Associated Papers
Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.
Faccioli N et al.
Obesity (silver Spring, Md.), 2026
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ 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
Preliminary insight into the potential role of Leptin Receptor Polymorphisms in Type 2 Diabetes Risk: case-control study and bioinformatics analysis.
Sabeti Akbar-Abad M et al.
Journal of Diabetes and Metabolic Disorders, 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
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 method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.
Bianchi A et al.
Nar Genomics and Bioinformatics, 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
Effects of Heterozygous Variants in the Leptin-Melanocortin Pathway on Roux-en-Y Gastric Bypass Outcomes: a 15-Year Case-Control Study.
Campos A et al.
Obesity Surgery, 2022
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
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 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
Leptin Receptor Compound Heterozygosity in Humans and Animal Models.
Berger C et al.
International Journal of Molecular Sciences, 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
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
Computational and artificial neural network based study of functional SNPs of human LEPR protein associated with reproductive function.
Gandhi Muruganandhan S et al.
Journal of Cellular Biochemistry, 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
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
Integrated genomic analyses of de novo pathways underlying atypical meningiomas.
Harmancı AS et al.
Nature Communications, 2017
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
Novel variants in the MC4R and LEPR genes among severely obese children from the Iberian population.
Albuquerque D et al.
Annals of Human Genetics, 2014
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
Binge eating as a major phenotype of melanocortin 4 receptor gene mutations.
Branson R et al.
The New England Journal of Medicine, 2003
[Recombinant DNA in the study of diabetes mellitus].
Pankov IuA
Molekuliarnaia Biologiia, 0