Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Functional Characterization of Obesity-Associated Variants Involving the α and β Isoforms of Human SH2B1

27 Jun 2014

Abstract excerpt

We have previously reported rare variants in sarcoma (Src) homology 2 (SH2) B adaptor protein 1 (SH2B1) in individuals with obesity, insulin resistance, and maladaptive behavior. Here, we identify 4 additional SH2B1 variants by sequencing 500 individuals with severe early-onset obesity. SH2B1 has 4 alternatively spliced isoforms. One variant (T546A) lies within the N-terminal region common to all isoforms. As...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cytokine Signaling Pathways and Interactions
Share to Regulation of Appetite and Obesity
Share to RNA Research and Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 24971614
DOI: 10.1210/en.2014-1264

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional Characterization of Obesity-Associated Variants Involving the α and β Isoforms of Human SH2B1PMID 24971614Read ↗

Human SH2B1 mutations are associated with maladaptive behaviors and obesity.Semantic proximity Read ↗

Mutation screen in the GWAS derived obesity gene SH2B1 including functional analyses of detected variants.Semantic proximity Read ↗

Critical role of the Src homology 2 (SH2) domain of neuronal SH2B1 in the regulation of body weight and glucose homeostasis in mice.Semantic proximity Read ↗

Crucial Role of the SH2B1 PH Domain for the Control of Energy BalanceSemantic proximity Read ↗

Replication of the SH2B1 rs7498665 association with obesity in a Belgian study population.Semantic proximity Read ↗

Genetic and structural variation in the SH2B1 gene in the Belgian population.Semantic proximity Read ↗

The Effect of SH2B1 Variants on Expression of Leptin- and Insulin-Induced Pathways in Murine Hypothalamus.Semantic proximity Read ↗

Neural deletion of Sh2b1 results in brain growth retardation and reactive aggression.Semantic proximity Read ↗

The SH2B gene is associated with serum leptin and body fat in normal female twins.Semantic proximity Read ↗

The SH2B1 obesity locus and abnormal glucose homeostasis: lack of evidence for association from a meta-analysis in individuals of European ancestry.Semantic proximity Read ↗

Screening for coding variants in FTO and SH2B1 genes in Chinese patients with obesity.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.