Associated Papers
Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.
Faccioli N et al.
Obesity (silver Spring, Md.), 2026
Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.
Künzel R 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
40202051 (PubMed )
Supplement: elife-104725-supp1.xlsx › Supplementary_File_1b
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
39225089 (PubMed )
Supplement: jci-134-178573-s021.xlsx › Supp_Table_2
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
Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.
Namjou B et al.
International Journal of Obesity (2005), 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
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
Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.
Collet TH et al.
Molecular Metabolism, 2017
29031731 (PubMed )
Supplement: mmc1.pdf
Prevalence and phenotypic characterization of MC4R variants in a large pediatric cohort.
Vollbach H et al.
International Journal of Obesity (2005), 2017
Descriptive analysis of MC4R gene variants associated with obesity listed on ClinVar.
Bayhaghi G et al.
Science Progress, 0
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