Associated Papers
Treatment Approaches for Obesity in Children With Heterozygous MC4R Variants.
Salama M et al.
Clinical Obesity, 2026
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
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 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
High-resolution deep mutational scanning of the melanocortin-4 receptor enables target characterization for drug discovery.
Howard CJ et al.
Elife, 2025
Deciphering deleterious missense variants in the MC4R gene in the pathogenesis of obesity.
El Fessikh M et al.
Endocrinologia, Diabetes Y Nutricion, 2025
SHU9119 and MBP10 are biased ligands at the human melanocortin-4 receptor.
Dai HC et al.
Biochemical Pharmacology, 2024
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
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Case report: Nerve fiber regeneration in children with melanocortin 4 receptor gene mutation related obesity treated with semaglutide.
Gad H et al.
Frontiers in Endocrinology, 2024
Understanding the Genetics of Early-Onset Obesity in a Cohort of Children From Qatar.
Mohammed I et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation.
Brouwers B et al.
Cell Reports, 2021
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
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
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 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
Genetic investigation of patients with tall stature.
Vasco de Albuquerque Albuquerque E et al.
European Journal of Endocrinology, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 2019
Obesity-associated mutant melanocortin-4 receptors with normal Gαs coupling frequently exhibit other discoverable pharmacological and biochemical defects.
Gillyard T et al.
Journal of Neuroendocrinology, 2019
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
Profound Perturbation of the Metabolome in Obesity Is Associated with Health Risk.
Cirulli ET et al.
Cell Metabolism, 2019
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
Allelic variants of the Melanocortin 4 receptor (MC4R) gene in a South African study group.
Logan M et al.
Molecular Genetics & Genomic Medicine, 2016
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
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
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
[Obesity caused by melanocortin-4 receptor mutations].
van den Berg L et al.
Nederlands Tijdschrift Voor Geneeskunde, 2012
Melanocortin-4 receptor gene mutations in a Dutch cohort of obese children.
van den Berg L et al.
Obesity (silver Spring, Md.), 2011
The melanocortin-4 receptor: physiology, pharmacology, and pathophysiology.
Tao YX
Endocrine Reviews, 2010
Melanocortin-4 receptor gene polymorphisms in obese patients.
Yurtcu E et al.
Biochemical Genetics, 2009
Increased constraints on MC4R during primate and human evolution.
Hughes DA et al.
Human Genetics, 2009
Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.
Stutzmann F et al.
Diabetes, 2008
Homozygous null mutation of the melanocortin-4 receptor and severe early-onset obesity.
Dubern B et al.
The Journal of Pediatrics, 2007