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

The human MC4R promoter: characterization and role in obesity.

Diabetes - 1 Dec 2003

Lubrano-Berthelier Cecile, Cavazos Martha, Le Stunff Catherine, Haas Kurt, Shapiro Astrid, Zhang Sumei, Bougneres Pierre, Vaisse Christian

Abstract excerpt

Heterozygous mutations in the coding sequence of the serpentine melanocortin 4 receptor (MC4R) are the most frequent genetic cause of severe human obesity. Since haploinsufficiency has been proposed as a causal mechanism of obesity associated with these mutations, reduction in gene transcription...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Child
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Obesity

Share to Promoter Regions, Genetic

Share to Receptor, Melanocortin, Type 4

Share to Transcription, Genetic

Share to Transcription Initiation Site

Source

Identifiers

PMID: 14633862
DOI: 10.2337/diabetes.52.12.2996

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14633862-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The human MC4R promoter: characterization and role in obesity.PMID 14633862Read ↗

Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: replication and functional characterization of non-coding regions.Semantic proximity Read ↗

Functional characterization of variants in MC4R gene promoter region found in obese children.Semantic proximity Read ↗

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

Melanocortin-4 receptor in energy homeostasis and obesity pathogenesis.Semantic proximity Read ↗

Molecular genetics of human obesity-associated MC4R mutations.Semantic proximity Read ↗

Identification and functional analysis of novel human melanocortin-4 receptor variants.Semantic proximity Read ↗

Melanocortin 4 receptor gene variation is associated with severe obesity in Pima Indians.Semantic proximity Read ↗

Association of melanin-concentrating hormone receptor 1 5' polymorphism with early-onset extreme obesity.Semantic proximity Read ↗

Common genetic variation in and near the melanocortin 4 receptor gene (MC4R) is associated with body mass index in American Indian adults and children.Semantic proximity Read ↗

Melanocortin 4 receptor sequence variations are seldom a cause of human obesity: the Swedish Obese Subjects, the HERITAGE Family Study, and a Memphis cohort.Semantic proximity Read ↗

Novel melanocortin 4 receptor gene mutations in severely obese children.Semantic proximity Read ↗

Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female.Semantic proximity Read ↗

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