Associated Papers
Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk.
Zorn S et al.
Nature Medicine, 2025
High-resolution deep mutational scanning of the melanocortin-4 receptor enables target characterization for drug discovery.
Howard CJ et al.
Elife, 2025
Medical semiology of patients with monogenic obesity: A systematic review.
Renard E et al.
Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024
MC4R Variants Modulate α-MSH and Setmelanotide Induced Cellular Signaling at Multiple Levels.
Rodríguez Rondón AV et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.
Namjou B et al.
International Journal of Obesity (2005), 2021
Alanine Scanning Mutagenesis of the DRYxxI Motif and Intracellular Loop 2 of Human Melanocortin-4 Receptor.
Yang LK et al.
International Journal of Molecular Sciences, 2020
The repertoire of family A-peptide GPCRs in archaic hominins.
Mata X et al.
Peptides, 2019
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 2019
Insights into the Allosteric Mechanism of Setmelanotide (RM-493) as a Potent and First-in-Class Melanocortin-4 Receptor (MC4R) Agonist To Treat Rare Genetic Disorders of Obesity through an in Silico Approach.
Falls BA et al.
Acs Chemical Neuroscience, 2019
Gain-of-function variants in the melanocortin 4 receptor gene confer susceptibility to binge eating disorder in subjects with obesity: a systematic review and meta-analysis.
Qasim A et al.
Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2019
Signal Transduction and Pathogenic Modifications at the Melanocortin-4 Receptor: A Structural Perspective.
Heyder N et al.
Frontiers in Endocrinology, 2019
Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.
Collet TH et al.
Molecular Metabolism, 2017
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Defect in MAPK signaling as a cause for monogenic obesity caused by inactivating mutations in the melanocortin-4 receptor gene.
He S et al.
International Journal of Biological Sciences, 2014
A novel missense mutation T101N in the melanocortin-4 receptor gene associated with obesity.
Buchbinder S et al.
Genetics and Molecular Research : Gmr, 2011
Novel pharmacological MC4R agonists can efficiently activate mutated MC4R from obese patient with impaired endogenous agonist response.
Roubert P et al.
The Journal of Endocrinology, 2010
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
Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.
Tao YX
Pharmacology & Therapeutics, 2008
Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.
Stutzmann F et al.
Diabetes, 2008
Mapping the structural requirements in the CB1 cannabinoid receptor transmembrane helix II for signal transduction.
Kapur A et al.
The Journal of Pharmacology and Experimental Therapeutics, 2008
[Melanocortin-4 receptor gene mutations associated with obesity].
Kobayashi H
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating.
Lubrano-Berthelier C et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Obesity-associated mutations in the human melanocortin-4 receptor gene.
MacKenzie RG
Peptides, 2006
Gene polymorphisms and their effects in the melanocortin system.
Carroll L et al.
Peptides, 2005
Functional analyses of melanocortin-4 receptor mutations identified from patients with binge eating disorder and nonobese or obese subjects.
Tao YX et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Molecular mechanisms of the neural melanocortin receptor dysfunction in severe early onset obesity.
Tao YX
Molecular and Cellular Endocrinology, 2005
Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity.
Larsen LH et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Functional characterization of melanocortin-4 receptor mutations associated with childhood obesity.
Tao YX et al.
Endocrinology, 2003
Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity.
Hinney A et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Melanocortin 4 receptor sequence variations are seldom a cause of human obesity: the Swedish Obese Subjects, the HERITAGE Family Study, and a Memphis cohort.
Jacobson P et al.
The Journal of Clinical Endocrinology and Metabolism, 2002