Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.H118L
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LEP

NM_000230.3:p.H118L

Associated Papers

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

38956946 (PubMed )
Supplement: supplement_1.pdf

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

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

36121795 (PubMed )
Supplement: pone.0266642.s003.pdf

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

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

Pathogenic mutations in two Chinese patients exhibiting severe early-onset obesity.

Liu Y et al.

Science China. Life Sciences, 2019

Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity.

Yupanqui-Lozno H et al.

Genes, 2019

Monogenic Obesity Mutations Lead to Less Weight Loss After Bariatric Surgery: a 6-Year Follow-Up Study.

Li Y et al.

Obesity Surgery, 2019

Role of Leptin Deficiency, Inefficiency, and Leptin Receptors in Obesity.

Wasim M et al.

Biochemical Genetics, 2016

A novel mutation in leptin gene is associated with severe obesity in Chinese individuals.

Zhao Y et al.

Biomed Research International, 2014

A novel mutation in the leptin gene (W121X) in an Egyptian family.

Mazen I et al.

Molecular Genetics and Metabolism Reports, 2014

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