Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.H158R
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MC4R

NM_005912.3:p.H158R

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_S4

MRAP2 modifies the signaling and oligomerization state of the melanocortin-4 receptor.

Sohail I et al.

Nature Communications, 2025

High-resolution deep mutational scanning of the melanocortin-4 receptor enables target characterization for drug discovery.

Howard CJ et al.

Elife, 2025

Identification and functional analysis of six melanocortin-4-receptor-like (MC4R-like) mutations in goldfish (Carassius auratus).

Wang Y et al.

General and Comparative Endocrinology, 2025

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 Critical Functional Missense Mutation (T117M) in Sheep MC4R Gene Significantly Leads to Gain-of-Function.

Zhao Z et al.

Animals : an Open Access Journal From Mdpi, 2024

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

Botha R et al.

Journal of Molecular Endocrinology, 2023

The promise of new anti-obesity therapies arising from knowledge of genetic obesity traits.

Hinney A et al.

Nature Reviews. Endocrinology, 2022

A Setmelanotide-like Effect at MC4R Is Achieved by MC4R Dimer Separation.

Reininghaus N et al.

Biomolecules, 2022

Structures of active melanocortin-4 receptor-Gs-protein complexes with NDP-α-MSH and setmelanotide.

Heyder NA et al.

Cell Research, 2021

Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort.

Wade KH et al.

Nature Medicine, 2021

Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.

Yang LK et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 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

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

Alanine Scanning Mutagenesis of the DRYxxI Motif and Intracellular Loop 2 of Human Melanocortin-4 Receptor.

Yang LK et al.

International Journal of Molecular Sciences, 2020

Differential Signaling Profiles of MC4R Mutations with Three Different Ligands.

Paisdzior S et al.

International Journal of Molecular Sciences, 2020

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

Heyder N et al.

Frontiers in Endocrinology, 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

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

Inhibition of melanocortin-4 receptor dimerization by substitutions in intracellular loop 2.

Piechowski CL et al.

Journal of Molecular Endocrinology, 2013

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

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.

Calton MA et al.

Human Molecular Genetics, 2009

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

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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."