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
Management of Obesity-Related Genetic Disorders.
Esbati R et al.
Endocrinology and Metabolism Clinics of North America, 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
Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with delayed gastric emptying.
Seelig E et al.
Clinical Endocrinology, 2022
Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort.
Wade KH et al.
Nature Medicine, 2021
Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R.
Weedon MN et al.
Cell, 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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 2019
The role of GPCRs in bone diseases and dysfunctions.
Luo J et al.
Bone Research, 2019
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Thompson ML et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 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
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
Rescue of defective MC4R cell-surface expression and signaling by a novel pharmacoperone Ipsen 17.
Wang XH et al.
Journal of Molecular Endocrinology, 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
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
Polymorphism Val103Ile of the melanocortin-4 receptor gene in the Serbian population.
Stokić E et al.
Molecular Biology Reports, 2010
Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.
Tan K et al.
Endocrinology, 2009
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
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
[Melanocortin-4 receptor gene mutations associated with obesity].
Kobayashi H
Nihon Rinsho. Japanese Journal of Clinical Medicine, 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
The severely obese patient--a genetic work-up.
Farooqi IS
Nature Clinical Practice. Endocrinology & Metabolism, 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
Molecular mechanisms of the neural melanocortin receptor dysfunction in severe early onset obesity.
Tao YX
Molecular and Cellular Endocrinology, 2005
Characterization of cell lines stably expressing human normal or mutated EGFP-tagged MC4R.
Blondet A et al.
Journal of Biochemistry, 2004