Associated Papers
Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk.
Zorn S et al.
Nature Medicine, 2025
Impact of Bariatric Surgery on the Expression of Fertility-Related Genes in Obese Women: A Systematic Review of LEP, LEPR, MC4R, FTO, and POMC.
Voros C et al.
International Journal of Molecular Sciences, 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
Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort.
Wade KH et al.
Nature Medicine, 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
Novel Mutations in Obesity-related Genes in Turkish Children with Non-syndromic Early Onset Severe Obesity: A Multicentre Study
Akıncı A et al.
Journal of Clinical Research in Pediatric Endocrinology, 2019
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 2019
Signal Transduction and Pathogenic Modifications at the Melanocortin-4 Receptor: A Structural Perspective.
Heyder N et al.
Frontiers in Endocrinology, 2019
Pharmacological chaperones for the misfolded melanocortin-4 receptor associated with human obesity.
Huang H et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017
Divergent effects of central melanocortin signalling on fat and sucrose preference in humans.
van der Klaauw AA et al.
Nature Communications, 2016
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Long-term weight-loss in gastric bypass patients carrying melanocortin 4 receptor variants.
Moore BS et al.
Plos One, 2014
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Functions of transmembrane domain 3 of human melanocortin-4 receptor.
Mo XL et al.
Journal of Molecular Endocrinology, 2012
Pharmacological chaperones increase the cell-surface expression of intracellularly retained mutants of the melanocortin 4 receptor with unique rescuing efficacy profiles.
Ward NA et al.
Biochemical Society Transactions, 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 neuroendocrine circuitry controlled by POMC, MSH, and AGRP.
Biebermann H et al.
Handbook of Experimental Pharmacology, 2012
The melanocortin-4 receptor: physiology, pharmacology, and pathophysiology.
Tao YX
Endocrine Reviews, 2010
[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
Gene polymorphisms and their effects in the melanocortin system.
Carroll L et al.
Peptides, 2005
Molecular mechanisms of the neural melanocortin receptor dysfunction in severe early onset obesity.
Tao YX
Molecular and Cellular Endocrinology, 2005
Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female.
Donohoue PA et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
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
Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity.
Nijenhuis WA et al.
The Journal of Biological Chemistry, 2003
Molecular determinants of melanocortin 4 receptor ligand binding and MC4/MC3 receptor selectivity.
Nickolls SA et al.
The Journal of Pharmacology and Experimental Therapeutics, 2003
Molecular determinants of human melanocortin-4 receptor responsible for antagonist SHU9119 selective activity.
Yang Y et al.
The Journal of Biological Chemistry, 2002
Haploinsufficiency of the melanocortin-4 receptor: part of a thrifty genotype?
Cone RD
The Journal of Clinical Investigation, 2000
Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity.
Vaisse C et al.
The Journal of Clinical Investigation, 2000
Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.
Farooqi IS et al.
The Journal of Clinical Investigation, 2000
Identification and functional analysis of novel human melanocortin-4 receptor variants.
Gu W et al.
Diabetes, 1999