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
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
36864747 (PubMed )
Supplement: supplement_1.zip › supple_PPL › PPL_Variant_Supp2-LEPR.xlsx › Sheet1
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
31700171 (PubMed )
Supplement: EMS84473-supplement-Supplementary_Tables.pdf
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
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
29726959 (PubMed )
Supplement: jc.2018-00258.st1.xlsx › Supp_Table3A
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
Seven novel deleterious LEPR mutations found in early-onset obesity: a ΔExon6-8 shared by subjects from Reunion Island, France, suggests a founder effect.
Huvenne H et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
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