Associated Papers
Structural and functional characterization of the Pro64Ser leptin mutant: Implications for congenital leptin deficiency.
Ngo BQ et al.
Biophysical Journal, 2025
Molecular Genetic Architecture of Morbid Obesity in Russian Children.
Minniakhmetov IR et al.
Biomedicines, 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
High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptor.
Saeed S et al.
Cell Reports. Medicine, 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
The impact of leptin and its receptor polymorphisms on type 1 diabetes in a population of northwest Iran.
Azimnasab-Sorkhabi P et al.
Annals of Human Biology, 2022
The genetic elucidation of monogenic obesity in the Arab world: a systematic review.
AbouHashem N et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 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 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
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
Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan.
Saeed S et al.
Diabetes, 2020
Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity.
Yupanqui-Lozno H et al.
Genes, 2019
Prediction and Structural Comparison of Deleterious Coding Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in Human LEP Gene Associated with Obesity.
Bouafi H et al.
Biomed Research International, 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
Identification of genetic basis of obesity and mechanistic link of genes and lipids in Pakistani population.
Shabana et al.
Bioscience Reports, 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
Genetics of Obesity in Consanguineous Populations: Toward Precision Medicine and the Discovery of Novel Obesity Genes.
Saeed S et al.
Obesity (silver Spring, Md.), 2018
Correlation between serum leptin and its gene expression to the anthropometric measures in overweight and obese children.
Eldosouky MK et al.
Cellular and Molecular Biology (noisy-le-grand, France), 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
Role of Leptin Deficiency, Inefficiency, and Leptin Receptors in Obesity.
Wasim M et al.
Biochemical Genetics, 2016
The 14th Ile residue is essential for Leptin function in regulating energy homeostasis in rat.
Xu S et al.
Scientific Reports, 2016
The p. N103K mutation of leptin (LEP) gene and severe early onset obesity in Pakistan.
Shabana et al.
Biological Research, 2016
Mismatch Amplification Mutation Assay Real-Time PCR Analysis of the Leptin Gene G2548A and A19G Polymorphisms and Serum Leptin in Infancy: A Preliminary Investigation.
Savino F et al.
Hormone Research in Paediatrics, 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
Seven novel deleterious LEPR mutations found in early-onset obesity: a ΔExon6-8 shared by subjects from Reunion Island, France, suggests a founder effect.
Huvenne H et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Biologically inactive leptin and early-onset extreme obesity.
Wabitsch M et al.
The New England Journal of Medicine, 2015
Monogenic forms of childhood obesity due to mutations in the leptin gene.
Funcke JB et al.
Molecular and Cellular Pediatrics, 2014
A novel mutation of the leptin gene in an Indian patient.
Thakur S et al.
Clinical Genetics, 2014
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
Homozygous leptin receptor mutation due to uniparental disomy of chromosome 1: response to bariatric surgery.
Le Beyec J et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Leptin and leptin receptor-related monogenic obesity.
Dubern B et al.
Biochimie, 2012
High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families.
Saeed S et al.
Molecular Genetics and Metabolism, 2012
Ten years of leptin replacement therapy.
Paz-Filho G et al.
Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2011
ENU mutagenesis identifies mice with morbid obesity and severe hyperinsulinemia caused by a novel mutation in leptin.
Hong CJ et al.
Plos One, 2010
Congenital leptin deficiency: diagnosis and effects of leptin replacement therapy.
Paz-Filho G et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2010