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
Genetics of Common Obesity in Children and Adolescents.
León-Reyes G et al.
Annals of the New York Academy of Sciences, 2025
Characterization of prevalent genetic variants in the Estonian Biobank body-mass index GWAS.
Abner E et al.
Nature Communications, 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
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
Tonic ubiquitination of the central body weight regulator melanocortin receptor 4 (MC4R) promotes its constitutive exit from cilia.
Ojeda-Naharros I et al.
Plos Biology, 2025
Identification and functional analysis of six melanocortin-4-receptor-like (MC4R-like) mutations in goldfish (Carassius auratus).
Wang Y et al.
General and Comparative Endocrinology, 2025
A genome-wide association analysis reveals new pathogenic pathways in gout.
Major TJ et al.
Nature Genetics, 2024
Genetic Variants of Obesity in Malaysia: A Scoping Review.
Hamzah SS et al.
Genes, 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
An integrative framework to prioritize genes in more than 500 loci associated with body mass index.
Hemerich D et al.
American Journal of Human Genetics, 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
A human obesity-associated MC4R mutation with defective Gq/11α signaling leads to hyperphagia in mice.
Metzger PJ et al.
The Journal of Clinical Investigation, 2024
Predisposition of the Common MC4R rs17782313 Female Carriers to Elevated Obesity and Interaction with Eating Habits.
Chermon D et al.
Genes, 2023
Functional Characterization of MC4R Variants in Chinese Morbid Obese Patients and Weight Loss after Bariatric Surgery.
Gong Y et al.
Advanced Biology, 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
The promise of new anti-obesity therapies arising from knowledge of genetic obesity traits.
Hinney A et al.
Nature Reviews. Endocrinology, 2022
Concurrent outcomes from multiple approaches of epistasis analysis for human body mass index associated loci provide insights into obesity biology.
D'Silva S et al.
Scientific Reports, 2022
Melanocortin-4 receptor complexity in energy homeostasis,obesity and drug development strategies.
Fatima MT et al.
Diabetes, Obesity & Metabolism, 2022
Low-frequency Coding Variants Associated With Body Mass Index Affect the Success of Bariatric Surgery.
Antoine D et al.
The Journal of Clinical Endocrinology and 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