Article

Functional Characterization of Novel MC4R Variants Identified in Two Unrelated Patients with Morbid Obesity in Qatar

2023-09-20

Abstract excerpt

The leptin-melanocortin pathway is pivotal in appetite and energy homeostasis. Pathogenic variants in genes involved in this pathway lead to severe early-onset monogenic obesity (MO). The MC4R gene plays a central role in leptin-melanocortin signaling, and variants predominantly heterozygous in this gene are the most common cause of MO. We identified two novel heterozygous variants c,253A>G p.Ser85Gly and c.802...

Topics

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

Identifiers and source

Literature Corpus work: 094c24e1-3a57-5e8e-9a94-4d3708572c45
DOI: 10.20944/preprints202309.1314.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Functional Characterization of Novel MC4R Variants Identified in Two Unrelated Patients with Morbid Obesity in QatarDOI 10.20944/preprints202309.1314.v1Read

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

Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.Semantic proximity Read

A Novel Loss of Function Melanocortin-4-Receptor Mutation (MC4R-F313Sfs*29) in Morbid Obesity.Semantic proximity Read

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

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

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

Molecular Analysis and Conformational Dynamics of Human MC4R Disease-Causing Mutations.Semantic proximity Read

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

Melanocortin-4 receptor in energy homeostasis and obesity pathogenesis.Semantic proximity Read

Understanding the Genetics of Early-Onset Obesity in a Cohort of Children From Qatar.Semantic proximity Read

Functional studies on twenty novel naturally occurring melanocortin-4 receptor mutations.Semantic proximity Read

Molecular genetics of human obesity-associated MC4R mutations.Semantic proximity Read