Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.V110M
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LEP

NM_000230.3:p.V110M

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

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

Targeted gene panel provides advantages over whole-exome sequencing for diagnosing obesity and diabetes mellitus.

Yu H et al.

Journal of Molecular Cell Biology, 2023

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.s001.xlsx › Leptin_gnomAD_v2.1.1_ENSG000001

A Case-Control Study of the Association of Leptin Gene Polymorphisms with Plasma Leptin Levels and Obesity in the Kerala Population.

Manju SK et al.

Journal of Obesity, 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

ENU mutagenesis identifies mice with morbid obesity and severe hyperinsulinemia caused by a novel mutation in leptin.

Hong CJ et al.

Plos One, 2010

No association of LEPR Gln223Arg polymorphism with leptin, obesity or metabolic disturbances in children.

Pyrzak B et al.

European Journal of Medical Research, 2009

Leptin and obesity.

de Luis DA et al.

Minerva Medica, 2009

Understanding mutations and protein stability through tripeptides.

Anishetty S et al.

Febs Letters, 2006

[The genetics of obesity].

Echwald SM et al.

Ugeskrift for Laeger, 2006

Genetics of leptin and obesity: a HuGE review.

Paracchini V et al.

American Journal of Epidemiology, 2005

A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.

Watanabe I et al.

Clinical Pharmacology and Therapeutics, 2003

A polymorphic marker in the leptin gene associated with Japanese morbid obesity.

Ohshiro Y et al.

Journal of Molecular Medicine (berlin, Germany), 2000

Identification of new sequence variants in the leptin gene.

Karvonen MK et al.

The Journal of Clinical Endocrinology and Metabolism, 1998

Identification of two novel missense mutations in the human OB gene.

Echwald SM et al.

International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity, 1997

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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."