Associated Papers
Structural and functional characterization of the Pro64Ser leptin mutant: Implications for congenital leptin deficiency.
Ngo BQ et al.
Biophysical Journal, 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
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
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
Pathogenic mutations in two Chinese patients exhibiting severe early-onset obesity.
Liu Y et al.
Science China. Life Sciences, 2019
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 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
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
Leptin's metabolic and immune functions can be uncoupled at the ligand/receptor interaction level.
Zabeau L et al.
Cellular and Molecular Life Sciences : Cmls, 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
Rapid improvement of hepatic steatosis after initiation of leptin substitution in a leptin-deficient girl.
von Schnurbein J et al.
Hormone Research in Paediatrics, 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
Leptin substitution results in the induction of menstrual cycles in an adolescent with leptin deficiency and hypogonadotropic hypogonadism.
von Schnurbein J et al.
Hormone Research in Paediatrics, 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
A new missense mutation in the leptin gene causes mild obesity and hypogonadism without affecting T cell responsiveness.
Fischer-Posovszky P et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
[Recombinant DNA in the study of diabetes mellitus].
Pankov IuA
Molekuliarnaia Biologiia, 0