Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.D100Y
Back to variants list

LEP

NM_000230.3:p.D100Y

Associated Papers

IMPROVE 2023: The 2nd International Meeting on Pathway-Related Obesity: Vision & Evidence.

Clément K et al.

Clinical Obesity, 2025

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

Classification of Congenital Leptin Deficiency.

von Schnurbein J et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Novel compound heterozygous mutations in LEP responsible for obesity in a Chinese family.

Li H et al.

Molecular Genetics and Metabolism Reports, 2024

A quantitative pipeline to assess secretion of human leptin coding variants reveals mechanisms underlying leptin deficiencies.

Baird HJM et al.

The Journal of Biological Chemistry, 2024

A National Multicenter Study of Leptin and Leptin Receptor Deficiency and Systematic Review.

Besci Ö et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature.

Mazen IH et al.

Molecular Genetics and Genomics : Mgg, 2023

Rare Antagonistic Leptin Variants and Severe, Early-Onset Obesity.

Funcke JB et al.

The New England Journal of Medicine, 2023

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

Hinney A et al.

Nature Reviews. Endocrinology, 2022

Leptin Signaling in Obesity and Colorectal Cancer.

Socol CT et al.

International Journal of Molecular Sciences, 2022

Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database.

Rajcsanyi LS et al.

Plos One, 2022

A fresh look to the phenotype in mono-allelic likely pathogenic variants of the leptin and the leptin receptor gene.

Koerber-Rosso I et al.

Molecular and Cellular Pediatrics, 2021

Serum IGF1 and linear growth in children with congenital leptin deficiency before and after leptin substitution.

Beghini M et al.

International Journal of Obesity (2005), 2021

When Leptin Is Not There: A Review of What Nonsyndromic Monogenic Obesity Cases Tell Us and the Benefits of Exogenous Leptin.

Salum KCR et al.

Frontiers in Endocrinology, 2021

Early childhood BMI trajectories in monogenic obesity due to leptin, leptin receptor, and melanocortin 4 receptor deficiency.

Kohlsdorf K et al.

International Journal of Obesity (2005), 2018

Severe Early Onset Obesity due to a Novel Missense Mutation in Exon 3 of the Leptin Gene in an Infant from Northwest India

Dayal D et al.

Journal of Clinical Research in Pediatric Endocrinology, 2018

Estimated prevalence of potentially damaging variants in the leptin gene.

Nunziata A et al.

Molecular and Cellular Pediatrics, 2017

Measurement of immunofunctional leptin to detect and monitor patients with functional leptin deficiency.

Wabitsch M et al.

European Journal of Endocrinology, 2017

The 14th Ile residue is essential for Leptin function in regulating energy homeostasis in rat.

Xu S et al.

Scientific Reports, 2016

Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene.

Wabitsch M et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population.

Saeed S et al.

Obesity (silver Spring, Md.), 2015

Biologically inactive leptin and early-onset extreme obesity.

Wabitsch M et al.

The New England Journal of Medicine, 2015

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."