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
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
Targeting PCSK9 to tackle cardiovascular disease.
Hummelgaard S et al.
Pharmacology & Therapeutics, 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
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
Shiga N et al.
Human Genome Variation, 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
Implication of Heterozygous Variants in Genes of the Leptin-Melanocortin Pathway in Severe Obesity.
Courbage S et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Genetic polymorphisms associated with obesity in the Arab world: a systematic review.
Younes S et al.
International Journal of Obesity (2005), 2021
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
Monogenic leptin deficiency in early childhood obesity.
ElSaeed G et al.
Pediatric Obesity, 2020
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 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
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
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 Effects of Leptin Replacement on Neural Plasticity.
Paz-Filho GJ
Neural Plasticity, 2016
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
CLINICAL VARIABILITY IN TWO SISTERS WITH KEUTEL SYNDROME DUE TO A HOMOZYGOUS MUTATION IN MGP GENE.
Tüysüz B et al.
Genetic Counseling (geneva, Switzerland), 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 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
Association between Leptin gene polymorphisms and plasma leptin level in three consanguineous families with obesity.
Fourati M et al.
Gene, 2013
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
ENU mutagenesis identifies mice with morbid obesity and severe hyperinsulinemia caused by a novel mutation in leptin.
Hong CJ et al.
Plos One, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
The obese phenotype-inducing N82K mutation in human leptin disrupts receptor-binding and biological activity.
Niv-Spector L et al.
Molecular Genetics and Metabolism, 2010
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
Genetics of fat tissue accumulation in pigs: a comparative approach.
Switonski M et al.
Journal of Applied Genetics, 2010
A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient.
Mazen I et al.
Molecular Genetics and Metabolism, 2009
Leptin: a pivotal regulator of human energy homeostasis.
Farooqi IS et al.
The American Journal of Clinical Nutrition, 2009
The role of leptin-melanocortin system and human weight regulation: lessons from experiments of nature.
Lee YS
Annals of the Academy of Medicine, Singapore, 2009
Leptin replacement alters brain response to food cues in genetically leptin-deficient adults.
Baicy K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2007
Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy.
Gibson WT et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
The formation of an intrachain disulfide bond in the leptin protein is necessary for efficient leptin secretion.
Boute N et al.
Biochimie, 2004
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
Genetics of human hypogonadotropic hypogonadism.
Layman LC
American Journal of Medical Genetics, 1999
Truncated human leptin (delta133) associated with extreme obesity undergoes proteasomal degradation after defective intracellular transport.
Rau H et al.
Endocrinology, 1999