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
SHU9119 and MBP10 are biased ligands at the human melanocortin-4 receptor.
Dai HC et al.
Biochemical Pharmacology, 2024
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
MC4R Variants Modulate α-MSH and Setmelanotide Induced Cellular Signaling at Multiple Levels.
Rodríguez Rondón AV et al.
The Journal of Clinical Endocrinology and Metabolism, 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
The Tip of the Iceberg: Genotype of Puerto Rican Pediatric Obesity.
Melendez-Montañez JM et al.
Genes, 2024
A unique melanocortin-4-receptor signaling profile for obesity-associated constitutively active variants.
Botha R et al.
Journal of Molecular Endocrinology, 2023
Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation.
Brouwers B et al.
Cell Reports, 2021
Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.
Yang LK et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 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
Biased signaling in fish melanocortin-4 receptors (MC4Rs): Divergent pharmacology of four ligands on spotted scat (Scatophagus argus) and grass carp (Ctenopharyngodon idella) MC4Rs.
Yang Z et al.
Molecular and Cellular Endocrinology, 2020
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
Heterozygous rare genetic variants in non-syndromic early-onset obesity.
Serra-Juhé C et al.
International Journal of Obesity (2005), 2020
Common activation mechanism of class A GPCRs.
Zhou Q et al.
Elife, 2019
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 2019
Obesity-associated mutant melanocortin-4 receptors with normal Gαs coupling frequently exhibit other discoverable pharmacological and biochemical defects.
Gillyard T et al.
Journal of Neuroendocrinology, 2019
Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity.
Lotta LA et al.
Cell, 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
Melanocortin-4 receptor gene variants are not associated with binge-eating behavior in nonobese patients with eating disorders.
Gamero-Villarroel C et al.
Psychiatric Genetics, 2015
Functional characterization of a new human melanocortin-4 receptor homozygous mutation (N72K) that is associated with early-onset obesity.
Delhanty PJ et al.
Molecular Biology Reports, 2014
A novel MC4R mutation associated with childhood-onset obesity: A case report.
Doulla M et al.
Paediatrics & Child Health, 2014
Novel variants in the MC4R and LEPR genes among severely obese children from the Iberian population.
Albuquerque D et al.
Annals of Human Genetics, 2014
Long-term weight-loss in gastric bypass patients carrying melanocortin 4 receptor variants.
Moore BS et al.
Plos One, 2014
Activation of MAPK by inverse agonists in six naturally occurring constitutively active mutant human melanocortin-4 receptors.
Mo XL et al.
Biochimica Et Biophysica Acta, 2013
The neuroendocrine circuitry controlled by POMC, MSH, and AGRP.
Biebermann H et al.
Handbook of Experimental Pharmacology, 2012
Functional studies on twenty novel naturally occurring melanocortin-4 receptor mutations.
Wang ZQ et al.
Biochimica Et Biophysica Acta, 2011
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