Associated Papers
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
Towards a genetic obesity risk score in a single-center study of children and adolescents with obesity.
Partenope C et al.
Scientific Reports, 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
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
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
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Oetjens MT et al.
Nature Communications, 2019
Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity.
Lotta LA et al.
Cell, 2019
Genetic variants help define the role of the MC4R C-terminus in signaling and cell surface stability.
Moore BS et al.
Scientific Reports, 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
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
A novel MC4R mutation associated with childhood-onset obesity: A case report.
Doulla M et al.
Paediatrics & Child Health, 2014
Defect in MAPK signaling as a cause for monogenic obesity caused by inactivating mutations in the melanocortin-4 receptor gene.
He S et al.
International Journal of Biological Sciences, 2014
Rescue of melanocortin 4 receptor (MC4R) nonsense mutations by aminoglycoside-mediated read-through.
Brumm H et al.
Obesity (silver Spring, Md.), 2012
Do common variants separate between obese melanocortin-4 receptor gene mutation carriers and non-carriers? The impact of cryptic relatedness.
Mühlhaus J et al.
Hormone Research in Paediatrics, 2012
Functional studies on twenty novel naturally occurring melanocortin-4 receptor mutations.
Wang ZQ et al.
Biochimica Et Biophysica Acta, 2011
Missense mutations and polymorphisms of the MC4R gene in Polish obese children and adolescents in relation to the relative body mass index.
Nowacka-Woszuk J et al.
Journal of Applied Genetics, 2011
Weight loss after Roux-en-Y gastric bypass in obese patients heterozygous for MC4R mutations.
Aslan IR et al.
Obesity Surgery, 2011
Identification and functional characterization of novel mutations in the melanocortin-4 receptor.
Beckers S et al.
Obesity Facts, 2010
The melanocortin-4 receptor: physiology, pharmacology, and pathophysiology.
Tao YX
Endocrine Reviews, 2010
Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.
Calton MA et al.
Human Molecular Genetics, 2009
Prevalence of pathogenetic MC4R mutations in Italian children with early onset obesity, tall stature and familial history of obesity.
Santoro N et al.
Bmc Medical Genetics, 2009
Lifestyle intervention in obese children with variations in the melanocortin 4 receptor gene.
Reinehr T et al.
Obesity (silver Spring, Md.), 2009
Definable somatic disorders in overweight children and adolescents.
Reinehr T et al.
The Journal of Pediatrics, 2007