Associated Papers
Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk.
Zorn S et al.
Nature Medicine, 2025
Impact of Bariatric Surgery on the Expression of Fertility-Related Genes in Obese Women: A Systematic Review of LEP, LEPR, MC4R, FTO, and POMC.
Voros C et al.
International Journal of Molecular Sciences, 2025
Genetic etiology and clinical features of non-syndromic pediatric obesity in the Chinese population: a large cohort study.
Hui H et al.
Bmc Pediatrics, 2025
Unraveling the relationship between head circumference and MC4R deficiency from infancy to adulthood: a case-control study.
van der Walle EEPL et al.
Obesity (silver Spring, Md.), 2025
Distribution of Variants and Identification of Novel Variants in Patients with Obesity Using Next-Generation Sequencing in Genes Associated with Obesity: A Single-Center Experience in Turkey.
Anlas O et al.
Molecular Syndromology, 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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 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
Sequencing methods, functional characterization, prevalence, and penetrance of rare coding mutations in panels of monogenic obesity genes from the leptin-melanocortin pathway: A systematic review.
Dosda S et al.
Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024
Rare genetic forms of obesity in childhood and adolescence, a comprehensive review of their molecular mechanisms and diagnostic approach.
Mainieri F et al.
European Journal of Pediatrics, 2023
Screening of non-syndromic early-onset child and adolescent obese patients in terms of LEP, LEPR, MC4R and POMC gene variants by next-generation sequencing.
Nalbantoğlu Ö et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Rare Variant Analysis of Obesity-Associated Genes in Young Adults With Severe Obesity From a Consanguineous Population of Pakistan.
Saeed S et al.
Diabetes, 2022
Reply to Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R.
Lotta L et al.
Cell, 2021
Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation.
Brouwers B et al.
Cell Reports, 2021
Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance.
Hosoe J et al.
Diabetes Research and Clinical Practice, 2020
Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics.
Aykut A et al.
European Journal of Pediatrics, 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
Mutations in MC4R facilitate the angiogenic activity in patients with orbital venous malformation.
Huang XM et al.
Experimental Biology and Medicine (maywood, N.j.), 2020
Novel Mutations in Obesity-related Genes in Turkish Children with Non-syndromic Early Onset Severe Obesity: A Multicentre Study
Akıncı A et al.
Journal of Clinical Research in Pediatric Endocrinology, 2019
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 2019
Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity.
Lotta LA et al.
Cell, 2019
Monogenic Obesity Mutations Lead to Less Weight Loss After Bariatric Surgery: a 6-Year Follow-Up Study.
Li Y et al.
Obesity Surgery, 2019
Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.
Collet TH et al.
Molecular Metabolism, 2017
Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents.
Tunç S et al.
Journal of Clinical Research in Pediatric Endocrinology, 2017
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
[Mutation screening and function prediction of melanocortin-4 receptor gene in obese children].
Song JY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 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
Melanocortin 3 receptor gene and melanocortin 4 receptor gene mutations: the Asian Perspective.
Lee YS
Diabetes/metabolism Research and Reviews, 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
[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
Increased constraints on MC4R during primate and human evolution.
Hughes DA et al.
Human Genetics, 2009
Several mutations in the melanocortin 4 receptor gene are associated with obesity in Chinese children and adolescents.
Wang CL et al.
Journal of Endocrinological Investigation, 2006
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
Investigating genetic variants in early-onset obesity through exome sequencing: A retrospective cohort study.
Liu D et al.
Obesity Research & Clinical Practice, 0