Associated Papers
Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.
Faccioli N et al.
Obesity (silver Spring, Md.), 2026
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
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
Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort.
Wade KH et al.
Nature Medicine, 2021
Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation.
Brouwers B et al.
Cell Reports, 2021
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 Melanocortin System behind the Dysfunctional Eating Behaviors.
Micioni Di Bonaventura E et al.
Nutrients, 2020
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
Profound Perturbation of the Metabolome in Obesity Is Associated with Health Risk.
Cirulli ET et al.
Cell Metabolism, 2019
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
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
The melanocortin-4 receptor: physiology, pharmacology, and pathophysiology.
Tao YX
Endocrine Reviews, 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
[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
Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist.
Xiang Z et al.
Biochemistry, 2006
Obesity-associated mutations in the human melanocortin-4 receptor gene.
MacKenzie RG
Peptides, 2006
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
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
Genomic localization and SNP discovery in the bovine melanocortin receptor 4 gene (MC4R).
Valle E et al.
Animal Genetics, 2004
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.
Farooqi IS et al.
The New England Journal of Medicine, 2003
Binge eating as a major phenotype of melanocortin 4 receptor gene mutations.
Branson R et al.
The New England Journal of Medicine, 2003