Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
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
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
Aminoglycosides, but not PTC124 (Ataluren), rescue nonsense mutations in the leptin receptor and in luciferase reporter genes.
Bolze F et al.
Scientific Reports, 2017
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
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