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MetabolomicsInteraction of Genetic Variants Activates Latent Metabolic Pathways in Yeast

Genetic interactions are fundamental to the architecture of complex traits, yet the molecular mechanisms by which variant combinations influence cellular pathways remain poorly understood. Here, we answer the question of whether interactions between genetic variants can activate unique pathways a...

2025-07-22 | MTBLS12761 | MetaboLights
MetabolomicsRare and common genetic determinants of metabolic individuality and their effects on human health (EPIC-Norfolk study assays)

Garrod’s concept of “chemical individuality” has contributed to comprehension of the molecular origins of human diseases. Untargeted high-throughput metabolomic technologies provide an in-depth snapshot of human metabolism at scale. We studied the genetic architecture of the human plasma metabolo...

2022-09-09 | MTBLS833 | MetaboLights
MetabolomicsSex differences modulate blood metabolome profiles in Parkinson’s disease patients harbouring rare genetic variants

Background: Recent findings from our group indicate that sex differences in Parkinson's disease (PD) patients with idiopathic conditions or carrying pathogenic mutations significantly influence the blood occurrence of D and L-amino acids, lipids, antioxidants, and energy-related metabolites when ...

2026-06-26 | MTBLS12746 | MetaboLights
MetabolomicsRare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

We investigated the cumulative contribution of rare, exonic genetic variants on the concentration of 1,487 metabolites and 53,714 metabolite ratios in urine by performing gene-based tests based on 226,233 variants from up to 4,864 participants of the German Chronic Kidney Disease (GCKD)...

2021-03-09 | MTBLS284 | MetaboLights
MetabolomicsRare and common genetic determinants of metabolic individuality and their effects on human health (INTERVAL study assays)

Garrod’s concept of “chemical individuality” has contributed to comprehension of the molecular origins of human diseases. Untargeted high-throughput metabolomic technologies provide an in-depth snapshot of human metabolism at scale. We studied the genetic architecture of the human plasma metabolo...

2022-09-09 | MTBLS834 | MetaboLights
MetabolomicsSystemic Inflammation Induces Cholestasis via Upregulating a Short Variant of FTO to Remove the m6A Methylation in the 3’-UTR of Cyp7b1 mRNAs in liver
The cholestasis frequently occurs in patients with inflammatory processes. However, the mechanisms of inflammation in inducing cholestasis are still unclear. Here, by using lipopolysaccharide (LPS)-induced cholestasis mouse models, we found that most genes encoding enzymes responsible for bile acid ...
2025-11-07 | MTBLS10713 | MetaboLights
ProteomicsPeptide mapping and intact mass analysis of RBD protein from a SARS-CoV-2 omicron variant (RBDom)
RBD protein from the SARS-CoV-2 omicron variant (RBDom) was produced in Komagataella phaffii. Peptide mapping and intact mass analysis of RBDom were performed by LC/MS. Proteins were identified using BioPharma Finder software.
ORGANISM(S): Komagataella Phaffii 
2024-10-30 | PXD057342 | JPOST Repository
ProteomicsGenetically Variant Peptide Biomarkers from Fingermarks
This dataset results from the discovery, characterization and validation of 74 genetically variant peptides from fingermark protein. These peptides contain single amino acid polymorphisms, the result of non-synonymous SNPs. Detection of these peptide markers in fingermark proteomic datasets allows i...
ORGANISM(S): Homo sapiens (Human) 
2019-06-19 | PXD012628 | Pride
Fingermarks Genetically variant peptides Forensic science Proteomics Epidermal corneocytes 
Proteomics,MultiomicsDefining the effects of genetic variation on a proteome-wide scale
Genetic variation governs protein expression through both transcriptional and post-transcriptional processes. To investigate this relationship, we combined a multiplexed, mass spectrometry-based method for protein quantification with an emerging mouse model harboring extensive genetic variation fro...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2017-11-08 | MSV000081696 | MassIVE
GenomicsEffect of Fnip2 genetic variant in mouse tissues
Effect of Fnip2 genetic variant in mouse tissues
PRJNA825543 | ENA
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