Article

Predicted loss of function alleles in Bassoon (BSN) are associated with obesity

2023-02-23

Abstract excerpt

Bassoon ( BSN ) is a component of a hetero-dimeric presynaptic cytomatrix protein that orchestrates neurotransmitter release with Piccolo ( PCLO ) from glutamatergic neurons throughout the brain. Heterozygous missense variants in BSN have previously been associated with neurodegenerative disorders in humans. We performed an exome-wide association analysis of ultra-rare variants in about 140,000 unrelated individua...

Topics

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

Identifiers and source

Literature Corpus work: b4c14702-d138-5897-8937-bf9b9f6ad8fc
DOI: 10.1101/2023.02.19.23285978

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Predicted loss of function alleles in Bassoon (BSN) are associated with obesityDOI 10.1101/2023.02.19.23285978Read

Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesitySemantic proximity Read

Variants in<i>BSN</i>, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic rangeSemantic proximity Read

Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease.Semantic proximity Read

Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range.Semantic proximity Read

Protein-truncating variants in<i>BSN</i>are associated with severe adult-onset obesity, type 2 diabetes and fatty liver diseaseSemantic proximity Read

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.Semantic proximity Read

Heterozygous rare genetic variants in non-syndromic early-onset obesitySemantic proximity Read

Sequencing methods, functional characterization, prevalence, and penetrance of rare coding mutations in panels of monogenic obesity genes from the leptin-melanocortin pathway: A systematic review.Semantic proximity Read

Variants in BSN gene associated with epilepsy with favourable outcome.Semantic proximity Read

Whole Exome Sequencing Revealed Paternal Inheritance of Obesity-related Genetic Variants in a Family with an Exclusively Breastfed InfantSemantic proximity Read

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease.Semantic proximity Read

Exome-Wide Sequencing Study Identified Genetic Variants Associated With Sarcopenic Obesity.Semantic proximity Read