Associated Papers
Monogenic obesity due to MC4R deficiency: lessons from a multigenerational case.
Giannopoulou EZ et al.
Molecular and Cellular Pediatrics, 2026
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
Identification and functional analysis of six melanocortin-4-receptor-like (MC4R-like) mutations in goldfish (Carassius auratus).
Wang Y et al.
General and Comparative 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
Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.
Namjou B et al.
International Journal of Obesity (2005), 2021
Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.
Kleinendorst L et al.
Plos One, 2020
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
Genetic obesity: next-generation sequencing results of 1230 patients with obesity.
Kleinendorst L et al.
Journal of Medical Genetics, 2018
Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.
Collet TH et al.
Molecular Metabolism, 2017
The prevalence of melanocortin-4 receptor gene mutations in Slovak obese children and adolescents.
Polák E et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
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
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