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
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
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
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 2019
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
Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity.
Lotta LA et al.
Cell, 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
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
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
Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.
Collet TH et al.
Molecular Metabolism, 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
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
A novel MC4R mutation associated with childhood-onset obesity: A case report.
Doulla M et al.
Paediatrics & Child Health, 2014
Obesity-associated melanocortin-4 receptor mutations are associated with changes in the brain response to food cues.
van der Klaauw AA et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
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
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
Pleiotropic functions of the transmembrane domain 6 of human melanocortin-4 receptor.
Huang H et al.
Journal of Molecular Endocrinology, 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
Do common variants separate between obese melanocortin-4 receptor gene mutation carriers and non-carriers? The impact of cryptic relatedness.
Mühlhaus J et al.
Hormone Research in Paediatrics, 2012
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
The melanocortin-4 receptor: physiology, pharmacology, and pathophysiology.
Tao YX
Endocrine Reviews, 2010
Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.
Tan K et al.
Endocrinology, 2009
Discovery of a ligand that compensates for decreased endogenous agonist potency of melanocortin-4 receptor polymorphisms identified in obese humans.
Haskell-Luevano C et al.
Advances in Experimental Medicine and Biology, 2009
Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.
Stutzmann F et al.
Diabetes, 2008
Peptide and small molecules rescue the functional activity and agonist potency of dysfunctional human melanocortin-4 receptor polymorphisms.
Xiang Z et al.
Biochemistry, 2007
A novel mutation Thr162Arg of the melanocortin 4 receptor gene in a Spanish children and adolescent population.
Ochoa MC et al.
Clinical Endocrinology, 2007
[Melanocortin-4 receptor gene mutations associated with obesity].
Kobayashi H
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006
Cart overexpression is the only identifiable cause of high bone mass in melanocortin 4 receptor deficiency.
Ahn JD et al.
Endocrinology, 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
Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany.
Hinney A et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Large quantitative effect of melanocortin-4 receptor gene mutations on body mass index.
Dempfle A et al.
Journal of Medical Genetics, 2004
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
Binge-eating episodes are not characteristic of carriers of melanocortin-4 receptor gene mutations.
Hebebrand J et al.
Molecular Psychiatry, 2004