Obesity-Associated GNAS Mutations and the Melanocortin Pathway.

doi:10.1056/NEJMoa2103329

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

Community

Back to search

Article

Obesity-Associated GNAS Mutations and the Melanocortin Pathway.

The New England journal of medicine - 21 Oct 2021

Mendes de Oliveira Edson, Keogh Julia M, Talbot Fleur, Henning Elana, Ahmed Rachel, Perdikari Aliki, Bounds Rebecca, Wasiluk Natalia, Ayinampudi Vikram, Barroso Inês, Mokrosiński Jacek, Jyothish Deepthi, Lim Sharon, Gupta Sanjay, Kershaw Melanie, Matei Cristina, Partha Praveen, Randell Tabitha, McAulay Antoinette, Wilson Louise C, Cheetham Tim, Crowne Elizabeth C, Clayton Peter, Farooqi I Sadaf

Abstract excerpt

BACKGROUND: GNAS encodes the Gαs (stimulatory G-protein alpha subunit) protein, which mediates G protein-coupled receptor (GPCR) signaling. GNAS mutations cause developmental delay, short stature, and skeletal abnormalities in a syndrome called Albright's hereditary osteodystrophy. Because of imprinting, mutations on the maternal allele also cause obesity and hormone resistance (pseudohypoparathyroidism)....

Read the complete abstract on PubMed

Topics

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

Share to Pediatric Obesity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Body Height

Share to Chromogranins

Share to Exome Sequencing

Share to GTP-Binding Protein alpha Subunits, Gs

Share to Mutation, Missense

Share to Receptor, Melanocortin, Type 4

Share to Receptors, Thyrotropin

Source

Open in PubMed

Identifiers

PMID: 34614324
DOI: 10.1056/NEJMoa2103329

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Obesity-Associated GNAS Mutations and the Melanocortin Pathway.PMID 34614324Read ↗

The role of genetic and epigenetic GNAS alterations in the development of early-onset obesity.Semantic proximity Read ↗

A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.Semantic proximity Read ↗

GNAS Spectrum of Disorders.Semantic proximity Read ↗

Mechanisms of disease: Mutations of G proteins and G-protein-coupled receptors in endocrine diseases.Semantic proximity Read ↗

Clinical and Functional Characterization of Melanocortin 4 Receptor genetic variants in African American and/or Hispanic children with severe early onset obesity.Semantic proximity Read ↗

Gsα deficiency in the dorsomedial hypothalamus underlies obesity associated with Gsα mutations.Semantic proximity Read ↗

Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.Semantic proximity Read ↗

Effects of deficiency of the G protein Gsα on energy and glucose homeostasis.Semantic proximity Read ↗

Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity.Semantic proximity Read ↗

Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity.Semantic proximity Read ↗

Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.Semantic proximity Read ↗

Gs(alpha) mutations and imprinting defects in human disease.Semantic proximity Read ↗

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