Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.C277*
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MC4R

NM_005912.3:p.C277*

Associated Papers

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

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

38956946 (PubMed )
Supplement: supplement_1.pdf

Targeted gene panel provides advantages over whole-exome sequencing for diagnosing obesity and diabetes mellitus.

Yu H et al.

Journal of Molecular Cell Biology, 2023

Functional Characterization of MC4R Variants in Chinese Morbid Obese Patients and Weight Loss after Bariatric Surgery.

Gong Y et al.

Advanced Biology, 2023

[Clinical and genetic analysis of a child with early-onset severe obesity].

Wang P et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023

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

Namjou B et al.

International Journal of Obesity (2005), 2021

Pathogenic mutations in two Chinese patients exhibiting severe early-onset obesity.

Liu Y et al.

Science China. Life Sciences, 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

29031731 (PubMed )
Supplement: mmc2.xlsx › Table_S2

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

Screening for melanocortin 4 receptor mutations in Chinese extremely obese individuals.

Yang JJ et al.

Biomedical and Environmental Sciences : Bes, 2013

Melanocortin 3 receptor gene and melanocortin 4 receptor gene mutations: the Asian Perspective.

Lee YS

Diabetes/metabolism Research and Reviews, 2012

The neuroendocrine circuitry controlled by POMC, MSH, and AGRP.

Biebermann H et al.

Handbook of Experimental Pharmacology, 2012

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

Tao YX

Endocrine Reviews, 2010

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

Descriptive analysis of MC4R gene variants associated with obesity listed on ClinVar.

Bayhaghi G et al.

Science Progress, 0

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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."