Article

Identification of p.Met215Ile mutation of the MC4R gene in a Moroccan woman with obesity

2021-09-25

Abstract excerpt

The MC4R is involved in the leptin-melanocortin pathway which mutations can lead to severe forms of obesity. We report one rare mutation p.Met215Ile in a woman with morbid obesity. This mutation leads to changes in protein structure through the loss of hydrophobic interactions and it is predicted to be disease-causing.

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e2debd73-4e62-5ffc-8c54-5d87c577d842
DOI: 10.22541/au.163255015.59479063/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Identification of p.Met215Ile mutation of the MC4R gene in a Moroccan woman with obesityDOI 10.22541/au.163255015.59479063/v1Read

A novel MC4R deletion coexisting with FTO and MC1R gene variants, causes severe early onset obesity.Semantic proximity Read

Functional Characterization of Novel MC4R Variants Identified in Two Unrelated Patients with Morbid Obesity in QatarSemantic proximity Read

Functional Characterization of Novel MC4R Variants Identified in Two Unrelated Patients with Morbid Obesity in Qatar.Semantic proximity Read

Prevalence of mutations in LEP, LEPR, and MC4R genes in individuals with severe obesity.Semantic proximity Read

A frameshift mutation in human MC4R is associated with a dominant form of obesitySemantic proximity Read

Mutations in melanocortin-4 receptor and human obesity.Semantic proximity Read

Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity.Semantic proximity Read

Functional alterations of two novel MC4R mutations found in Argentinian pediatric patients with early onset obesity.Semantic proximity Read

Melanocortin-4 receptor gene mutations in a Dutch cohort of obese children.Semantic proximity Read

A novel mutation Thr162Arg of the melanocortin 4 receptor gene in a Spanish children and adolescent population.Semantic proximity Read

Identification and molecular characterization of missense mutations in orphan GPCR GPR61 occurring in severe obesitySemantic proximity Read

Loss-of-function mutations in MC4R are very rare in the Greek severely obese adult population.Semantic proximity Read