Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.P48S
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MC4R

NM_005912.3:p.P48S

Associated Papers

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

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

32692746 (PubMed )
Supplement: pmed.1003196.s006.xlsx › S2_Table

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

Effect of interactions of polymorphisms in the Melanocortin-4 receptor gene with dietary factors on the risk of obesity and Type 2 diabetes: a systematic review.

Koochakpoor G et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2016

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

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

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

Polymorphisms in the bovine ghrelin precursor (GHRL) and Syndecan-1 (SDC1) genes that are associated with growth traits in cattle.

Sun J et al.

Molecular Biology Reports, 2011

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

Tao YX

Endocrine Reviews, 2010

Pharmacological characterization of 30 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists, synthetic agonists, and the endogenous agouti-related protein antagonist.

Xiang Z et al.

Biochemistry, 2010

In silico mutagenesis: a case study of the melanocortin 4 receptor.

Bromberg Y et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2009

Lifestyle intervention in obese children with variations in the melanocortin 4 receptor gene.

Reinehr T et al.

Obesity (silver Spring, Md.), 2009

Definable somatic disorders in overweight children and adolescents.

Reinehr T et al.

The Journal of Pediatrics, 2007

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

Kobayashi H

Nihon Rinsho. Japanese Journal of Clinical Medicine, 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

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

Tao YX

Molecular and Cellular Endocrinology, 2005

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

Tao YX et al.

Endocrinology, 2003

Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity.

Miraglia Del Giudice E et al.

International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity, 2002

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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."