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

Rare Antagonistic Leptin Variants and Severe, Early-Onset Obesity

14 Jun 2023

Abstract excerpt

Hormone absence or inactivity is common in congenital disease, but hormone antagonism remains controversial. Here, we characterize two novel homozygous leptin variants that yielded antagonistic proteins in two unrelated children with intense hyperphagia, severe obesity, and high circulating levels of leptin. Both variants bind to the leptin receptor but trigger marginal, if any, signaling. In the presence of...

Read the complete abstract on PubMed

Topics

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

Share to Biochemical Analysis and Sensing Techniques
Share to Pancreatic function and diabetes
Share to Regulation of Appetite and Obesity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 37314706
DOI: 10.1056/nejmoa2204041

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rare Antagonistic Leptin Variants and Severe, Early-Onset ObesityPMID 37314706Read ↗

Classification of Congenital Leptin Deficiency.Semantic proximity Read ↗

Congenital leptin deficiency is associated with severe early-onset obesity in humansSemantic proximity Read ↗

Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.Semantic proximity Read ↗

Functional and Phenotypic Characteristics of Human Leptin Receptor MutationsSemantic proximity Read ↗

When Leptin Is Not There: A Review of What Nonsyndromic Monogenic Obesity Cases Tell Us and the Benefits of Exogenous Leptin.Semantic proximity Read ↗

Biologically inactive leptin and early-onset extreme obesity.Semantic proximity Read ↗

Monogenic forms of childhood obesity due to mutations in the leptin geneSemantic proximity Read ↗

Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene.Semantic proximity Read ↗

Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe ObesitySemantic proximity Read ↗

A National Multicenter Study of Leptin and Leptin Receptor Deficiency and Systematic Review.Semantic proximity Read ↗

Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity.Semantic proximity Read ↗

Role of Leptin Deficiency, Inefficiency, and Leptin Receptors in Obesity.Semantic proximity Read ↗

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