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
The Outcome of Metabolic and Bariatric Surgery in Morbidly Obese Patients with Different Genetic Variants Associated with Obesity: A Systematic Review.
Zafirovska M et al.
Nutrients, 2024
Mechanisms of Weight Control by Primary Cilia.
Lee CH et al.
Molecules and Cells, 2022
Melanocortin-4 receptor complexity in energy homeostasis,obesity and drug development strategies.
Fatima MT et al.
Diabetes, Obesity & Metabolism, 2022
Neuronal cilia in energy homeostasis.
Brewer KM et al.
Frontiers in Cell and Developmental Biology, 2022
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
Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.
Yang LK et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 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
Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity.
Lotta LA et al.
Cell, 2019
Profound Perturbation of the Metabolome in Obesity Is Associated with Health Risk.
Cirulli ET et al.
Cell Metabolism, 2019
Neuronal Cilia: Another Player in the Melanocortin System.
Varela L et al.
Trends in Molecular Medicine, 2018
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
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
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
Family of melanocortin receptor (MCR) genes in mammals-mutations, polymorphisms and phenotypic effects.
Switonski M et al.
Journal of Applied Genetics, 2013
Weight loss after Roux-en-Y gastric bypass in obese patients heterozygous for MC4R mutations.
Aslan IR et al.
Obesity Surgery, 2011
Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway.
Wangensteen T et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2009
Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.
Calton MA et al.
Human Molecular Genetics, 2009
The human MC4R promoter: characterization and role in obesity.
Lubrano-Berthelier C et al.
Diabetes, 2003