Associated Papers
Exploring Autosomal Dominant Non-Syndromic Monogenic Obesity: From Genes to Therapy.
Luppino G et al.
Current Issues in Molecular Biology, 2026
Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.
Faccioli N et al.
Obesity (silver Spring, Md.), 2026
Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk.
Zorn S et al.
Nature Medicine, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.
Künzel R et al.
International Journal of Obesity (2005), 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
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
Molecular Genetic Architecture of Morbid Obesity in Russian Children.
Minniakhmetov IR et al.
Biomedicines, 2025
Diverse Obesity Trajectories in a Family Including Identical Twins with a Pathogenic <italic>MC4R</italic> Variant.
Lim JJX et al.
Obesity Facts, 2025
Variant reclassification over time decreases the level of diagnostic uncertainty in monogenic obesity: Experience from two centres.
Morandi A et al.
Pediatric Obesity, 2024
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
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
Melanocortin-4 receptor complexity in energy homeostasis,obesity and drug development strategies.
Fatima MT et al.
Diabetes, Obesity & Metabolism, 2022
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort.
Wade KH et al.
Nature Medicine, 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
Heterozygous rare genetic variants in non-syndromic early-onset obesity.
Serra-Juhé C et al.
International Journal of Obesity (2005), 2020
Differential Signaling Profiles of MC4R Mutations with Three Different Ligands.
Paisdzior S et al.
International Journal of Molecular Sciences, 2020
Methylphenidate in children with monogenic obesity due to LEPR or MC4R deficiency improves feeling of satiety and reduces BMI-SDS-A case series.
Brandt S et al.
Pediatric Obesity, 2020
Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.
Kleinendorst L et al.
Plos One, 2020
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 2019
Insights into the Allosteric Mechanism of Setmelanotide (RM-493) as a Potent and First-in-Class Melanocortin-4 Receptor (MC4R) Agonist To Treat Rare Genetic Disorders of Obesity through an in Silico Approach.
Falls BA et al.
Acs Chemical Neuroscience, 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
Early childhood BMI trajectories in monogenic obesity due to leptin, leptin receptor, and melanocortin 4 receptor deficiency.
Kohlsdorf K et al.
International Journal of Obesity (2005), 2018
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Turcot V et al.
Nature 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