Sort   by:  
 Page size 
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
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 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
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
TranscriptomicsTranscriptome sequencing of a large human family identifies the impact of rare non-coding variants
We have combined high-quality genome sequencing and RNA-sequencing data within a 17-individual, three generation family. Using these data, we have contrasted cis-acting expression, allele-specific expression and splicing quantitative trait loci (collectively termed eQTLs) within the family to eQTLs ...
ORGANISM(S): Homo sapiens 
2014-09-01 | E-GEOD-56961 | biostudies-arrayexpress
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
ProteomicsFunctional characterisation of rare variants in genes encoding the MAPK/ERK signalling pathway identified in long-lived Leiden Longevity Study participants
Human longevity, coupled to compression of age-related disease, is heritable. However, few common genetic variants have been linked to longevity, suggesting that rare, family-specific variants may also play a role. We therefore investigated whole-genome sequencing data of long-lived families from th...
ORGANISM(S): Mus musculus (Mouse) 
2026-03-16 | PXD063190 | Pride
Longevity Rare variants Functional characterisation Ageing Genetics Mapk/erk signalling pathway 
TranscriptomicsIdentification of Copy Number Variants in Patients with Hypoplastic Left Heart Syndrome and Other Congenital Heart Defects
Hypoplastic left heart syndrome (HLHS) is a heterogeneous, lethal combination of congenital malformations that result in a heart unable to sustain systemic circulation. The genetic determinants of this disorder are largely unknown. Evidence of copy number variants (CNVs) contributing to the genetic ...
ORGANISM(S): Homo sapiens 
2015-12-10 | E-GEOD-66032 | biostudies-arrayexpress
TranscriptomicsRare and common variants in CARD14, an epidermal regulator of NF-kappaB, in psoriasis
Psoriasis is a common inflammatory disorder of the skin and other organs. We have determined that mutations in CARD14, encoding an NF-kB activator within skin epidermis, account for PSORS2. Here we describe fifteen additional rare, missense variants in CARD14, their distribution in seven psoriasis c...
ORGANISM(S): Homo sapiens 
2012-05-08 | E-GEOD-36381 | biostudies-arrayexpress
TranscriptomicsArray-based resequencing of human mitochondrial disease patient samples to identify rare DNA variants
This is a custom Affymetrix resequencing array for DNA sequencing of the entire coding region and exon-splice sites of 39 human genes (452 exons; 106,337 bases). These nuclear genes encode proteins localized to mitochondria and include known disease genes (i.e. POLG, C10orf2) and new candidate genes...
ORGANISM(S): Homo sapiens 
2011-08-26 | E-MTAB-346 | biostudies-arrayexpress
Sort   by:  
 Page size