Sort   by:  
 Page size 
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
TranscriptomicsExpression profiling in Williams-Beuren Syndrome patient fibroblast cell lines
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 o...
ORGANISM(S): Homo sapiens 
2011-01-31 | E-GEOD-16715 | biostudies-arrayexpress
MetabolomicsA metabolomic study of adipose tissue in mice with a disruption of the circadian system

Adipose tissue functions in terms of energy homeostasis as a rheostat for blood triglyceride, regulating its concentration, in response to external stimuli. In addition it acts as a barometer to inform the central nervous system of energy levels which can vary dramatically between meals and accor...

2017-10-27 | MTBLS382 | MetaboLights
MetabolomicsA cytochrome P450 CYP87A4 imparts sterol side-chain cleavage in digoxin biosynthesis
Digoxin extracted from the foxglove plant is a widely prescribed natural product for treating heart failure. It is listed as an essential medicine by the World Health Organization. However, how the foxglove plant synthesizes digoxin is mostly unknown, especially the cytochrome P450 sterol side chain...
2025-07-03 | MTBLS7993 | MetaboLights
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
MetabolomicsUntargeted In Silico Compound Classification - A Novel Metabolomics Method to Assess the Chemodiversity in Bryophytes

In plant ecology, biochemical analyses of bryophytes and vascular plants are often conducted on dried herbarium specimen as species typically grow in distant and inaccessible locations. Here, we present an automated in silico compound classification framework to annotate metabolites using an unta...

2026-01-30 | MTBLS851 | MetaboLights
MetabolomicsAtlas of one-carbon metabolism in conventional and germ-free mice reveals folate as a key determinant of biochemical pathways

Folates participate in the one-carbon metabolism (OCM) cycle, supporting many biochemical pathways. Existing methods to profile folate are limited in the diversity of vitamers they measure and the samples they profile. We present a metabolomics workflow for stable extraction, separation, and meas...

2026-02-10 | MTBLS13484 | MetaboLights
MetabolomicsSarcopenic metabolomic profile reflected a sarcopenic phenotype associated with amino acid and essential fatty acid changes

INTRODUCTION: Although sarcopenia greatly affects health and quality of life in older people, its pathophysiological causes are not fully elucidated. To face this challenge, omics technologies can be used. The metabolome gives a vision of the interaction between the genome and t...

2021-09-29 | MTBLS2679 | MetaboLights
UnknownWilliams syndrome hemideletion and LIMK1 variation both affect dorsal stream functional connectivity.
Not available
S-EPMC6906590 | biostudies-literature
UnknownDysfunctional Mitochondria in the Cardiac Fibers of a Williams-Beuren Syndrome Mouse Model.
Not available
S-EPMC10298715 | biostudies-literature
Sort   by:  
 Page size