Associated Papers
Exploring Autosomal Dominant Non-Syndromic Monogenic Obesity: From Genes to Therapy.
Luppino G et al.
Current Issues in Molecular Biology, 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
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
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
A Critical Functional Missense Mutation (T117M) in Sheep MC4R Gene Significantly Leads to Gain-of-Function.
Zhao Z et al.
Animals : an Open Access Journal From Mdpi, 2024
Unexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa.
Rajcsanyi LS et al.
Scientific Reports, 2024
Lipocalin 2 - mutation screen and serum levels in patients with anorexia nervosa or obesity and in lean individuals.
Zheng Y et al.
Frontiers in Endocrinology, 2023
A Gut-Intrinsic Melanocortin Signaling Complex Augments L-Cell Secretion in Humans.
Sun EW et al.
Gastroenterology, 2021
Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort.
Wade KH et al.
Nature Medicine, 2021
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
Obesity treatment effect in Danish children and adolescents carrying Melanocortin-4 Receptor mutations.
Trier C et al.
International Journal of Obesity (2005), 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
The Melanocortin System behind the Dysfunctional Eating Behaviors.
Micioni Di Bonaventura E et al.
Nutrients, 2020
Adults with pathogenic MC4R mutations have increased final height and thereby increased bone mass.
Iepsen EW et al.
Journal of Bone and Mineral Metabolism, 2020
Rare Variants in Genes Linked to Appetite Control and Hypothalamic Development in Early-Onset Severe Obesity.
Loid P et al.
Frontiers in Endocrinology, 2020
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
The role of GPCRs in bone diseases and dysfunctions.
Luo J et al.
Bone Research, 2019
Relevance of polymorphisms in MC4R and BDNF in short normal stature.
Herrfurth N et al.
Bmc Pediatrics, 2018
Patients with Obesity Caused by Melanocortin-4 Receptor Mutations Can Be Treated with a Glucagon-like Peptide-1 Receptor Agonist.
Iepsen EW et al.
Cell Metabolism, 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
Identification of NCAN as a candidate gene for developmental dyslexia.
Einarsdottir E et al.
Scientific Reports, 2017
Prevalence and phenotypic characterization of MC4R variants in a large pediatric cohort.
Vollbach H et al.
International Journal of Obesity (2005), 2017
Prevalence of mutations in LEP, LEPR, and MC4R genes in individuals with severe obesity.
Paolini B et al.
Genetics and Molecular Research : Gmr, 2016
Eating Behavior, Low-Frequency Functional Mutations in the Melanocortin-4 Receptor (MC4R) Gene, and Outcomes of Bariatric Operations: A 6-Year Prospective Study.
Bonnefond A et al.
Diabetes Care, 2016
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Melanocortin-4 receptor gene mutations in obese Slovak children.
Stanikova D et al.
Physiological Research, 2015
A probabilistic model to predict clinical phenotypic traits from genome sequencing.
Chen YC et al.
Plos Computational Biology, 2014
The role of common and rare MC4R variants and FTO polymorphisms in extreme form of obesity.
Rovite V et al.
Molecular Biology Reports, 2014
Long-term weight-loss in gastric bypass patients carrying melanocortin 4 receptor variants.
Moore BS et al.
Plos One, 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
Loss-of-function mutations in MC4R are very rare in the Greek severely obese adult population.
Rouskas K et al.
Obesity (silver Spring, Md.), 2012
Do common variants separate between obese melanocortin-4 receptor gene mutation carriers and non-carriers? The impact of cryptic relatedness.
Mühlhaus J et al.
Hormone Research in Paediatrics, 2012
Missense mutations and polymorphisms of the MC4R gene in Polish obese children and adolescents in relation to the relative body mass index.
Nowacka-Woszuk J et al.
Journal of Applied Genetics, 2011
Investigation of a genome wide association signal for obesity: synthetic association and haplotype analyses at the melanocortin 4 receptor gene locus.
Scherag A et al.
Plos One, 2010