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
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
Tirzepatide leads to weight reduction in people with obesity due to MC4R deficiency.
Bhatnagar P et al.
Nature Medicine, 2025
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
Hou H et al.
Npj Genomic Medicine, 2025
Association of genetic variation in the leptin-melanocortin system with drive for thinness in patients with eating disorders: A pilot study.
González-Rodríguez L et al.
Gene, 2025
Rare variants in the melanocortin 4 receptor gene (MC4R) are associated with abdominal fat and insulin resistance in youth with obesity.
Galuppo B et al.
International Journal of Obesity (2005), 2025
High-resolution deep mutational scanning of the melanocortin-4 receptor enables target characterization for drug discovery.
Howard CJ et al.
Elife, 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 Outcome of Metabolic and Bariatric Surgery in Morbidly Obese Patients with Different Genetic Variants Associated with Obesity: A Systematic Review.
Zafirovska M et al.
Nutrients, 2024
A mammalian tripartite enhancer cluster controls hypothalamic Pomc expression, food intake, and body weight.
Rojo D et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Unexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa.
Rajcsanyi LS et al.
Scientific Reports, 2024
Gene variants and the response to childhood obesity interventions: A systematic review and meta-analysis.
Chen J et al.
Clinical Nutrition (edinburgh, Scotland), 2024
Predisposition of the Common MC4R rs17782313 Female Carriers to Elevated Obesity and Interaction with Eating Habits.
Chermon D et al.
Genes, 2023
A unique melanocortin-4-receptor signaling profile for obesity-associated constitutively active variants.
Botha R et al.
Journal of Molecular Endocrinology, 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
The rs17782313 polymorphism near MC4R gene confers a high risk of obesity and hyperglycemia, while PGC1α rs8192678 polymorphism is weakly correlated with glucometabolic disorder: a systematic review and meta-analysis.
Zhang Y et al.
Frontiers in Endocrinology, 2023
Strategies to identify causal common genetic variants and corresponding effector genes for paediatric obesity.
Littleton SH et al.
Pediatric Obesity, 2022
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 2022
Melanocortin-4 receptor complexity in energy homeostasis,obesity and drug development strategies.
Fatima MT et al.
Diabetes, Obesity & Metabolism, 2022
Diverse effect of MC4R risk alleles on obesity-related traits over a lifetime: Evidence from a well-designed cohort study.
Moazzam-Jazi M et al.
Gene, 2022
Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity.
Akbari P et al.
Science (new York, N.y.), 2021
Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort.
Wade KH et al.
Nature Medicine, 2021
Genetics of Obesity: What We Have Learned Over Decades of Research.
Bouchard C
Obesity (silver Spring, Md.), 2021
Reply to Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R.
Lotta L et al.
Cell, 2021
Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation.
Brouwers B et al.
Cell Reports, 2021
A Systematic Review of Genetic Polymorphisms Associated with Binge Eating Disorder.
Manfredi L et al.
Nutrients, 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
Mouse models for V103I and I251L gain of function variants of the human MC4R display decreased adiposity but are not protected against a hypercaloric diet.
Rojo D et al.
Molecular Metabolism, 2020