Article

Exome sequencing reveals aggregates of rare variants in glycosyltransferase and other genes influencing immunoglobulin G and transferrin glycosylation

2022-12-27

Abstract excerpt

It is often difficult to be certain which genes underlie the effects seen in association studies. However, variants that disrupt the protein, such as predicted loss of function (pLoF) and missense variants, provide a shortcut to identify genes with a clear biological link to the phenotype of interest. Glycosylation is one of the most common post-translationalmodifications of proteins, and an important biomarker of...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 98284ab7-fe5f-52f2-8dc9-55019de471d0
DOI: 10.1101/2022.12.26.22283911

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Exome sequencing reveals aggregates of rare variants in glycosyltransferase and other genes influencing immunoglobulin G and transferrin glycosylationDOI 10.1101/2022.12.26.22283911Read

Defining the genetic control of human blood plasma N-glycome using genome-wide association studySemantic proximity Read

The genetics and epidemiology of N- and O-immunoglobulin A glycomicsSemantic proximity Read

Replication of 10 novel loci involved in human plasma protein N-glycosylation using MALDI-MS and UHPLC-FD dataSemantic proximity Read

The genetics and epidemiology of<i>N-</i>and<i>O-</i>IgA glycomicsSemantic proximity Read

Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associated with variation within the human plasma N-glycome of 3533 European adults.Semantic proximity Read

Mutations in Glycosyltransferases and Glycosidases: Implications for Associated Diseases.Semantic proximity Read

Genome-Wide Association Study on Immunoglobulin G Glycosylation PatternsSemantic proximity Read

Plasma glycoproteomics delivers high-specificity disease biomarkers by detecting site-specific glycosylation abnormalitiesSemantic proximity Read

Proteome-wide analysis of single-nucleotide variations in the N-glycosylation sequon of human genes.Semantic proximity Read

Solving glycosylation disorders: fundamental approaches reveal complicated pathways.Semantic proximity Read

A genome-wide association study in 10,000 individuals links plasma N-glycome to liver disease and anti-inflammatory proteinsSemantic proximity Read