Varaico: Literature-Extracted Genetic Variants

Gene:LEPR
Variant:p.W646C
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LEPR

NM_002303.6:p.W646C

Associated Papers

Pathogenic variants in the fibronectin type III domain of leptin receptor: Molecular dynamics simulation and structural analysis.

Kato T et al.

Journal of Molecular Graphics & Modelling, 2025

Real-life experience on efficacy and safety of setmelanotide treatment in prepubertal children.

Kahveci A et al.

European Journal of Endocrinology, 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

38956946 (PubMed )
Supplement: supplement_1.pdf

High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptor.

Saeed S et al.

Cell Reports. Medicine, 2023

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

Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.

Shah BP et al.

Expert Review of Endocrinology & Metabolism, 2023

36864747 (PubMed )
Supplement: supplement_1.zip › supple_PPL › PPL_Variant_Supp2-LEPR.xlsx › Sheet1

Leptin Receptor Compound Heterozygosity in Humans and Animal Models.

Berger C et al.

International Journal of Molecular Sciences, 2021

Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics.

Kleinendorst L et al.

European Journal of Endocrinology, 2020

Methylphenidate in children with monogenic obesity due to LEPR or MC4R deficiency improves feeling of satiety and reduces BMI-SDS-A case series.

Brandt S et al.

Pediatric Obesity, 2020

Functional and Phenotypic Characteristics of Human Leptin Receptor Mutations.

Nunziata A et al.

Journal of the Endocrine Society, 2019

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

Homozygosity for two missense mutations in the leptin receptor gene (P316:W646C) in a Turkmenian girl with severe early-onset obesity.

Andiran N et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011

[Recombinant DNA in the study of diabetes mellitus].

Pankov IuA

Molekuliarnaia Biologiia, 0

[Monogenic human obesity: role of the leptin-melanocortin system in the regulation of food intake and body weight in humans].

González-Jiménez E et al.

Anales Del Sistema Sanitario De Navarra, 0

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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."