Associated Papers
Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk.
Zorn S et al.
Nature Medicine, 2025
41102563 (PubMed )
Supplement: 41591_2025_3976_MOESM2_ESM.xlsx › Table_S4
High-resolution deep mutational scanning of the melanocortin-4 receptor enables target characterization for drug discovery.
Howard CJ et al.
Elife, 2025
40202051 (PubMed )
Supplement: elife-104725-supp1.xlsx › Supplementary_File_1b
Evolutionary Identification of the Requirement of the Second Intracellular Loop for the Constitutive Activity of Melanocortin-4 Receptors.
Xu B et al.
Acs Pharmacology & Translational Science, 2024
Heterozygous Genetic Variants in Autosomal Recessive Genes of the Leptin-Melanocortin Signalling Pathway Are Associated With the Development of Childhood Obesity.
Šket R et al.
Frontiers in Endocrinology, 2022
35574020 (PubMed )
Supplement: DataSheet_1.pdf
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 2019
31700171 (PubMed )
Supplement: EMS84473-supplement-Supplementary_Tables.pdf
Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity.
De Rosa MC et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.
Collet TH et al.
Molecular Metabolism, 2017
29031731 (PubMed )
Supplement: mmc2.xlsx › Table_S2
The prevalence of melanocortin-4 receptor gene mutations in Slovak obese children and adolescents.
Polák E et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016
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
The melanocortin-4 receptor: physiology, pharmacology, and pathophysiology.
Tao YX
Endocrine Reviews, 2010
Functional characterization and pharmacological rescue of melanocortin-4 receptor mutations identified from obese patients.
Fan ZC et al.
Journal of Cellular and Molecular Medicine, 2009
Increased constraints on MC4R during primate and human evolution.
Hughes DA et al.
Human Genetics, 2009
Melanocortin 4 receptor mutations in obese Czech children: studies of prevalence, phenotype development, weight reduction response, and functional analysis.
Hainerová I et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany.
Hinney A et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
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