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MetabolomicsMetabolomics-Driven Discovery of an Introduced Species and Two Malaysian Piper betle L. Variants
The differences in pungency of 'sirih' imply the probable occurrence of several variants of Piper betle L. in Malaysia. However, the metabolite profiles underlying the pungency of the different variants remain a subject of further research. The differences in metabolite profiles of selected M...
2022-03-21 | MTBLS2585 | MetaboLights
MetabolomicsLipidomics of hormone-sensitive lipase variants
Not available
ORGANISM(S): Homo sapiens 
ST000662 | MetabolomicsWorkbench
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
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
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
MetabolomicsUrine metabolomic profiling in two siblings with biallelic pathogenic ATG7 variants with healthy control
Ultra-rare biallelic ATG7 variants were recently reported in five families presenting with neurodevelopmental disorders. Two adult female siblings (P1 and P2) from one family carried compound heterozygous loss-of-function variants (c.1975C>T [p.Arg659]; c.2080-2A>G, 39,40NM_006395.2), resulting in u...
2026-09-30 | MTBLS15856 | MetaboLights
MetabolomicsCiprofloxacin-induced metabolic disruption and stringent response drives persistent small-colony variants in Staphylococcus aureus

Antibiotic treatment failure in Staphylococcus aureus infections is frequently associated with antimicrobial resistance or the emergence of small-colony variants (SCVs), a metabolically quiescent phenotype that complicates infection management. Here, we show that ciprofloxacin induces a stable SC...

2025-11-19 | MTBLS13343 | MetaboLights
MetabolomicsTranscript variants of long-chain acyl-CoA synthase 1 have distinct roles in sheep lipid metabolism
Mutton has recently been identified to be a consumer favorite, and intermuscular fat is the key factor in determining meat tenderness. Long-chain acyl-CoA synthetase 1 (ACSL1) is a vital subtype of the ACSL family that is involved in the synthesis of lipids from acyl-CoA and the oxidation of fatty a...
2023-02-06 | MTBLS5808 | MetaboLights
ProteomicsH2B variants expression during iAs-mediated EMT
This work details the first global mass spectrometric analysis of histone H2B variants as cells undergo arsenic-mediated epithelial to mesenchymal transition.
ORGANISM(S): Homo sapiens (Human) 
2016-05-17 | PXD003503 | Pride
Ion cyclotron resonance Proteomics Toxin Epigenetics Mass spectrometry Proteoform Transformation Top-down Fourier transform Inorganic arsenic Histone variants 
ModelsBabaev2024 - CYP2C9 variants
Modified model of losartan metabolism (Karatza and Karalis, 2020) incorporating different allelic variants of CYP2C9
2024-12-19 | MODEL2412180002 | BioModels
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