Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.L250Q
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MC4R

NM_005912.3:p.L250Q

Associated Papers

Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk.

Zorn S et al.

Nature Medicine, 2025

41102563 (PubMed )
Supplement: 41591_2025_3976_MOESM2_ESM.xlsx › Table_S1

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

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

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

MC4R Variants Modulate α-MSH and Setmelanotide Induced Cellular Signaling at Multiple Levels.

Rodríguez Rondón AV et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

A unique melanocortin-4-receptor signaling profile for obesity-associated constitutively active variants.

Botha R et al.

Journal of Molecular Endocrinology, 2023

Melanocortin-4 receptor complexity in energy homeostasis,obesity and drug development strategies.

Fatima MT et al.

Diabetes, Obesity & Metabolism, 2022

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.

Goodrich JK et al.

Nature Communications, 2021

34108472 (PubMed )
Supplement: 41467_2021_23556_MOESM3_ESM.xlsx › Supp_Data_2

Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.

Namjou B et al.

International Journal of Obesity (2005), 2021

32952152 (PubMed )
Supplement: 41366_2020_675_MOESM1_ESM.xlsx › Table_S2

Biased signaling in fish melanocortin-4 receptors (MC4Rs): Divergent pharmacology of four ligands on spotted scat (Scatophagus argus) and grass carp (Ctenopharyngodon idella) MC4Rs.

Yang Z et al.

Molecular and Cellular Endocrinology, 2020

Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.

Baron M et al.

Nature Medicine, 2019

31700171 (PubMed )
Supplement: EMS84473-supplement-Supplementary_Tables.pdf

Signal Transduction and Pathogenic Modifications at the Melanocortin-4 Receptor: A Structural Perspective.

Heyder N et al.

Frontiers in Endocrinology, 2019

31417496 (PubMed )
Supplement: Data_Sheet_1.PDF

Subcellular localization of MC4R with ADCY3 at neuronal primary cilia underlies a common pathway for genetic predisposition to obesity.

Siljee JE et al.

Nature Genetics, 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

Searching for the relationship between the parameters of metabolic syndrome and the rs17782313 (T>C) polymorphism of the MC4R gene in postmenopausal women.

Brodowski J et al.

Clinical Interventions in Aging, 2017

How genetic errors in GPCRs affect their function: Possible therapeutic strategies.

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

A novel MC4R mutation associated with childhood-onset obesity: A case report.

Doulla M et al.

Paediatrics & Child Health, 2014

Long-term weight-loss in gastric bypass patients carrying melanocortin 4 receptor variants.

Moore BS et al.

Plos One, 2014

Activation of MAPK by inverse agonists in six naturally occurring constitutively active mutant human melanocortin-4 receptors.

Mo XL et al.

Biochimica Et Biophysica Acta, 2013

Pleiotropic functions of the transmembrane domain 6 of human melanocortin-4 receptor.

Huang H et al.

Journal of Molecular Endocrinology, 2012

Functional studies on twenty novel naturally occurring melanocortin-4 receptor mutations.

Wang ZQ et al.

Biochimica Et Biophysica Acta, 2011

The melanocortin-4 receptor: physiology, pharmacology, and pathophysiology.

Tao YX

Endocrine Reviews, 2010

Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.

Tan K et al.

Endocrinology, 2009

Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.

Tao YX

Pharmacology & Therapeutics, 2008

Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.

Stutzmann F et al.

Diabetes, 2008

Peptide and small molecules rescue the functional activity and agonist potency of dysfunctional human melanocortin-4 receptor polymorphisms.

Xiang Z et al.

Biochemistry, 2007

[Melanocortin-4 receptor gene mutations associated with obesity].

Kobayashi H

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006

Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist.

Xiang Z et al.

Biochemistry, 2006

Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating.

Lubrano-Berthelier C et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

Molecular mechanism of the constitutive activation of the L250Q human melanocortin-4 receptor polymorphism.

Proneth B et al.

Chemical Biology & Drug Design, 2006

Screening for melanocortin-4 receptor mutations in a cohort of Belgian morbidly obese adults and children.

Beckers S et al.

International Journal of Obesity (2005), 2006

Obesity-associated mutations in the human melanocortin-4 receptor gene.

MacKenzie RG

Peptides, 2006

Gene polymorphisms and their effects in the melanocortin system.

Carroll L et al.

Peptides, 2005

Functional analyses of melanocortin-4 receptor mutations identified from patients with binge eating disorder and nonobese or obese subjects.

Tao YX et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

Molecular mechanisms of the neural melanocortin receptor dysfunction in severe early onset obesity.

Tao YX

Molecular and Cellular Endocrinology, 2005

Neuropeptide gene polymorphisms and human behavioural disorders.

Inui A

Nature Reviews. Drug Discovery, 2003

Functional characterization of melanocortin-4 receptor mutations associated with childhood obesity.

Tao YX et al.

Endocrinology, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."