Associated Papers
Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk.
Zorn S et al.
Nature Medicine, 2025
Sequencing methods, functional characterization, prevalence, and penetrance of rare coding mutations in panels of monogenic obesity genes from the leptin-melanocortin pathway: A systematic review.
Dosda S et al.
Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024
Evolutionary Identification of the Requirement of the Second Intracellular Loop for the Constitutive Activity of Melanocortin-4 Receptors.
Xu B et al.
Acs Pharmacology & Translational Science, 2024
A unique melanocortin-4-receptor signaling profile for obesity-associated constitutively active variants.
Botha R et al.
Journal of Molecular Endocrinology, 2023
Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.
Namjou B et al.
International Journal of Obesity (2005), 2021
The Asp298Asn polymorphism of melanocortin-4 receptor (MC4R) in pigs: evidence for its potential effects on MC4R constitutive activity and cell surface expression.
Zhang J et al.
Animal Genetics, 2020
The role of polygenic susceptibility to obesity among carriers of pathogenic mutations in MC4R in the UK Biobank population.
Chami N et al.
Plos Medicine, 2020
Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients with Morbid Obesity.
Cooiman MI et al.
Obesity Surgery, 2020
Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity.
De Rosa MC et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Genetic obesity: next-generation sequencing results of 1230 patients with obesity.
Kleinendorst L et al.
Journal of Medical Genetics, 2018
Subcellular localization of MC4R with ADCY3 at neuronal primary cilia underlies a common pathway for genetic predisposition to obesity.
Siljee JE et al.
Nature Genetics, 2018
Allelic variants of the Melanocortin 4 receptor (MC4R) gene in a South African study group.
Logan M et al.
Molecular Genetics & Genomic Medicine, 2016
Melanocortin-4 receptor gene variants are not associated with binge-eating behavior in nonobese patients with eating disorders.
Gamero-Villarroel C et al.
Psychiatric Genetics, 2015
Novel variants in the MC4R and LEPR genes among severely obese children from the Iberian population.
Albuquerque D et al.
Annals of Human Genetics, 2014
Mechanism of N-terminal modulation of activity at the melanocortin-4 receptor GPCR.
Ersoy BA et al.
Nature Chemical Biology, 2012
Melanocortin-4 receptor signaling is required for weight loss after gastric bypass surgery.
Hatoum IJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Pharmacological characterization of 30 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists, synthetic agonists, and the endogenous agouti-related protein antagonist.
Xiang Z et al.
Biochemistry, 2010
[Melanocortin-4 receptor gene mutations associated with obesity].
Kobayashi H
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006
Obesity-associated mutations in the human melanocortin-4 receptor gene.
MacKenzie RG
Peptides, 2006
Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans.
Srinivasan S et al.
The Journal of Clinical Investigation, 2004
The human MC4R promoter: characterization and role in obesity.
Lubrano-Berthelier C et al.
Diabetes, 2003