Associated Papers
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
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
The Asp298Asn polymorphism of melanocortin-4 receptor (MC4R) in pigs: evidence for its potential effects on MC4R constitutive activity and cell surface expression.
Zhang J et al.
Animal Genetics, 2020
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 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
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 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
Identification of tetrapeptides from a mixture based positional scanning library that can restore nM full agonist function of the L106P, I69T, I102S, A219V, C271Y, and C271R human melanocortin-4 polymorphic receptors (hMC4Rs).
Haslach EM et al.
Journal of Medicinal Chemistry, 2014
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
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
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
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
Discovery of a ligand that compensates for decreased endogenous agonist potency of melanocortin-4 receptor polymorphisms identified in obese humans.
Haskell-Luevano C et al.
Advances in Experimental Medicine and Biology, 2009
Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.
Tao YX
Pharmacology & Therapeutics, 2008
Engineering the melanocortin-4 receptor to control constitutive and ligand-mediated G(S) signaling in vivo.
Srinivasan S et al.
Plos One, 2007
Peptide and small molecules rescue the functional activity and agonist potency of dysfunctional human melanocortin-4 receptor polymorphisms.
Xiang Z et al.
Biochemistry, 2007
Homozygous null mutation of the melanocortin-4 receptor and severe early-onset obesity.
Dubern B et al.
The Journal of Pediatrics, 2007
[Melanocortin-4 receptor gene mutations associated with obesity].
Kobayashi H
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist.
Xiang Z et al.
Biochemistry, 2006
Obesity-associated mutations in the human melanocortin-4 receptor gene.
MacKenzie RG
Peptides, 2006
Gene polymorphisms and their effects in the melanocortin system.
Carroll L et al.
Peptides, 2005
Functional analyses of melanocortin-4 receptor mutations identified from patients with binge eating disorder and nonobese or obese subjects.
Tao YX et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Molecular mechanisms of the neural melanocortin receptor dysfunction in severe early onset obesity.
Tao YX
Molecular and Cellular Endocrinology, 2005
Functional characterization of melanocortin-4 receptor mutations associated with childhood obesity.
Tao YX et al.
Endocrinology, 2003
Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations.
Lubrano-Berthelier C et al.
Human Molecular Genetics, 2003
Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children.
Dubern B et al.
The Journal of Pediatrics, 2001
[Genetic variations in energy balance regulation].
Pankov IuA
Biomeditsinskaia Khimiia, 0
Descriptive analysis of MC4R gene variants associated with obesity listed on ClinVar.
Bayhaghi G et al.
Science Progress, 0