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
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
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
A Gut-Intrinsic Melanocortin Signaling Complex Augments L-Cell Secretion in Humans.
Sun EW et al.
Gastroenterology, 2021
Obesity treatment effect in Danish children and adolescents carrying Melanocortin-4 Receptor mutations.
Trier C et al.
International Journal of Obesity (2005), 2021
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
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
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 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
Patients with Obesity Caused by Melanocortin-4 Receptor Mutations Can Be Treated with a Glucagon-like Peptide-1 Receptor Agonist.
Iepsen EW et al.
Cell Metabolism, 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
Prevalence and phenotypic characterization of MC4R variants in a large pediatric cohort.
Vollbach H et al.
International Journal of Obesity (2005), 2017
Relationships between FTO rs9939609, MC4R rs17782313, and PPARγ rs1801282 polymorphisms and the occurrence of selected metabolic and hormonal disorders in middle-aged and elderly men - a preliminary study.
Rotter I et al.
Clinical Interventions in Aging, 2016
Age of obesity onset in MC4R mutation carriers.
Stanikova D et al.
Endocrine Regulations, 2015
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
The role of common and rare MC4R variants and FTO polymorphisms in extreme form of obesity.
Rovite V et al.
Molecular Biology Reports, 2014
Mutation analysis of WNT10B in obese children, adolescents and adults.
Van Camp JK et al.
Endocrine, 2013
Treatment options for children with monogenic forms of obesity.
Hainerová IA et al.
World Review of Nutrition and Dietetics, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
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
Hypogonadotropic hypogonadism in a homozygous MC4R mutation carrier and the effect of sibutramine treatment on body weight and obesity-related health risks.
Hainerová IA et al.
Obesity Facts, 2011
Investigation of a genome wide association signal for obesity: synthetic association and haplotype analyses at the melanocortin 4 receptor gene locus.
Scherag A et al.
Plos One, 2010
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
Pharmacological characterization of 30 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists, synthetic agonists, and the endogenous agouti-related protein antagonist.
Xiang Z et al.
Biochemistry, 2010
Pertussis toxin-sensitive signaling of melanocortin-4 receptors in hypothalamic GT1-7 cells defines agouti-related protein as a biased agonist.
Büch TR et al.
The Journal of Biological Chemistry, 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
Gene polymorphisms and their effects in the melanocortin system.
Carroll L et al.
Peptides, 2005
Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity.
Larsen LH et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Large quantitative effect of melanocortin-4 receptor gene mutations on body mass index.
Dempfle A et al.
Journal of Medical Genetics, 2004
Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity.
Hinney A et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Binge eating as a phenotype of melanocortin 4 receptor gene mutations.
Gotoda T
The New England Journal of Medicine, 2003
Binge eating as a phenotype of melanocortin 4 receptor gene mutations.
Herpertz S et al.
The New England Journal of Medicine, 2003
Binge eating as a phenotype of melanocortin 4 receptor gene mutations.
Farooqi IS et al.
The New England Journal of Medicine, 2003
[Prevalence of melanocortin 4 receptor (MC4R) mutations and polymorphismsin consecutively ascertained obese children and adolescents from a pediatric health care utilization population].
Zakel UA et al.
Klinische Padiatrie, 0
Descriptive analysis of MC4R gene variants associated with obesity listed on ClinVar.
Bayhaghi G et al.
Science Progress, 0