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

Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort.

Nature medicine - 1 Jun 2021

Wade Kaitlin H, Lam Brian Y H, Melvin Audrey, Pan Warren, Corbin Laura J, Hughes David A, Rainbow Kara, Chen Jian-Hua, Duckett Katie, Liu Xiaoming, Mokrosiński Jacek, Mörseburg Alexander, Neaves Sam, Williamson Alice, Zhang Chen, Farooqi I Sadaf, Yeo Giles S H, Timpson Nicholas J, O'Rahilly Stephen

Abstract excerpt

Mutations in the melanocortin 4 receptor gene (MC4R) are associated with obesity but little is known about the prevalence and impact of such mutations throughout human growth and development. We examined the MC4R coding sequence in 5,724 participants from the Avon Longitudinal Study of Parents and Children, functionally characterized all nonsynonymous MC4R variants and examined their association with...

Read the complete abstract on PubMed

Topics

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

Share to Body Weight
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Infant, Newborn

Share to Loss of Function Mutation

Share to Obesity

Share to Receptor, Melanocortin, Type 4

Share to United Kingdom

Source

Open in PubMed Open full text

Identifiers

PMID: 34045736
DOI: 10.1038/s41591-021-01349-y
PMCID: PMC7611835

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort.PMID 34045736Read ↗

Prevalence and expressivity of loss of function mutations in the Melanocortin 4 Receptor (<i>MC4R</i>) in a UK birth cohortSemantic proximity Read ↗

Mutations in melanocortin-4 receptor and human obesity.Semantic proximity Read ↗

Melanocortin 4 receptor mutations in obese Czech children: studies of prevalence, phenotype development, weight reduction response, and functional analysis.Semantic proximity Read ↗

Clinical and functional relevance of melanocortin-4 receptor variants in obese German children.Semantic proximity Read ↗

The genetic epidemiology of melanocortin 4 receptor variants.Semantic proximity Read ↗

The role of polygenic susceptibility to obesity among carriers of pathogenic mutations in MC4R in the UK Biobank population.Semantic proximity Read ↗

Melanocortin-4 receptor gene mutations in a Dutch cohort of obese children.Semantic proximity Read ↗

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

Melanocortin 4 receptor mutations become common.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 ↗

Prevalence and phenotypic characterization of MC4R variants in a large pediatric cohort.Semantic proximity Read ↗

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

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