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
Monoallelic pathogenic variants in LEPR do not cause obesity.
Delplanque J et al.
American Journal of Human Genetics, 2024
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
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
Natural History of Obesity Due to POMC, PCSK1, and LEPR Deficiency and the Impact of Setmelanotide.
Wabitsch M et al.
Journal of the Endocrine Society, 2022
Leptin Receptor Compound Heterozygosity in Humans and Animal Models.
Berger C et al.
International Journal of Molecular Sciences, 2021
A Melanocortin-4 Receptor Agonist Induces Skin and Hair Pigmentation in Patients with Monogenic Mutations in the Leptin-Melanocortin Pathway.
Kanti V et al.
Skin Pharmacology and Physiology, 2021
Obesity in Children with Leptin Receptor Gene Polymorphisms.
Abaturov A et al.
Acta Medica (hradec Kralove), 2021
Diagnostic and therapeutic odyssey of two patients with compound heterozygous leptin receptor deficiency.
Zorn S et al.
Molecular and Cellular Pediatrics, 2020
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
Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.
Kleinendorst L et al.
Plos One, 2020
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 2019
Whole exome sequencing reveals novel LEPR frameshift mutation in severely obese children from Western India.
Bhatt A et al.
Molecular Genetics & Genomic Medicine, 2019
Functional and Phenotypic Characteristics of Human Leptin Receptor Mutations.
Nunziata A et al.
Journal of the Endocrine Society, 2019
Leptin Is Not Essential for Obesity-Associated Hypertension.
von Schnurbein J et al.
Obesity Facts, 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
Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.
Ayers KL et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency.
Clément K et al.
Nature Medicine, 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
Whole-exome sequencing identifies novel LEPR mutations in individuals with severe early onset obesity.
Gill R et al.
Obesity (silver Spring, Md.), 2014
Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity.
Mazen I et al.
Molecular Genetics and Metabolism, 2011
Functional characterization of naturally occurring pathogenic mutations in the human leptin receptor.
Kimber W et al.
Endocrinology, 2008
Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.
Farooqi IS et al.
The New England Journal of Medicine, 2007
[Recombinant DNA in the study of diabetes mellitus].
Pankov IuA
Molekuliarnaia Biologiia, 0