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ProteomicsNanoparticle Enrichment Mass-Spectrometry Proteomics Identifies Protein Altering Variants for Precise pQTL Mapping
Proteogenomics studies generate hypotheses on protein function and provide genetic evidence for drug target prioritization. Most previous work has been conducted using affinity-based proteomics approaches. These technological face challenges, such as uncertainty regarding target identity, non-specif...
ORGANISM(S): Homo sapiens (Human) 
2023-12-19 | PXD042852 | Pride
Protein altering variants Proteomics Protein quantitative trait loci Mass spectrometry Genome-wide association studies Proteograph™ workflow 
GenomicsDeleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
PRJNA895326 | ENA
GenomicsDeleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype [RNA-seq]
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype [RNA-seq]
PRJNA1080482 | ENA
UnknownHidden protein-altering variants influence diverse human phenotypes.
Not available
S-EPMC10274781 | biostudies-literature
UnknownExome-wide analysis implicates rare protein-altering variants in human handedness.
Not available
S-EPMC10987538 | biostudies-literature
UnknownAssociation of protein function-altering variants with cardiometabolic traits: the strong heart study.
Not available
S-EPMC9167281 | biostudies-literature
UnknownRare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.
Not available
S-EPMC7199928 | biostudies-literature
UnknownProtein-altering variants at copy number-variable regions influence diverse human phenotypes.
Not available
S-EPMC11018521 | biostudies-literature
UnknownRare Protein-Altering Telomere-related Gene Variants in Patients with Chronic Hypersensitivity Pneumonitis.
Not available
S-EPMC6888660 | biostudies-literature
GenomicsDeleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
Neurodevelopmental disorders (NDDs) result from highly penetrant variation in hundreds of different genes, some of which have not yet been identified. Using the MatchMaker Exchange, we assembled a cohort of 27 individuals with rare, protein-altering variation in the transcriptional coregulator gene ...
ORGANISM(S): Homo sapiens 
2022-10-31 | GSE216752 | GEO
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