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
Computational analysis of missense variants of human MC4R and childhood obesity.
Douiyeh I et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2023
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
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 2019
Signal Transduction and Pathogenic Modifications at the Melanocortin-4 Receptor: A Structural Perspective.
Heyder N et al.
Frontiers in Endocrinology, 2019
The role of GPCRs in bone diseases and dysfunctions.
Luo J et al.
Bone Research, 2019
Genetics of Obesity in Consanguineous Populations: Toward Precision Medicine and the Discovery of Novel Obesity Genes.
Saeed S et al.
Obesity (silver Spring, Md.), 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
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
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
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
Rescue of melanocortin 4 receptor (MC4R) nonsense mutations by aminoglycoside-mediated read-through.
Brumm H et al.
Obesity (silver Spring, Md.), 2012
The neuroendocrine circuitry controlled by POMC, MSH, and AGRP.
Biebermann H et al.
Handbook of Experimental Pharmacology, 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
In silico mutagenesis: a case study of the melanocortin 4 receptor.
Bromberg Y et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2009
Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.
Tan K et al.
Endocrinology, 2009
Increased constraints on MC4R during primate and human evolution.
Hughes DA et al.
Human Genetics, 2009
[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
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
Functional characterization of melanocortin-4 receptor mutations associated with childhood obesity.
Tao YX et al.
Endocrinology, 2003
Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity.
Hinney A et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity.
Nijenhuis WA et al.
The Journal of Biological Chemistry, 2003
Cell surface expression of the melanocortin-4 receptor is dependent on a C-terminal di-isoleucine sequence at codons 316/317.
VanLeeuwen D et al.
The Journal of Biological Chemistry, 2003
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.
Farooqi IS et al.
The New England Journal of Medicine, 2003
Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms.
Yeo GS et al.
Human Molecular Genetics, 2003
Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations.
Lubrano-Berthelier C et al.
Human Molecular Genetics, 2003
Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity.
Miraglia Del Giudice E et al.
International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity, 2002
A Novel homozygous missense mutation of melanocortin-4 receptor (MC4R) in a Japanese woman with severe obesity.
Kobayashi H et al.
Diabetes, 2002
Haploinsufficiency of the melanocortin-4 receptor: part of a thrifty genotype?
Cone RD
The Journal of Clinical Investigation, 2000
Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.
Farooqi IS et al.
The Journal of Clinical Investigation, 2000
[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