Associated Papers
Treatment Approaches for Obesity in Children With Heterozygous MC4R Variants.
Salama M et al.
Clinical Obesity, 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
Deciphering deleterious missense variants in the MC4R gene in the pathogenesis of obesity.
El Fessikh M et al.
Endocrinologia, Diabetes Y Nutricion, 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
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
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Oetjens MT et al.
Nature Communications, 2019
Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood.
Khera AV et al.
Cell, 2019
Signal Transduction and Pathogenic Modifications at the Melanocortin-4 Receptor: A Structural Perspective.
Heyder N et al.
Frontiers in Endocrinology, 2019
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
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
Hendricks AE et al.
Scientific Reports, 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
A novel MC4R mutation associated with childhood-onset obesity: A case report.
Doulla M et al.
Paediatrics & Child Health, 2014
Rescue of defective MC4R cell-surface expression and signaling by a novel pharmacoperone Ipsen 17.
Wang XH et al.
Journal of Molecular Endocrinology, 2014
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Rescue of melanocortin 4 receptor (MC4R) nonsense mutations by aminoglycoside-mediated read-through.
Brumm H et al.
Obesity (silver Spring, Md.), 2012
Pharmacological chaperones restore function to MC4R mutants responsible for severe early-onset obesity.
René P et al.
The Journal of Pharmacology and Experimental Therapeutics, 2010
The melanocortin-4 receptor: physiology, pharmacology, and pathophysiology.
Tao YX
Endocrine Reviews, 2010
Pharmacological characterization of 30 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists, synthetic agonists, and the endogenous agouti-related protein antagonist.
Xiang Z et al.
Biochemistry, 2010
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
Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.
Tan K et al.
Endocrinology, 2009
Medical sequencing at the extremes of human body mass.
Ahituv N et al.
American Journal of Human Genetics, 2007
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.
Farooqi IS et al.
The New England Journal of Medicine, 2003
Descriptive analysis of MC4R gene variants associated with obesity listed on ClinVar.
Bayhaghi G et al.
Science Progress, 0