Associated Papers
Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk.
Zorn S et al.
Nature Medicine, 2025
41102563 (PubMed )
Supplement: 41591_2025_3976_MOESM2_ESM.xlsx › Table_S4
High-resolution deep mutational scanning of the melanocortin-4 receptor enables target characterization for drug discovery.
Howard CJ et al.
Elife, 2025
40202051 (PubMed )
Supplement: elife-104725-supp1.xlsx › Supplementary_File_1b
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
38956946 (PubMed )
Supplement: supplement_1.pdf
Melanocortin-4 receptor complexity in energy homeostasis,obesity and drug development strategies.
Fatima MT et al.
Diabetes, Obesity & Metabolism, 2022
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
32952152 (PubMed )
Supplement: 41366_2020_675_MOESM1_ESM.xlsx › Table_S2
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
32692746 (PubMed )
Supplement: pmed.1003196.s006.xlsx › S2_Table
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
Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.
Collet TH et al.
Molecular Metabolism, 2017
29031731 (PubMed )
Supplement: mmc2.xlsx › Table_S2
A novel MC4R mutation associated with childhood-onset obesity: A case report.
Doulla M et al.
Paediatrics & Child Health, 2014
Greater impact of melanocortin-4 receptor deficiency on rates of growth and risk of type 2 diabetes during childhood compared with adulthood in Pima Indians.
Thearle MS et al.
Diabetes, 2012
[Obesity caused by melanocortin-4 receptor mutations].
van den Berg L et al.
Nederlands Tijdschrift Voor Geneeskunde, 2012
Melanocortin-4 receptor gene mutations in a Dutch cohort of obese children.
van den Berg L et al.
Obesity (silver Spring, Md.), 2011
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