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
Deciphering deleterious missense variants in the MC4R gene in the pathogenesis of obesity.
El Fessikh M et al.
Endocrinologia, Diabetes Y Nutricion, 2025
Semaglutide, a Long-Acting GLP-1 Analogue, for the Management of Early-Onset Obesity due to MC4R Defect: A Case Report.
Gokul PR et al.
Hormone Research in Paediatrics, 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
Case report: Nerve fiber regeneration in children with melanocortin 4 receptor gene mutation related obesity treated with semaglutide.
Gad H et al.
Frontiers in Endocrinology, 2024
Understanding the Genetics of Early-Onset Obesity in a Cohort of Children From Qatar.
Mohammed I et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Liraglutide Treatment in a Morbidly Obese Adolescent with a MC4R Gene Variant: Side Effects Reduce Success
Çamtosun E et al.
Journal of Clinical Research in Pediatric Endocrinology, 2023
The genetic elucidation of monogenic obesity in the Arab world: a systematic review.
AbouHashem N et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022
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
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
Functional studies on twenty novel naturally occurring melanocortin-4 receptor mutations.
Wang ZQ et al.
Biochimica Et Biophysica Acta, 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
Descriptive analysis of MC4R gene variants associated with obesity listed on ClinVar.
Bayhaghi G et al.
Science Progress, 0