Associated Papers
Treatment Approaches for Obesity in Children With Heterozygous MC4R Variants.
Salama M et al.
Clinical Obesity, 2026
Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk.
Zorn S et al.
Nature Medicine, 2025
Impact of Bariatric Surgery on the Expression of Fertility-Related Genes in Obese Women: A Systematic Review of LEP, LEPR, MC4R, FTO, and POMC.
Voros C et al.
International Journal of Molecular Sciences, 2025
MRAP2 modifies the signaling and oligomerization state of the melanocortin-4 receptor.
Sohail I et al.
Nature Communications, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Unraveling the relationship between head circumference and MC4R deficiency from infancy to adulthood: a case-control study.
van der Walle EEPL et al.
Obesity (silver Spring, Md.), 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
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
Restoring function to inactivating G protein-coupled receptor variants in the hypothalamic-pituitary-gonadal axis1.
Radomsky T et al.
Journal of Neuroendocrinology, 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
High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptor.
Saeed S et al.
Cell Reports. Medicine, 2023
Functional Characterization of MC4R Variants in Chinese Morbid Obese Patients and Weight Loss after Bariatric Surgery.
Gong Y et al.
Advanced Biology, 2023
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
Targeting trafficking as a therapeutic avenue for misfolded GPCRs leading to endocrine diseases.
Ulloa-Aguirre A et al.
Frontiers in Endocrinology, 2022
Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation.
Brouwers B et al.
Cell Reports, 2021
Pharmacological chaperone action in humanized mouse models of MC4R-linked obesity.
René P et al.
Jci Insight, 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
Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics.
Aykut A et al.
European Journal of Pediatrics, 2020
Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan.
Saeed S et al.
Diabetes, 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
Novel Mutations in Obesity-related Genes in Turkish Children with Non-syndromic Early Onset Severe Obesity: A Multicentre Study
Akıncı A et al.
Journal of Clinical Research in Pediatric Endocrinology, 2019
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 2019
Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity.
Lotta LA et al.
Cell, 2019
Gain-of-function variants in the melanocortin 4 receptor gene confer susceptibility to binge eating disorder in subjects with obesity: a systematic review and meta-analysis.
Qasim A et al.
Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2019
Signal Transduction and Pathogenic Modifications at the Melanocortin-4 Receptor: A Structural Perspective.
Heyder N et al.
Frontiers in Endocrinology, 2019
Genetic obesity: next-generation sequencing results of 1230 patients with obesity.
Kleinendorst L et al.
Journal 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
Next-generation sequencing of the monogenic obesity genes LEP, LEPR, MC4R, PCSK1 and POMC in a Norwegian cohort of patients with morbid obesity and normal weight controls.
Nordang GBN et al.
Molecular Genetics and Metabolism, 2017
Prevalence and phenotypic characterization of MC4R variants in a large pediatric cohort.
Vollbach H et al.
International Journal of Obesity (2005), 2017
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
Obesity-associated melanocortin-4 receptor mutations are associated with changes in the brain response to food cues.
van der Klaauw AA et al.
The Journal of Clinical Endocrinology and Metabolism, 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