Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.E61*
Back to variants list

MC4R

NM_005912.3:p.E61*

Associated Papers

Unraveling the relationship between head circumference and MC4R deficiency from infancy to adulthood: a case-control study.

van der Walle EEPL et al.

Obesity (silver Spring, Md.), 2025

Monogenic etiologies in a cohort of early onset obesity: a real-world experience from Belgium.

Harvengt J et al.

Frontiers in Endocrinology, 2025

Sequencing methods, functional characterization, prevalence, and penetrance of rare coding mutations in panels of monogenic obesity genes from the leptin-melanocortin pathway: A systematic review.

Dosda S et al.

Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024

38779716 (PubMed )
Supplement: supplement_1.pdf

Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.

Li S et al.

Biomolecules, 2023

37371567 (PubMed )
Supplement: biomolecules-13-00988-s001.zip › biomolecules-2391899-supplementary.xlsx › Sheet1

Evaluation of Pharmacological Rescue of Melanocortin-4 Receptor Nonsense Mutations by Aminoglycoside.

Höpfner F et al.

Life (basel, Switzerland), 2022

Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients with Morbid Obesity.

Cooiman MI et al.

Obesity Surgery, 2020

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

Rescue of melanocortin 4 receptor (MC4R) nonsense mutations by aminoglycoside-mediated read-through.

Brumm H et al.

Obesity (silver Spring, Md.), 2012

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

Biebermann H et al.

Handbook of Experimental Pharmacology, 2012

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."