Associated Papers
Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk.
Zorn S et al.
Nature Medicine, 2025
Unraveling the relationship between head circumference and MC4R deficiency from infancy to adulthood: a case-control study.
van der Walle EEPL et al.
Obesity (silver Spring, Md.), 2025
High-resolution deep mutational scanning of the melanocortin-4 receptor enables target characterization for drug discovery.
Howard CJ et al.
Elife, 2025
Monogenic etiologies in a cohort of early onset obesity: a real-world experience from Belgium.
Harvengt J et al.
Frontiers in Endocrinology, 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
Sequencing methods, functional characterization, prevalence, and penetrance of rare coding mutations in panels of monogenic obesity genes from the leptin-melanocortin pathway: A systematic review.
Dosda S et al.
Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.
Verberne EA et al.
American Journal of Medical Genetics. Part A, 2022
Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity.
Lotta LA et al.
Cell, 2019
Genetic obesity: next-generation sequencing results of 1230 patients with obesity.
Kleinendorst L et al.
Journal of Medical 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
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
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 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
Descriptive analysis of MC4R gene variants associated with obesity listed on ClinVar.
Bayhaghi G et al.
Science Progress, 0