Associated Papers
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
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
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
Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity.
Yupanqui-Lozno H et al.
Genes, 2019
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
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