Associated Papers
Bcl11a deficiency in cerebellar Purkinje cells causes ataxia and autistic-like behavior by altering Vav3.
Zhang J et al.
Molecular Psychiatry, 2026
Treatment Approaches for Obesity in Children With Heterozygous MC4R Variants.
Salama M et al.
Clinical Obesity, 2026
A Phenotypic Paradigm for Cerebral Palsy Genetics.
Arterbery AS et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
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
Founder Variants in the Mexican Population: A Systematic Review.
Harari-Arakindji S et al.
Archives of Medical Research, 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
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Peron A et al.
European Journal of Human Genetics : Ejhg, 2025
Genomics of cardiometabolic disease: contributions of Mexican research groups.
Domínguez-Pérez M et al.
Gaceta Medica De Mexico, 2025
Nutritional genomics in the Mexican population. An approach to prevent the development of obesity-associated metabolic diseases.
Aguilar-Salazar A et al.
Gaceta Medica De Mexico, 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
Cardiometabolic Risk Markers in Children With Obesity and Variants in MC4R Pathway-related Genes.
Salama M et al.
Journal of the Endocrine Society, 2024
Genetic architecture and biology of youth-onset type 2 diabetes.
Kwak SH et al.
Nature Metabolism, 2024
Insights from rare variants into the genetic architecture and biology of youth-onset type 2 diabetes.
Kwak SH et al.
Research Square, 2023
Effect of the Melanocortin 4-Receptor Ile269Asn Mutation on Weight Loss Response to Dietary, Phentermine and Bariatric Surgery Interventions.
Salazar-Valencia IG et al.
Genes, 2022
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.
Bowling KM et al.
Genome Medicine, 2022
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 2022
Analysis of rare coding variants in 200,000 exome-sequenced subjects reveals novel genetic risk factors for type 2 diabetes.
Curtis D
Diabetes/metabolism Research and Reviews, 2022
Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes.
Deaton AM et al.
Scientific Reports, 2021
Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity.
Akbari P et al.
Science (new York, N.y.), 2021
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
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
The MC4R p.Ile269Asn mutation confers a high risk for type 2 diabetes in the Mexican population via obesity dependent and independent effects.
Vázquez-Moreno M et al.
Scientific Reports, 2021
Sex/Gender Modifies the Association Between the MC4R p.Ile269Asn Mutation and Type 2 Diabetes in the Mexican Population.
Vázquez-Moreno M et al.
The Journal of Clinical Endocrinology and Metabolism, 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
A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disability.
Beleford DT et al.
European Journal of Medical Genetics, 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
The Melanocortin 4 Receptor p.Ile269Asn Mutation Is Associated with Childhood and Adult Obesity in Mexicans.
Vázquez-Moreno M et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.
Wong KHY et al.
Molecular Genetics & Genomic Medicine, 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
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
Flannick J et al.
Nature, 2019
Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity.
Lotta LA et al.
Cell, 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
Brain-derived neurotrophic factor in human subjects with function-altering melanocortin-4 receptor variants.
Hohenadel MG et al.
International Journal of Obesity (2005), 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