Associated Papers
Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk.
Zorn S et al.
Nature Medicine, 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
Missense variants in FRS3 affect body mass index in populations of diverse ancestries.
Jonsdottir AB et al.
Nature Communications, 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
MC4R Variants Modulate α-MSH and Setmelanotide Induced Cellular Signaling at Multiple Levels.
Rodríguez Rondón AV et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Metabolic Syndrome: An Overview on Its Genetic Associations and Gene-Diet Interactions.
Prone-Olazabal D et al.
Metabolic Syndrome and Related Disorders, 2023
Functional Characterization of MC4R Variants in Chinese Morbid Obese Patients and Weight Loss after Bariatric Surgery.
Gong Y et al.
Advanced Biology, 2023
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Evaluation of Pharmacological Rescue of Melanocortin-4 Receptor Nonsense Mutations by Aminoglycoside.
Höpfner F et al.
Life (basel, Switzerland), 2022
Effects of Heterozygous Variants in the Leptin-Melanocortin Pathway on Roux-en-Y Gastric Bypass Outcomes: a 15-Year Case-Control Study.
Campos A et al.
Obesity Surgery, 2022
Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with delayed gastric emptying.
Seelig E et al.
Clinical Endocrinology, 2022
A Gut-Intrinsic Melanocortin Signaling Complex Augments L-Cell Secretion in Humans.
Sun EW et al.
Gastroenterology, 2021
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 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
Weight and Glycemic Control Outcomes of Bariatric Surgery and Pharmacotherapy in Patients With Melanocortin-4 Receptor Deficiency.
Fojas EGF et al.
Frontiers in Endocrinology, 2021
The central melanocortin system and human obesity.
Yang Y et al.
Journal of Molecular Cell Biology, 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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 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
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
Obesity genetics and cardiometabolic health: Potential for risk prediction.
Sanghera DK et al.
Diabetes, Obesity & Metabolism, 2019
Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood.
Khera AV et al.
Cell, 2019
Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity.
Lotta LA et al.
Cell, 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
Genetic obesity: next-generation sequencing results of 1230 patients with obesity.
Kleinendorst L et al.
Journal of Medical Genetics, 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