Associated Papers
Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.
Bauer R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.
Künzel R et al.
International Journal of Obesity (2005), 2025
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
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
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
Mutational Landscape Screening Through Comprehensive In Silico Analysis for Polycystic Ovarian Syndrome-Related Genes.
Dhar S et al.
Reproductive Sciences (thousand Oaks, Calif.), 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
Leptin Receptor Compound Heterozygosity in Humans and Animal Models.
Berger C et al.
International Journal of Molecular Sciences, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Identification of a novel leptin receptor (LEPR) variant and proof of functional relevance directing treatment decisions in patients with morbid obesity.
Voigtmann F et al.
Metabolism: Clinical and Experimental, 2021
Obesity in Children with Leptin Receptor Gene Polymorphisms.
Abaturov A et al.
Acta Medica (hradec Kralove), 2021
Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics.
Kleinendorst L et al.
European Journal of Endocrinology, 2020
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 2019
Functional and Phenotypic Characteristics of Human Leptin Receptor Mutations.
Nunziata A et al.
Journal of the Endocrine Society, 2019
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
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
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