear processes, including replication, transcription, and the DNA damage response. WSTF participates in a chromatin-remodeling complex with the ISWI ATPase, SNF2H, and is thought to contribute to t...
ORGANISM(S): Homo sapiens 
2014-05-21 | E-GEOD-47390 | biostudies-arrayexpress
TranscriptomicsTransgenic expression of BEN, a member of TFII-I family, in various murine adipose tissues
The white adipose organ is composed of both subcutaneous and several intra-abdominal depots. Excess abdominal adiposity is a major risk factor for metabolic disease in rodents and humans, while expansion of subcutaneous fat does not carry the same risks. Brown adipose produces heat as a defense agai...
ORGANISM(S): Mus musculus 
2018-01-10 | E-MTAB-4163 | biostudies-arrayexpress
GenomicsGenome-wide maps of chromatin state in Williams-Beuren (WBS), Williams-Beuren Region duplication (WBRdupS), Smith-Magenis (DGS), DiGeorge (DGS) lymphoblastoid cell lines
Copy number variants (CNV) influence the expression of genes that map not only within, but also on their 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...
ORGANISM(S): Homo sapiens 
2013-11-16 | E-GEOD-33784 | biostudies-arrayexpress
TranscriptomicsRNA-seq of human iPSCs derived neural crest stem cells (NCSCs) upon knock-down of BAZ1B (WSTF), including 3 williams beuren syndrome lines, 1 atypical deletion line, and 3 individuals with 7q11.23 duplication syndrome. Each line has been infected with a scramble, or at least one of two short-hairpins (as described in the coupled paper).
In order to dissect the role of BAZ1B in the paradigmatic craniofacial dysmorphisms that characterize Williams Beuren Syndrome and the simmetrical genetically opposite 7q11.23 duplication syndrome(7dupASD), we selected a large cohort of NCSCs lines (4 from WBS patients, 3 from 7dupASD patients and ...
ORGANISM(S): Homo sapiens 
2020-02-29 | E-MTAB-8455 | biostudies-arrayexpress
UnknownDiversity and complexity in chromatin recognition by TFII-I transcription factors in pluripotent embryonic stem cells and embryonic tissues.
Not available
S-EPMC3438194 | biostudies-literature
TranscriptomicsRNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndrome
Using a targeted Gtf2ird1 knockout mouse, we employed massively-parallel sequencing of mRNA (RNA-Seq) to understand changes in the transcriptional landscape associated with inactivation of Gtf2ird1 in lip tissue. We found widespread dysregulation of genes including differential expression of 78 tran...
ORGANISM(S): Mus musculus 
2016-08-03 | E-GEOD-81082 | biostudies-arrayexpress
UnknownThe cutaneous lipid composition of bat wing and tail membranes: a case of convergent evolution with birds.
Not available
S-EPMC4936036 | biostudies-literature
TranscriptomicsProfiling of gender-regulated gene transcripts in the filarial nematode Brugia malayi by oligonucleotide array analysis
Microarray technology permits high throughput comparisons of gene expression in different parasite stages or sexes. We now report the first use of this technology for analysis of gene expression in filarial worms. The slide array (comprised of 65 mer oligos representing 3569 EST clusters) was spotte...
ORGANISM(S): Brugia malayi 
2010-06-10 | E-GEOD-2038 | biostudies-arrayexpress
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