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
SHU9119 and MBP10 are biased ligands at the human melanocortin-4 receptor.
Dai HC et al.
Biochemical Pharmacology, 2024
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
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
Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics.
Aykut A et al.
European Journal of Pediatrics, 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
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 2019
Obesity-associated mutant melanocortin-4 receptors with normal Gαs coupling frequently exhibit other discoverable pharmacological and biochemical defects.
Gillyard T et al.
Journal of Neuroendocrinology, 2019
Analysis of SNPs of MC4R, GNB3 and FTO gene polymorphism in obese Saudi subjects.
Moselhy SS et al.
African Health Sciences, 2017
Effect of interactions of polymorphisms in the Melanocortin-4 receptor gene with dietary factors on the risk of obesity and Type 2 diabetes: a systematic review.
Koochakpoor G et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2016
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
A novel MC4R mutation associated with childhood-onset obesity: A case report.
Doulla M et al.
Paediatrics & Child Health, 2014
A small molecule agonist THIQ as a novel pharmacoperone for intracellularly retained melanocortin-4 receptor mutants.
Huang H et al.
International Journal of Biological Sciences, 2014
Ipsen 5i is a Novel Potent Pharmacoperone for Intracellularly Retained Melanocortin-4 Receptor Mutants.
Tao YX et al.
Frontiers in Endocrinology, 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
Loss-of-function mutations in MC4R are very rare in the Greek severely obese adult population.
Rouskas K et al.
Obesity (silver Spring, Md.), 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
The melanocortin-4 receptor: physiology, pharmacology, and pathophysiology.
Tao YX
Endocrine Reviews, 2010
Melanocortin-4 receptor gene polymorphisms in obese patients.
Yurtcu E et al.
Biochemical Genetics, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Lifestyle intervention in obese children with variations in the melanocortin 4 receptor gene.
Reinehr T et al.
Obesity (silver Spring, Md.), 2009
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
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
Functional characterization of melanocortin-4 receptor mutations associated with childhood obesity.
Tao YX et al.
Endocrinology, 2003
Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity.
Miraglia Del Giudice E et al.
International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity, 2002
A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity.
Mergen M et al.
The Journal of Clinical Endocrinology and Metabolism, 2001